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_21700
A variant was discovered on Chromosome 15, affecting BBS4 (Bardet-Biedl syndrome 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Bardet-Biedl syndrome 4
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
Task1_train_21701
Here is a genetic alteration in BBS4 (Bardet-Biedl syndrome 4) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Bardet-Biedl syndrome
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
Task1_train_21702
This is a variant in HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4), located on Chromosome 15. Is this mutation a likely cause of disease or not?
Pathogenic; Sick sinus syndrome 2, autosomal dominant
ACTCCCACCCCTGCCCAGCCCCGGAGACCCCATCTGCCTTTCTCTGGCTTTTGCATTTGGGACCTGCCTGCTCCCTCCTCCCTCCCCCTCCCTCCCTCTAGTGCTGAGTATTAAAATAGTCTATAAAAGCAAGTGACCAAAAATCTATAGCTCTAAGAATACCTGGTTATTTTCTGCTGTCTTTTGTTTTTCTGGTGTGTGTGGTTTTTTAAATAATTATTACTGTTATTGGTATATCTCCTAATCACAGTTAAACCTGAAGGAAGAAGGAAGGGAGAGAAAAGAAGAAAGAAGAGGGAAGGAAGGGCCCAGCTCATAGATTGGATGGCAGTTTGGAGCGCACTGGCTCAGGCCTGGCCCCAGGTTCCCTCTGGGGTCCAGCAGTCAGAGGGGGCCCCCCAGAAGAGGTGGCTCTTGCCCCAAACAAAGACAGAGGGGGTGGCAAAGAACCTGAGGATGTCTTCCGAGGCAGAGTGACGTGCTGGCCGGGGATGGCACCATAGGGCCTCCCAGGGGGACCGAGGCCCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTGGGGAAGAGCGGGAAGGCAGCCATGGACTCCCCTGAGGAGTGCGGGGAGGCTCTGCGGAGAGTCTGCGCCCCGTCCTGAGGCAGGGCTGGCTGAGACGCGGAGATGAGCTTGAGGTCCTGGGTGAGGCGGCCGGGGGTGAGCGGGGGTGTGCCCCGGCGCTGGGGGACCTGGGGTGGTGGGGGGCTGGATGCAGGTGGCAGGAGCAAGGATCCGTGGGAGCCAGAGGCCCGGGGCGGGGCACTCGGGAAGGTTCTTGGGGGGCCTGGGCTGTGGCCAGGGGGGCTGAGACCTCCTCGGGGAGTAAAGCCTACAGGGGAAGCCCCCCCAGAGGCCCCTGCCACAAGGGACGGCGGCTCAGGCTGCCGTGGGGGTGTCTCTGGCGTGCTCAGTGGGCCAGTGGCCAGACCTAGGGACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCC
ACTCCCACCCCTGCCCAGCCCCGGAGACCCCATCTGCCTTTCTCTGGCTTTTGCATTTGGGACCTGCCTGCTCCCTCCTCCCTCCCCCTCCCTCCCTCTAGTGCTGAGTATTAAAATAGTCTATAAAAGCAAGTGACCAAAAATCTATAGCTCTAAGAATACCTGGTTATTTTCTGCTGTCTTTTGTTTTTCTGGTGTGTGTGGTTTTTTAAATAATTATTACTGTTATTGGTATATCTCCTAATCACAGTTAAACCTGAAGGAAGAAGGAAGGGAGAGAAAAGAAGAAAGAAGAGGGAAGGAAGGGCCCAGCTCATAGATTGGATGGCAGTTTGGAGCGCACTGGCTCAGGCCTGGCCCCAGGTTCCCTCTGGGGTCCAGCAGTCAGAGGGGGCCCCCCAGAAGAGGTGGCTCTTGCCCCAAACAAAGACAGAGGGGGTGGCAAAGAACCTGAGGATGTCTTCCGAGGCAGAGTGACGTGCTGGCCGGGGATGGCACCATAGGGCCTCCCAGGGGGACCGAGGCCCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTGGGGAAGAGCGGGAAGGCAGCCATGGACTCCCCTGAGGAGTGCGGGGAGGCTCTGCGGAGAGTCTGCGCCCCGTCCTGAGGCAGGGCTGGCTGAGACGCGGAGATGAGCTTGAGGTCCTGGGTGAGGCGGCCGGGGGTGAGCGGGGGTGTGCCCCGGCGCTGGGGGACCTGGGGTGGTGGGGGGCTGGATGCAGGTGGCAGGAGCAAGGATCCGTGGGAGCCAGAGGCCCGGGGCGGGGCACTCGGGAAGGTTCTTGGGGGGCCTGGGCTGTGGCCAGGGGGGCTGAGACCTCCTCGGGGAGTAAAGCCTACAGGGGAAGCCCCCCCAGAGGCCCCTGCCACAAGGGACGGCGGCTCAGGCTGCCGTGGGGGTGTCTCTGGCGTGCTCAGTGGGCCAGTGGCCAGACCTAGGGACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACTCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCC
Task1_train_21703
The gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Left ventricular noncompaction cardiomyopathy
GACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCT
GACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATGTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCT
Task1_train_21704
This genomic variant is located on Chromosome 15, within the HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Brugada syndrome 8
CTCCCTAGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCCGTAGCCGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACT
CTCCCTAGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCGGTAGCCGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACT
Task1_train_21705
This variant impacts the gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
Pathogenic; Sick sinus syndrome 2, autosomal dominant
AGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCCGTAGCCGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTT
AGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCCGTAGCGGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTT
Task1_train_21706
With a mutation on Chromosome 15 in gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Sick sinus syndrome 2, autosomal dominant
GATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTTCTAAGGGGCAGAGGCAGGAGGCCAGGAGCTGCCAGCCCAGCATTGCCATGCCTGGGGGAGGCCGCCCAGGTCTTAGTCTCCCTGGGTAAAATCAAGATGAAATACTGAGGCTCCCAGTTGCAATGGAGGCTGTGAGAAGATGGAGGTACCAGCTCCCAACCCAGAGCTGTGAATGGATCCCTGGACTGGCAGCAAGCGATTGGGCCTGTACTGGGTAGAGCTATGTGCCCCCTCAGCCCCAGGCAGCACTCAGGGTCCTACATGCTGGAACTCAGAAGTTCCAAGTCCACATCTCGCCACCCTACCTCTGGAGAGCCCGCCTATGGCCCAGAGAGAGGACCGGGCTGGGCGCACTCACCACCATGTTGTTGATGGACACCCAGCAGTCGTCAGGGAAGTCCTGTAGCATGGGTACCAGGAACTGCAGGCAGCCGTCCCAGTGGCAGAGCAGGAGCATCATGCCGATGAGGTTCACGATGCGCACCACGGCGCTGGCCAGGTCGTAGGTCATGTGGAAGATCTGCCAGCAGAGGAGGAGAAATTGGCTGGGATAGGTGAGTGGCCAGGAGGGCCAGCGGCCACTTTCCCTGCCCTGGAGCTGCTGGTGGGCACTGCTCTGCCTGGACTCTGCAGGGCGCCCACTCAGTGCAAATCCAGGCTGGGGGTGGGATGGGAAGGCGTCAGTCTAGGTCTTGGAAGAGGAAGACTGTAGGCTGCAGGGTCCCAGAGGGACATCTCCTGGCATCTATACAGATGGGGGGTCTTCCTGAAAGGTCTAGCCATCCAGGACATGTGGAAGGACACCTGGAGCCCCATGCAGCCCAGAAGTGGGCAGAGAAGCCACTTTCTCAGCTTTCCTGGGGTGTGAGGATACCAGGGAGAAAAGCCTGCCAGCCTGAGGCTCCTCAGGGAACCAAAAGTCTACAGACATGCCAGGGGCGTGTTTCCCTAAATCTATCACTAAATTCTCAAGACTCACACACGGTAGCCACGGAACTGCAGAGGAAGCGGCACAGGCTCACAGGCCCCAAGTTCAGGCAGACCTTGATCCCAAGCCCAGGTCCTACCCAGTTCCTAGCTGTGTAACCTTGAACCTCTCTGATCATGTTTTCTCATCTGGAAAATGGTGATAAAAATTCTTATCTGAGTGGGCTGTCAAAAGGACTAAATTATACATATAAAGTGCTTAGTAATGGGTAGAGGAGTGTTCAATAAATTACAAACCATTATTAATTGATAAGCTGTTATTAATAATTAATCTTCCTGATTGGTTAATACGTATTTGGGGTAATGTTCTCCTTTACAGCACCCTTGACCCCAGCCCACTGGCACCAGCCCCTCTCTACTCCTGCAGCTCGGAGTGGGGGGCTGCAGTGTAGCTGGACAGGGCCAAGGTGGGCATATCCCAGCCCCTCCTCCTCCCAAAGCTGCCATGCTGGGGTCCCCTTGCTGACAGGGCAGTGGGGGATGGAGAGGTGGAGGCAAGTCTAGAGGAAAGTCTCTGGAAGCTCTGGCCTTGCTTCTGTGGCCTGGGAGACTTTGAAGTGGGTCTAGCCACCCAGCCCCCATTCTCATCCCTCCATACTATTCCCAGGCAAAGACACCCCTCTTGGAGGGGGGCTTGGGTCAAATGCCACAGAGACCTAGTTTAAGCCCATTTCAGATGTGGAAACTAGGCCCAAACAGACAGAGCCTAGATATGTCAGCCCCTGTCTACTGGTCTTCCAGCTACAGCCCTGTAGCTAGTGGCAAGCTGTTCTGATACTAGTGACCGAAGATGAGTACTTTTTGTCCACAGCTCATCACCTGCAGTCACCCCCACCTGTGGCCCCCATCAAGGGCATGACCCTGAAGGTTCCAGCTACAAAGCTGGGAGTCTTTCCAGGATGAAGTGGACAGCGAAAGGTTCATGGGGTCCGGTAGCTTAAGCTTGCCCCATCATTTCCCTGTGGCCCTGGTGACAGAGGGGACAATAGTGCCACACCTGACTGTGGACATGAAATTCCACAGCCATCCTCTATTTAAACTCACAAAAATCCTTTGCTGAAGATATTGTTCATCTGTTTTATACCAAGGCTCAGAGAAGTACAGGAACTTGCCCAAGATCACGGTGGCAGTGGAAAGGCCAGATGTTGTAGCCAGGTCTGCCTGATTCTGAGGCCTGTAGCCACCATATTAGATTGTTAGATTGACCTAGTGAGGAAAGGGTAGCTCTCAGCAGTTCCATTTTGTGGATAAAACAACTCAAACCCAAAGTGGCTGAATGAGGTGCCCAGATTCACACAGCAAGCTGGGTCCTAGGCCAGGTGGGAATTGCCAGCTTCTCGCCTCCCCAGCCCCTGCACACAGTGTGATGGTGTAGACGGTGCTGTGTGCCCTGCAGCCCAGTACCACTGGGGCACAGACCAGCTCTGGGGCTGTCAGCGTTTGAGCTCCTGGCTAAGCTGACACTGCTCAGCATCTGCCATGGCCTGGAAGGAATGGTGGGCCCTGGAGAGCAGGCCGGTCTGTGGCTGGGCTGGGGCCTGGGTCTGGG
GATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTTCTAAGGGGCAGAGGCAGGAGGCCAGGAGCTGCCAGCCCAGCATTGCCATGCCTGGGGGAGGCCGCCCAGGTCTTAGTCTCCCTGGGTAAAATCAAGATGAAATACTGAGGCTCCCAGTTGCAATGGAGGCTGTGAGAAGATGGAGGTACCAGCTCCCAACCCAGAGCTGTGAATGGATCCCTGGACTGGCAGCAAGCGATTGGGCCTGTACTGGGTAGAGCTATGTGCCCCCTCAGCCCCAGGCAGCACTCAGGGTCCTACATGCTGGAACTCAGAAGTTCCAAGTCCACATCTCGCCACCCTACCTCTGGAGAGCCCGCCTATGGCCCAGAGAGAGGACCGGGCTGGGCGCACTCACCACCATGTTGTTGATGGACACCCAGCAGTCGTCAGGGAAGTCCTGTAGCATGGGTACCAGGAACTGCAGGCAGCCGTCCCAGTGGCAGAGCAGGAGCATCATGCCGATGAGGTTCACGATGCGCACCACGCCGCTGGCCAGGTCGTAGGTCATGTGGAAGATCTGCCAGCAGAGGAGGAGAAATTGGCTGGGATAGGTGAGTGGCCAGGAGGGCCAGCGGCCACTTTCCCTGCCCTGGAGCTGCTGGTGGGCACTGCTCTGCCTGGACTCTGCAGGGCGCCCACTCAGTGCAAATCCAGGCTGGGGGTGGGATGGGAAGGCGTCAGTCTAGGTCTTGGAAGAGGAAGACTGTAGGCTGCAGGGTCCCAGAGGGACATCTCCTGGCATCTATACAGATGGGGGGTCTTCCTGAAAGGTCTAGCCATCCAGGACATGTGGAAGGACACCTGGAGCCCCATGCAGCCCAGAAGTGGGCAGAGAAGCCACTTTCTCAGCTTTCCTGGGGTGTGAGGATACCAGGGAGAAAAGCCTGCCAGCCTGAGGCTCCTCAGGGAACCAAAAGTCTACAGACATGCCAGGGGCGTGTTTCCCTAAATCTATCACTAAATTCTCAAGACTCACACACGGTAGCCACGGAACTGCAGAGGAAGCGGCACAGGCTCACAGGCCCCAAGTTCAGGCAGACCTTGATCCCAAGCCCAGGTCCTACCCAGTTCCTAGCTGTGTAACCTTGAACCTCTCTGATCATGTTTTCTCATCTGGAAAATGGTGATAAAAATTCTTATCTGAGTGGGCTGTCAAAAGGACTAAATTATACATATAAAGTGCTTAGTAATGGGTAGAGGAGTGTTCAATAAATTACAAACCATTATTAATTGATAAGCTGTTATTAATAATTAATCTTCCTGATTGGTTAATACGTATTTGGGGTAATGTTCTCCTTTACAGCACCCTTGACCCCAGCCCACTGGCACCAGCCCCTCTCTACTCCTGCAGCTCGGAGTGGGGGGCTGCAGTGTAGCTGGACAGGGCCAAGGTGGGCATATCCCAGCCCCTCCTCCTCCCAAAGCTGCCATGCTGGGGTCCCCTTGCTGACAGGGCAGTGGGGGATGGAGAGGTGGAGGCAAGTCTAGAGGAAAGTCTCTGGAAGCTCTGGCCTTGCTTCTGTGGCCTGGGAGACTTTGAAGTGGGTCTAGCCACCCAGCCCCCATTCTCATCCCTCCATACTATTCCCAGGCAAAGACACCCCTCTTGGAGGGGGGCTTGGGTCAAATGCCACAGAGACCTAGTTTAAGCCCATTTCAGATGTGGAAACTAGGCCCAAACAGACAGAGCCTAGATATGTCAGCCCCTGTCTACTGGTCTTCCAGCTACAGCCCTGTAGCTAGTGGCAAGCTGTTCTGATACTAGTGACCGAAGATGAGTACTTTTTGTCCACAGCTCATCACCTGCAGTCACCCCCACCTGTGGCCCCCATCAAGGGCATGACCCTGAAGGTTCCAGCTACAAAGCTGGGAGTCTTTCCAGGATGAAGTGGACAGCGAAAGGTTCATGGGGTCCGGTAGCTTAAGCTTGCCCCATCATTTCCCTGTGGCCCTGGTGACAGAGGGGACAATAGTGCCACACCTGACTGTGGACATGAAATTCCACAGCCATCCTCTATTTAAACTCACAAAAATCCTTTGCTGAAGATATTGTTCATCTGTTTTATACCAAGGCTCAGAGAAGTACAGGAACTTGCCCAAGATCACGGTGGCAGTGGAAAGGCCAGATGTTGTAGCCAGGTCTGCCTGATTCTGAGGCCTGTAGCCACCATATTAGATTGTTAGATTGACCTAGTGAGGAAAGGGTAGCTCTCAGCAGTTCCATTTTGTGGATAAAACAACTCAAACCCAAAGTGGCTGAATGAGGTGCCCAGATTCACACAGCAAGCTGGGTCCTAGGCCAGGTGGGAATTGCCAGCTTCTCGCCTCCCCAGCCCCTGCACACAGTGTGATGGTGTAGACGGTGCTGTGTGCCCTGCAGCCCAGTACCACTGGGGCACAGACCAGCTCTGGGGCTGTCAGCGTTTGAGCTCCTGGCTAAGCTGACACTGCTCAGCATCTGCCATGGCCTGGAAGGAATGGTGGGCCCTGGAGAGCAGGCCGGTCTGTGGCTGGGCTGGGGCCTGGGTCTGGG
Task1_train_21707
A genetic alteration is present in LOC126862173, HCN4, LOC105370890 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961| hyperpolarization activated cyclic nucleotide gated potassium channel 4| uncharacterized LOC105370890) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; HCN4-related disorder
GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGTAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGCAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
Task1_train_21708
Mutation context: Chromosome 15, Gene LOC126862173, HCN4, LOC105370890 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961| hyperpolarization activated cyclic nucleotide gated potassium channel 4| uncharacterized LOC105370890). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Brugada syndrome 8
GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGTAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGCAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
Task1_train_21709
The gene REC114 (REC114 meiotic recombination protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Oocyte maturation defect 10
CACTTATAAGTGGGAGCTAAATGATGAGAACACATGAATACATAGAGGGGAACAACACACACTGGGGCCTTTTGGAGGTAGAGGAAGGAGAGGATCAGGAAAAATAACGAATGGGTACTAGGCTTAATACCTGGGTGACGCAATAATCTGTACAACAAACTCCCATGACACAAGTTTACCTATGTAAAAAACCTGCACTTGGACCCTTGAACTTAGAATAAAAGTTAAAAAAAAAAATTATGAGATCTTGTTACTTACAACAACATGGATGGAACTGGGGGTCATTACGTTAAGTGAAATAAACCAGGCACAGAAAGACAAACATCACATATTCTCACTTATTTGTGGGATCTAAAAATCAAAACAATTGAACTCGTGGAGATAAAGAGTAGAAGGATGGTTGCCAGAGGCTGGGAAGGGTAGTGGGGATGGTTAATGGGTCCAAAAAAAGAAAGAATGAACAGGACCTAGTATTTGATAGCACAACAGGATGACGATAATGGAAATTTTTAAATACACGAGTATGGTTGGATTGTTTGTAACACAAAGGATAAGTGCTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTACTCATTGAATGCCTGTATCAAAACATCTCATGTACCTCATAAATATATACACACCTATGTACCTAAAATTTTAGAAATTAAATATACATGAGTGTTTGTATATATTCTTTTATACACCCACAGATATATATGACTCTTCATATTTTTTCCAATGTTGGATAAGATAATGATAATGGATGACTTTTATATTCAGGGGGAAAAATTAAATGAATTAAAATATAAAGAGTACCAAATACTGGCAGTGAAAAGGGGCAGTGGTGCCTATTCTTCTAAACATGATAGCTTACCATTATCTCAGCCATGCCAAGAGTTTTCTGTAATCTAAATATATGGCTTTACTTGATGGGTTTATTTAAATAGTGTAAATTATGAACAGGAAAATCAAGGACTATTTATTTGCTTATAGGAACTTACAGGATTTTGTTAACTGTAGTTAGGAGTGTTTTCAAGGAAGCAACATGGTATATATATTTCATGAGGGAAAAGGACTGTCACTGTGCTAAGCTTAGCATCTACATTTCTTTACAGAAGAAACTGATGAAAGGTATACAATATATACAGTCCTGTTTCGGGAGGCTTTTATGTAGGTTGACTCCTCTAAACTAGGCAGAGTAGTAGACTAGAAAAAAGGGAAACTATTCTAAAATGGTTTTATGTTATTGTTATAATCTAGATGTTTTTACACTTAGATGTTTTTATACTTGTAATCAAATAAGTTTGATGTAGTTGACAGATTTTTAAAATTTTTTAATTGCATCTGTCCCACATTTGCTAATTTGCCAAGGGATGTGACTCATACAGCAAATTAAAGACAGCCTTTCACTATGCAACTTGTATGGTAGTCTGGCCTCTTTAAGGATAAAGGGTACTACAGATCATTAGCATGAGATCTATTAGCTTTGAGCATCTGCCTGTCACTCTTCCCCAGTATTGTTTAAGCTCACTGCCTTGTTTAACATAGTTATCTACCTGGTTTGGTATTACTCAGTTTAGAAAAGTTTTGAGCAGGACTATGCTTGCTGTATTATTATCCTCACAGATTTTTCACTTAGGGAATTAGAAGCTATGAAATCTTTATTCCAAAGCACGATAAAACACTGATCTGCAATCAGTATAGTGATCTTCCTGTCTTTATGATATGAGCTTTTCCACTGTTGCTGATGTCACTTCCCAGAGGGAAGTGAATTTTAGTATGATGAACAACTCCCAAAAGGGGGAAGAAAATGAATTATTGGCTTTTCTATGCCTGCATCAATAAGTGAAGATGACTGTTCCCTTATCTATACCTCTTCCTCCGCCAAGCAAAGGAAACACTCAGTGGAAGACCCCAAAGTAAATAGTTATATGATGAGGGTCTCTCATGATAACTTTTGATTTGTCAAACAGGACAAGAGTCGCCTGTTTCGAGTACAGTTCAGTGGAGAGTCAAAGGAGCAGGCGCTGGAACACTGCTGCAGTTGTGTTCAGAAGCTGGCACAATACATAACCGTGCAGGTGCCTGATGGAAACATCCAGGAGCTTCAGCTGATTCCTGGCCCACCCAGGGCAACTGAAAGTCAAGGGAAGGATTCTGCAAAGAGTGTCCCACGGCAGCCTGGAGTAAGTAGGCTGATGTGTTGGTTATACAGGAAACATGACAATGCAGTGCACAATGAGTGGCCAAAATGACAGTGGAGTTTGTCAAGTCTGTTAGGTTTGTAGTTTAAAAAACATCTATGTTCGGTGACTTTTTAAAATTGAGGTCGATACTCATTGTAGCTCCCTATTCAGAAATTAGGCAGGGAGGAGTTCCAGCTGCATTCTGGGTGTCACTACAGAACAGTGGTTCTCAAAGTGTGGTCCACGAACCCCTCCCTAGGACTCTTCCAGGGGGCCCACAAGGTCAAAATTATTTTTCTTAATATTTAAAGAAAGAGTATCACTTGCCTTTTTCACTGTGTCAACATTTGAATTGATGACACAAAGGCATCGTAAGGCTGCTGTCATCTCATACAGATCAGGCAGTGGCACCAAACTGTACTAATAGTCATCATGTTCCAATCATTCGCAGTAAGAACAAACTAACGAAATAACCCTGCAGTCTGCAGTACCATGGCTGTCTCAAGGGAACGCACCTGTGTGACATTTGTATTTTGAACTAGCCTCTTTTTTCATAAAATACCATCATTATGTGAGAGAACAACAGACTATGGTAATTCAGATTTGGGTATTTGGCAGACATTTTCTCAAAAATCAGTGAAATGAACTATCACTTCAGGAAAACAACTGATAGTATTTATTGAAAATGATAAAATTTAAGCTTCCAAGTGAAAATTAGAATCTTGAAAAACTTGTATCTGCCACATGAGCTTCACAACTTCCCAACCCGGAAGACTTTTCTAAAGGTGCTATTAATAAATGTGATTTACTTGTTTATAAGTAATTACCTGATGAAATGTGTCAATATTTGAAAGACAGTATATTCAGTGAATCAGTATTGTCCAGATGACCGATGCCTGAATGCCACAAAATTATACGTGGATAAAGAGCTATTCAAAAGTGTAAGATAGGCTAAAAGATTGTAATATAACAGTATAACAAGTTTATTGCCATGGTTTCAGATTCTATATTGCAACTTAACTTTAAGCAACTCACTCGTTGAGTTTTGGTGTTGTATCAAGGAATATCCACAGTTATCTGAACAGGCTATTCTAAAATACCCCTCCCTTCTCCATCTATAATTTGTGTGAGGCCAGATTTTCTTCATGTCTTCAACCAAAGCAGCACATTACAGCAAACTGAATGCAGCAGCAAATATAAGAATCTAGTCACCTTCTACTAAACTAGGTAGTAAAGAGATTTGCAAAAATCATTATTTTGTTTTAGAAAAGTTATTTTCCATAAAATGTTTTCAACATTAACGTAAAGTGGGTTTATTATTTTTAATGAACATTTTTAAATTCCGTGTTAGTTTCTAATATGATAAATACCAGATAAATGTAACTCAGATGAAAGTTCTTTGAAGGCCTCATAAGGGGTCTTGTGATAAAAAAGTTTGAGACTCATGACTATAGAATTTCTCCCAGAAATATGTGTTCTGCATTTCTTTGGCAGTTTCAAATATTATTGGAATAAGCACCTACCTCTGTTCTTGAGATGAGATACTACTTTCAAGCTGGGTTTTGCATTTGCTTTGAGAAGTGATTTTTCCAAACCTGGTTTTCCATTACTTCATCATGTTAGTTTTCCTTAACCAAAACACCTCATTTTTGCTGTTTTGTCACTATGTTTCTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGAAGTGTGCAATGGCACGATCTCGGCTCACTGCAACCTGGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCATTATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTC
CACTTATAAGTGGGAGCTAAATGATGAGAACACATGAATACATAGAGGGGAACAACACACACTGGGGCCTTTTGGAGGTAGAGGAAGGAGAGGATCAGGAAAAATAACGAATGGGTACTAGGCTTAATACCTGGGTGACGCAATAATCTGTACAACAAACTCCCATGACACAAGTTTACCTATGTAAAAAACCTGCACTTGGACCCTTGAACTTAGAATAAAAGTTAAAAAAAAAAATTATGAGATCTTGTTACTTACAACAACATGGATGGAACTGGGGGTCATTACGTTAAGTGAAATAAACCAGGCACAGAAAGACAAACATCACATATTCTCACTTATTTGTGGGATCTAAAAATCAAAACAATTGAACTCGTGGAGATAAAGAGTAGAAGGATGGTTGCCAGAGGCTGGGAAGGGTAGTGGGGATGGTTAATGGGTCCAAAAAAAGAAAGAATGAACAGGACCTAGTATTTGATAGCACAACAGGATGACGATAATGGAAATTTTTAAATACACGAGTATGGTTGGATTGTTTGTAACACAAAGGATAAGTGCTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTACTCATTGAATGCCTGTATCAAAACATCTCATGTACCTCATAAATATATACACACCTATGTACCTAAAATTTTAGAAATTAAATATACATGAGTGTTTGTATATATTCTTTTATACACCCACAGATATATATGACTCTTCATATTTTTTCCAATGTTGGATAAGATAATGATAATGGATGACTTTTATATTCAGGGGGAAAAATTAAATGAATTAAAATATAAAGAGTACCAAATACTGGCAGTGAAAAGGGGCAGTGGTGCCTATTCTTCTAAACATGATAGCTTACCATTATCTCAGCCATGCCAAGAGTTTTCTGTAATCTAAATATATGGCTTTACTTGATGGGTTTATTTAAATAGTGTAAATTATGAACAGGAAAATCAAGGACTATTTATTTGCTTATAGGAACTTACAGGATTTTGTTAACTGTAGTTAGGAGTGTTTTCAAGGAAGCAACATGGTATATATATTTCATGAGGGAAAAGGACTGTCACTGTGCTAAGCTTAGCATCTACATTTCTTTACAGAAGAAACTGATGAAAGGTATACAATATATACAGTCCTGTTTCGGGAGGCTTTTATGTAGGTTGACTCCTCTAAACTAGGCAGAGTAGTAGACTAGAAAAAAGGGAAACTATTCTAAAATGGTTTTATGTTATTGTTATAATCTAGATGTTTTTACACTTAGATGTTTTTATACTTGTAATCAAATAAGTTTGATGTAGTTGACAGATTTTTAAAATTTTTTAATTGCATCTGTCCCACATTTGCTAATTTGCCAAGGGATGTGACTCATACAGCAAATTAAAGACAGCCTTTCACTATGCAACTTGTATGGTAGTCTGGCCTCTTTAAGGATAAAGGGTACTACAGATCATTAGCATGAGATCTATTAGCTTTGAGCATCTGCCTGTCACTCTTCCCCAGTATTGTTTAAGCTCACTGCCTTGTTTAACATAGTTATCTACCTGGTTTGGTATTACTCAGTTTAGAAAAGTTTTGAGCAGGACTATGCTTGCTGTATTATTATCCTCACAGATTTTTCACTTAGGGAATTAGAAGCTATGAAATCTTTATTCCAAAGCACGATAAAACACTGATCTGCAATCAGTATAGTGATCTTCCTGTCTTTATGATATGAGCTTTTCCACTGTTGCTGATGTCACTTCCCAGAGGGAAGTGAATTTTAGTATGATGAACAACTCCCAAAAGGGGGAAGAAAATGAATTATTGGCTTTTCTATGCCTGCATCAATAAGTGAAGATGACTGTTCCCTTATCTATACCTCTTCCTCCGCCAAGCAAAGGAAACACTCAGTGGAAGACCCCAAAGTAAATAGTTATATGATGAGGGTCTCTCATGATAACTTTTGATTTGTCAAACAGGACAAGAGTCGCCTGTTTCGAGTACAGTTCAGTGGAGAGTCAAAGGAGCAGGCGCTGGAACACGGCTGCAGTTGTGTTCAGAAGCTGGCACAATACATAACCGTGCAGGTGCCTGATGGAAACATCCAGGAGCTTCAGCTGATTCCTGGCCCACCCAGGGCAACTGAAAGTCAAGGGAAGGATTCTGCAAAGAGTGTCCCACGGCAGCCTGGAGTAAGTAGGCTGATGTGTTGGTTATACAGGAAACATGACAATGCAGTGCACAATGAGTGGCCAAAATGACAGTGGAGTTTGTCAAGTCTGTTAGGTTTGTAGTTTAAAAAACATCTATGTTCGGTGACTTTTTAAAATTGAGGTCGATACTCATTGTAGCTCCCTATTCAGAAATTAGGCAGGGAGGAGTTCCAGCTGCATTCTGGGTGTCACTACAGAACAGTGGTTCTCAAAGTGTGGTCCACGAACCCCTCCCTAGGACTCTTCCAGGGGGCCCACAAGGTCAAAATTATTTTTCTTAATATTTAAAGAAAGAGTATCACTTGCCTTTTTCACTGTGTCAACATTTGAATTGATGACACAAAGGCATCGTAAGGCTGCTGTCATCTCATACAGATCAGGCAGTGGCACCAAACTGTACTAATAGTCATCATGTTCCAATCATTCGCAGTAAGAACAAACTAACGAAATAACCCTGCAGTCTGCAGTACCATGGCTGTCTCAAGGGAACGCACCTGTGTGACATTTGTATTTTGAACTAGCCTCTTTTTTCATAAAATACCATCATTATGTGAGAGAACAACAGACTATGGTAATTCAGATTTGGGTATTTGGCAGACATTTTCTCAAAAATCAGTGAAATGAACTATCACTTCAGGAAAACAACTGATAGTATTTATTGAAAATGATAAAATTTAAGCTTCCAAGTGAAAATTAGAATCTTGAAAAACTTGTATCTGCCACATGAGCTTCACAACTTCCCAACCCGGAAGACTTTTCTAAAGGTGCTATTAATAAATGTGATTTACTTGTTTATAAGTAATTACCTGATGAAATGTGTCAATATTTGAAAGACAGTATATTCAGTGAATCAGTATTGTCCAGATGACCGATGCCTGAATGCCACAAAATTATACGTGGATAAAGAGCTATTCAAAAGTGTAAGATAGGCTAAAAGATTGTAATATAACAGTATAACAAGTTTATTGCCATGGTTTCAGATTCTATATTGCAACTTAACTTTAAGCAACTCACTCGTTGAGTTTTGGTGTTGTATCAAGGAATATCCACAGTTATCTGAACAGGCTATTCTAAAATACCCCTCCCTTCTCCATCTATAATTTGTGTGAGGCCAGATTTTCTTCATGTCTTCAACCAAAGCAGCACATTACAGCAAACTGAATGCAGCAGCAAATATAAGAATCTAGTCACCTTCTACTAAACTAGGTAGTAAAGAGATTTGCAAAAATCATTATTTTGTTTTAGAAAAGTTATTTTCCATAAAATGTTTTCAACATTAACGTAAAGTGGGTTTATTATTTTTAATGAACATTTTTAAATTCCGTGTTAGTTTCTAATATGATAAATACCAGATAAATGTAACTCAGATGAAAGTTCTTTGAAGGCCTCATAAGGGGTCTTGTGATAAAAAAGTTTGAGACTCATGACTATAGAATTTCTCCCAGAAATATGTGTTCTGCATTTCTTTGGCAGTTTCAAATATTATTGGAATAAGCACCTACCTCTGTTCTTGAGATGAGATACTACTTTCAAGCTGGGTTTTGCATTTGCTTTGAGAAGTGATTTTTCCAAACCTGGTTTTCCATTACTTCATCATGTTAGTTTTCCTTAACCAAAACACCTCATTTTTGCTGTTTTGTCACTATGTTTCTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGAAGTGTGCAATGGCACGATCTCGGCTCACTGCAACCTGGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCATTATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTC
Task1_train_21710
Given a variant located on Chromosome 15 and affecting STRA6 (signaling receptor and transporter of retinol STRA6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Matthew-Wood syndrome
CATGCGCTAGGCCACCTTGGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGA
CATGCGCTAGGCCACCTTGGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCATGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGA
Task1_train_21711
A variant was discovered in gene STRA6 (signaling receptor and transporter of retinol STRA6), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Anophthalmia-microphthalmia syndrome
GGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCA
GGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGGGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCA
Task1_train_21712
This mutation occurs in STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Anophthalmia-microphthalmia syndrome
GGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACC
GGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGCATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACC
Task1_train_21713
The gene STRA6 (signaling receptor and transporter of retinol STRA6), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Matthew-Wood syndrome
TCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGC
TCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTGGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGC
Task1_train_21714
Mutation context: Chromosome 15, Gene STRA6 (signaling receptor and transporter of retinol STRA6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Anophthalmia-microphthalmia syndrome
GTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCATCCTCCCGAATAGCTGGAACTGCAGGTGCACACCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTGGTCTTCATCTCCTGACTTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGAGCCCAGCCAGGAATGTACCATTTTGAATTTGACACCTCCAGACCTGGGTCCACCCCCATGTGAATACTTGGTGGCACCCAGGGTTCATCTCCATGTGGAGGGTACACACTCAATTTCCCGAGGGCTCCTGTACCCCCATCCTGAATAAGCTTCTTAAGGGCAGGGAAGGCAGGGGGGTCCCTCCTTCTTGCTGCTGCCCCAGAGCATTCCCAGACAAACTCTGAGGGCAGTACTTGCTGAGCACTCTTCTCCCCAACTGAGGCCAGTGTCTGAGGGGAGGCCCAGGCCAAGGCTGGGTGTGGCGGGCAAGGGAGGCTCACCAAGGCAGATAAAGGCTGTCTGGTAGGCACTGAAGCTCATCCAACAGAATATGGCTTGGCGGGAGGGATGGGGACTCCGATGCAAGGGACTCAAGTCCAGGGCAGCTCCTCGGTGCAGAGCTCGAAGGTTGGTCCTGGGGTGGGAGCCAGGGAGGCAGAGACCTCAGGGAGCAACACACTCTTCCTAAATCCTCCTCTGGGCCAGCAACTGGCCAAACTCCCAATAGAATTTCAACTCACAGCCATCAGCAGGGAAGCCCAGAACTGTGGGAGCCAGGAGGAGGCCACTAACCCAAGATATCTGGAAGAGGTGATATCTGGGTAGTCTTAAACAGTGAACGAGGAATACAAAACGAGGCAGAAGGCTCAACCTGAGCCAAGTCAGAAAAGTGAGAAACAACAGTGAGAATGGAAGTGACACACAGCACAGCCAACAGGTAAAGAGGCAAGGCAAGCACAGGCTGAGGAGCCTTGAATGCCAGAAGAAGGAGGGGTGACCTGTGGAAAAAGATCCCTGGGAAGAGCTCTGAGACCTGGCAAGTGCGCAGGAGACATGGGCCAGTTCTCTGACATGGGTAAGTGCTCGGGCTGCCCCTTCCACCTGCCCTGGGCCTTCAGTGCTCCTCACCACTCACCGCTG
GTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCCGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCATCCTCCCGAATAGCTGGAACTGCAGGTGCACACCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTGGTCTTCATCTCCTGACTTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGAGCCCAGCCAGGAATGTACCATTTTGAATTTGACACCTCCAGACCTGGGTCCACCCCCATGTGAATACTTGGTGGCACCCAGGGTTCATCTCCATGTGGAGGGTACACACTCAATTTCCCGAGGGCTCCTGTACCCCCATCCTGAATAAGCTTCTTAAGGGCAGGGAAGGCAGGGGGGTCCCTCCTTCTTGCTGCTGCCCCAGAGCATTCCCAGACAAACTCTGAGGGCAGTACTTGCTGAGCACTCTTCTCCCCAACTGAGGCCAGTGTCTGAGGGGAGGCCCAGGCCAAGGCTGGGTGTGGCGGGCAAGGGAGGCTCACCAAGGCAGATAAAGGCTGTCTGGTAGGCACTGAAGCTCATCCAACAGAATATGGCTTGGCGGGAGGGATGGGGACTCCGATGCAAGGGACTCAAGTCCAGGGCAGCTCCTCGGTGCAGAGCTCGAAGGTTGGTCCTGGGGTGGGAGCCAGGGAGGCAGAGACCTCAGGGAGCAACACACTCTTCCTAAATCCTCCTCTGGGCCAGCAACTGGCCAAACTCCCAATAGAATTTCAACTCACAGCCATCAGCAGGGAAGCCCAGAACTGTGGGAGCCAGGAGGAGGCCACTAACCCAAGATATCTGGAAGAGGTGATATCTGGGTAGTCTTAAACAGTGAACGAGGAATACAAAACGAGGCAGAAGGCTCAACCTGAGCCAAGTCAGAAAAGTGAGAAACAACAGTGAGAATGGAAGTGACACACAGCACAGCCAACAGGTAAAGAGGCAAGGCAAGCACAGGCTGAGGAGCCTTGAATGCCAGAAGAAGGAGGGGTGACCTGTGGAAAAAGATCCCTGGGAAGAGCTCTGAGACCTGGCAAGTGCGCAGGAGACATGGGCCAGTTCTCTGACATGGGTAAGTGCTCGGGCTGCCCCTTCCACCTGCCCTGGGCCTTCAGTGCTCCTCACCACTCACCGCTG
Task1_train_21715
This mutation is located in gene STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; STRA6-related disorder
GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGGGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
Task1_train_21716
Here is a genetic alteration in STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Matthew-Wood syndrome
GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGGGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
Task1_train_21717
Chromosome 15 houses a mutation in gene STRA6 (signaling receptor and transporter of retinol STRA6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
GATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTCCCTGAGGGCCAGCCCCAGAGGCTGGTCATTCTTCCCCTCTGCCCCTGCCATGCTGCCCAGTGCCAGCTTCCCAAGCACGGCTGCTAACCAGCCCAATCCATTGGCCCACAAAGGGTGTGTCAGAGACCCCACCTGCTTCCCAGCTTCTTCCTGCAAAGGAGGTTCCTCAGATATTCCTCAGAGTAGCTGCTCTGCAGCCCCTGTGGAGACAGACAATTGAACAAGCAGATGAGATCTGCCTCGACCCATTCGTGGGTCCCTGGCTCAGGGAACTAGAGTGTTCACCAAGCAGGTGCTCCATAAAAACCTGTTGGCCATGGCGGTGGTGGTGAGTGTGGATGGGGCTGACCTGTGGGGATGAGGTCCGTGCCCTCCAAAGCTTCCCTTTTCTCTCTCACAAATACAAGGCCAGTCTCCTATCAAAGAACCATCAATGCCAGGAAGTTCTTCCTAAGATCTGTCTCCAACTCTCGCCTGCTTTACTCAGTCACATCTCTTCACCGTTTCTTCCCACCCCTAGCCCTCTGGCCTCTGCTAGCTGAAACTGGGGCAAAGGGAAGCTTGTGTCCCACGGGCACATCCTAGACCAGGACACAGAAGAGGGTCATTCCAGGTCAGACACCCTCAGGCTTCTCCTGCTGCCACTGCGCAAGGGAGATCACAAGGGTGACCAGATTTGTCTAAGCCACATTCCAGGCCTTAAGCTGCCTGTGAAGTAGCAGAGGCCCATGGGAAGATGGGGTGAGCCCCTGCCTGGAATCACTGGGAGAACACAGGCTGTTGTCACTTGTTGCCATGACAACCCTGGGATCCCGGGCAGGAGTGGGTCAGCTCAAAGCTTGATGGGGGTCCTTTGAGACTTAAACCTCTTTGACCAAAGTCCAAAGAGGATTGTACACCTCTCAAGCCTGGGAGGAAAGGCTGGCAATGGAGAGAGAGATGGGGTGGTGGAAACCCTGGAAGAGAAGGTAAAGGGGCATGCCTCAGGCACTGTGTCGTCCCGGGGGGCCGCTCCCTTTTCAGAGCCAGCTGTAAACAGGAGGGGACACAGGCTTCCTCGAGGGGTGTTGGCCTCAATAGGCAGGAGCTACAAGCGCTCAGAACTCCCTGCCTGCCACGTGGGAGCCGAGTCTGGAGTCCGTGGGCCTTCTCGGACCAGAGTAGCCCAAAAGGGACCCGGGGTTCTCCATCCTGCCTAGGGATCTCACTCACTCTCTGGATTCAGTCTGACCTTGCCGAGTTAACACCCGGTCCCAGCCCCTCTGCTGAGCTCCAGACTTTGAGCAGTACACCCTCAGGACCAAGCATCATCCCAGGAGCACCTGCTCCTCCCTCCACCTTCCCTGGGCCAGCAGCTGGCACCACCACCTACCTGCTGGCTGGCCAGGTGCCTCCCATCAAGCCTTTCCTTCCCCTGCCCTGTCTGAAGAGAAGCCACGCCCTTTGGCCTCTATGTCTTAAGACTTTCTCCTGAGTCTGTTCTTCTTTCCCCTTTGAGGGTCTCTGCAGAGCTTTCTTCCTCCTCCTCTCTCACCAGAAAGAAGTAGTGGACCCCGCCCCCTGCACCACAGTCCCAACACCCGGTGCAGGTTTCACATTGCACTGCAGGTGTTTTGTGCCGCATCTGTCTCCCCCACCACACTGG
GATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCAGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTCCCTGAGGGCCAGCCCCAGAGGCTGGTCATTCTTCCCCTCTGCCCCTGCCATGCTGCCCAGTGCCAGCTTCCCAAGCACGGCTGCTAACCAGCCCAATCCATTGGCCCACAAAGGGTGTGTCAGAGACCCCACCTGCTTCCCAGCTTCTTCCTGCAAAGGAGGTTCCTCAGATATTCCTCAGAGTAGCTGCTCTGCAGCCCCTGTGGAGACAGACAATTGAACAAGCAGATGAGATCTGCCTCGACCCATTCGTGGGTCCCTGGCTCAGGGAACTAGAGTGTTCACCAAGCAGGTGCTCCATAAAAACCTGTTGGCCATGGCGGTGGTGGTGAGTGTGGATGGGGCTGACCTGTGGGGATGAGGTCCGTGCCCTCCAAAGCTTCCCTTTTCTCTCTCACAAATACAAGGCCAGTCTCCTATCAAAGAACCATCAATGCCAGGAAGTTCTTCCTAAGATCTGTCTCCAACTCTCGCCTGCTTTACTCAGTCACATCTCTTCACCGTTTCTTCCCACCCCTAGCCCTCTGGCCTCTGCTAGCTGAAACTGGGGCAAAGGGAAGCTTGTGTCCCACGGGCACATCCTAGACCAGGACACAGAAGAGGGTCATTCCAGGTCAGACACCCTCAGGCTTCTCCTGCTGCCACTGCGCAAGGGAGATCACAAGGGTGACCAGATTTGTCTAAGCCACATTCCAGGCCTTAAGCTGCCTGTGAAGTAGCAGAGGCCCATGGGAAGATGGGGTGAGCCCCTGCCTGGAATCACTGGGAGAACACAGGCTGTTGTCACTTGTTGCCATGACAACCCTGGGATCCCGGGCAGGAGTGGGTCAGCTCAAAGCTTGATGGGGGTCCTTTGAGACTTAAACCTCTTTGACCAAAGTCCAAAGAGGATTGTACACCTCTCAAGCCTGGGAGGAAAGGCTGGCAATGGAGAGAGAGATGGGGTGGTGGAAACCCTGGAAGAGAAGGTAAAGGGGCATGCCTCAGGCACTGTGTCGTCCCGGGGGGCCGCTCCCTTTTCAGAGCCAGCTGTAAACAGGAGGGGACACAGGCTTCCTCGAGGGGTGTTGGCCTCAATAGGCAGGAGCTACAAGCGCTCAGAACTCCCTGCCTGCCACGTGGGAGCCGAGTCTGGAGTCCGTGGGCCTTCTCGGACCAGAGTAGCCCAAAAGGGACCCGGGGTTCTCCATCCTGCCTAGGGATCTCACTCACTCTCTGGATTCAGTCTGACCTTGCCGAGTTAACACCCGGTCCCAGCCCCTCTGCTGAGCTCCAGACTTTGAGCAGTACACCCTCAGGACCAAGCATCATCCCAGGAGCACCTGCTCCTCCCTCCACCTTCCCTGGGCCAGCAGCTGGCACCACCACCTACCTGCTGGCTGGCCAGGTGCCTCCCATCAAGCCTTTCCTTCCCCTGCCCTGTCTGAAGAGAAGCCACGCCCTTTGGCCTCTATGTCTTAAGACTTTCTCCTGAGTCTGTTCTTCTTTCCCCTTTGAGGGTCTCTGCAGAGCTTTCTTCCTCCTCCTCTCTCACCAGAAAGAAGTAGTGGACCCCGCCCCCTGCACCACAGTCCCAACACCCGGTGCAGGTTTCACATTGCACTGCAGGTGTTTTGTGCCGCATCTGTCTCCCCCACCACACTGG
Task1_train_21718
Given a variant located on Chromosome 15 and affecting STRA6 (signaling receptor and transporter of retinol STRA6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Matthew-Wood syndrome
CCTTCTCGAGCCCTGCAGAGATGCTCACCCCTCCCCCAGGCTCCTGGATCCCCACGGGCCTGAGAGGAGCCAAGAGGAGGAGATCACTTGATTCCCTCCTGCCCCCCACTGGAAAGGACACCTCTTTCTGTTTCTGTGTTCCCGGAGCATTAGGAACAGTTCTGAAAATCACACGAAAGCCTGCCTTTGCCTACATATAGTTTTCAACCTGAGCATCAGGAAAGTCTATGCCCTACTCCTCAGGGCTGAGGCCTTCCTGGGGGTGGGCTTTTTGTATACTCATTCATTTATTTGTTGGTTCAATATACTTTTATTGAGAGCTTAGTATGTGCCAGGTTCTAGGTGGTGAAAAAAAGCCACCAAGTTCCCCCTCTCAAAGCAACCTCTTAGTCTTCACCTCCACCCTGAGGGACTGGTGTTATCAGCTCCATGGACGGATGGAGAAACGGTCTCAGAAAGGTGGCACTGTTTCCCCAAGGCACTTGGTACCACCTGGCATCATTTTGTTTGCGTGTCATGTCTGCCCTTCTGAAGTGACGGCTCTTGGGAGGCTAGGGACTGTTTGTCTTGTTCATAGCTGTAGTCCAGTGCCTGGAAATGTCCCTGGTACAAAGTATGTGCTTCAAATATGTTGTTGAATGAATGGGTGAGTGAATGAATGAAGTGGTGAAGCTGGATTCACACTCAGGTTGTCTGGCTCTAAAGCCTGTACCATCACTCTTTGAGTTCTAGACTGGACAGCTTCACAGCCCCAGCCAGCAGCCAGTGAGCAAGGTCCTGAGGTTCCGGAATTCTCCTCTCAGCCCTCTTAGACCATCCCTGACTTCGCACTTGCCGGCCTCCATCAAGCTTCACTCCCATTCCCTCTCCAGCCTGACCAAAGGGAAGCTGGGGGATCACTAACACAGGCATTGGGGGTGGGGGCCATTTCAGGCTTTCTCTTCCCCCTACTCTGCCCACTTCCCCTTCTCCGCCACCTCCTAGACTTAAAGTTCCTGAGGGCTGGGCCCAGCCACCTTGTTCCCTGCCTCTCCTGCAGAGCAGCCAAGCTTGGAAGGGGCACATGTTTGAAGGCATGGAATCCCATGCACAATGGAAGGCTGCAGGGCGGCCCATCATAGAATCAGAGCTCAAAGGAGGCACTGTGGTTTGAGTAGGTTGCTCTGTGCGCCCCTCTGCCCTAGGCCATTGTGATCAGCGGTTACCTTGGGCACCTGGGGACACTCTGCCCTCTGCCAGACCTGGACCCCAAGGTGGGCCCAGGACAGCGTGCTGCCGAGCAGGTGTGCAGCTGTGTGGCCAGCCGTGGCACAGGCAGCCAGAGGGTAGTAGAGGGCAGCATAATAGAACAGTCCCAGTATCTTCCAGGCCCCTGGAAGGTGAAACAAGCAGAGAGACCCATGCTGGAGGGGCAGACATGGGGCCTGCAGTGAGCCCACCCAGGCCTCTCTTCGGTCTCCAGCTTCCAAGCCCTTCAGCACGTTCAGTGGGCAAGAACACTAGGTTCAAATCCAGGCTCTGACTAGTCTCAACTCTGTGATCTTGGGCAAGTTACCTCTTGGAGCCTCAGTTTTCCCATCTGTAAAATGAAAATAATCACAGTATATTAGCAAGGGCAAAATGAGAAGGTGGATATATAATGCTTAGCATGGTGCCTGAGCAAATACTCAATTTAAGATACTACTTCCCTGGCTCTCAGTTCCTCCATTGCAAAATGGGGCTAATATGCATACTTTGTAGCATCGTTGTAAAGACTGGATGGTCTAAAAAGGTCACGTCTCAGGATAGCAGCCCATCTCATTGACAGCTGTTCCTGTTACTCTCATCTCCTTGAGCCAAGCTTAAAACTCCGAGACCCCACCCTACCCCATCCCATCACACCAACCCCAGGGCCTGGGGGTCAGTGGGTACCTTGGCTGGGTGCTGAGGCGAGAGTCAGGAAGGGCAATGCGTCCTCGTCGGGGAGCAGCAAACACAGGGAGCTCAGGAGGACCATGAAAACAGCAGCAGGCACTGCCCGGGGCCTGTCCCCAGCCAAGAAATCCACAGGGCTAGCACAGAGGCAAGGACAGGGCAGGAGGGAGTTGCTCAGCCCCTGCACCCCCATTACCTCCCAGCTGTATTCCATAAATCAAGGAGGTGGAGTCAGTCCCACTTTCTAGATGGGGGAATAAGGCCCCTTCATTCATTCATTCCATAGATATTTGTGGAGTGCCTCTTATCTACCAAGCTCTGGGCCCCGTGCCAAAGGGACTTGGGACACACATACAGTGGGAAGAAGCCCTAAGACTGCTCCTCCGCCCACCCTGGAAGCTCCAGGAAGCAGCCACCTCCACACTAATTGGTCTGTCTGAGCTGGCAAACCTTCAGAGAACTCAGCGAGTCACAACATCCTTGTACAACAGCCGCCGCCCTGGGCTGGGTGTGGACCCGGGGCAGAGGGCAGACAGCGGGCATAGCTGTCCCAGGCATCACCCTTCTGGGCTCAGGGCAAGCCACTCAGACCCACAGCTTCTGCACTGCAGCTTGCATTCATGCTCTGAGAGGTTCATTCTCCCTCAAACACTGCCCCAGCCAGGGCAAGCTCTTTCTGGGGCCAACCAGAGACCCCAGGCTGGTTCCCCACAAAACCAGCACAGCAAGACCTGCCTCGGTGCACAGTCTGGGTCTGGGATGTGAAGCTGTCTACACCAAGGAGCCACCCATCACCTGCCCCAACCCTTTGGTCTCTCGCACACTAGCTTGCCCAGCCCCATCTCCTCAGGATCATGCCTGTCCAGGCTCTGGAGTCACAGGGCTGAAGGAGATAGGAGAAGAAAGCTCCAGCTATAGGGGCTAGATGTCAGTCCCCATAAATCTGCCTTCAAGCATTAGGGTCCAGGTGATACCCTCAGGGAAGATGACGGTCAAGATGGCATTGGGATGGTCACGTCAATCCACACATGGAGGGCTGCCTGAGAAGGTACACTCTGACGCTGGGTCCTGTCAGGCTTGTTTCCCTAGGGTCTGGGTTGGAGTCCTTTCTCCCAGGCGGGCTTGAGCGAGTCCCTCCCCCTTCCTCTGGGGGTCCTGACTAAACCTGGAGACCTAGGTGGGGGTGAGGAAAGCTCCAGGCTGAGGGCGATAGGGATGTCATTAAAGCCAGAGCTGCCTTTTAGGTACCTAACAAATCACCCACCCTCCCAGAGGGACCCTGTCAGCTGGGTCCCCTGAGTGGGGGTGCCCAGGCCATGGTACAAACCTGGGCAGGCCGGGCCTGCCACGCACACAGTCAGGCCAGAGCTGGCGGCGCCTCACCAGCATGGCCAGGAGCAGCAGCACAAGGATCTGAAAGGAGAGTGCAGAGGAGGGCTTGGGGTGCCCAGGCCTCCCCTGAGGGTCTGAGTTTGAGGGCTTGGACTCAGGCCCCAGGATATCCCCTACCTGCCCAGTGCACACTCATGTGACATCTTGGGGACTGGTCAAGGGGTGACAGACATCTGGAAGGTTGGACTTGCATCCTGGTTTGGGCCTCCAAGCTGGGAGAACTCCCAGATAGCTCCCCCCACCCAGGATCTTCCAGGGCCCCCCTTCACCAGCCCCAGTGGGGAACACAGGTCCCACTGCCCAGGCTGGCAGCAGCTTGCAAGCCAGGTTCAACTTGGGTTGGACTCACTGACAGCGAGGCCAGGCAGGCGTGGTACAGGCCGGGTGGTATGCTGGTGTGGCAGGAGGGCACTTCCCTGCAGAGCAAATGAAGGCTGGCTCAGGCCTGCGTCAGGCCCCCCTGGGTGTGCAGATGGGTCTGGGGTTCAAGACTGTTCACACTGAGGCTTTACCCACTACCTCCCTCAACCCTCTGATCCCTCCTACACAAGCCTTCCCAGTCCCACCTTCTCAGGGTCATTCTGGGGCCCTCGTGTCCCTGTGATGTGCCAGCCCCATGCCAAGCTCTGGGGTTATAAGACTAAAGGACATGGGAAGCTCCCAGGGGAAGCAGAGTAGACCGGCTCGGCCTGATCACTTATTCTCTTTTTTTTTTTTCTGGAGGGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTTACTGCAGCCTCA
CCTTCTCGAGCCCTGCAGAGATGCTCACCCCTCCCCCAGGCTCCTGGATCCCCACGGGCCTGAGAGGAGCCAAGAGGAGGAGATCACTTGATTCCCTCCTGCCCCCCACTGGAAAGGACACCTCTTTCTGTTTCTGTGTTCCCGGAGCATTAGGAACAGTTCTGAAAATCACACGAAAGCCTGCCTTTGCCTACATATAGTTTTCAACCTGAGCATCAGGAAAGTCTATGCCCTACTCCTCAGGGCTGAGGCCTTCCTGGGGGTGGGCTTTTTGTATACTCATTCATTTATTTGTTGGTTCAATATACTTTTATTGAGAGCTTAGTATGTGCCAGGTTCTAGGTGGTGAAAAAAAGCCACCAAGTTCCCCCTCTCAAAGCAACCTCTTAGTCTTCACCTCCACCCTGAGGGACTGGTGTTATCAGCTCCATGGACGGATGGAGAAACGGTCTCAGAAAGGTGGCACTGTTTCCCCAAGGCACTTGGTACCACCTGGCATCATTTTGTTTGCGTGTCATGTCTGCCCTTCTGAAGTGACGGCTCTTGGGAGGCTAGGGACTGTTTGTCTTGTTCATAGCTGTAGTCCAGTGCCTGGAAATGTCCCTGGTACAAAGTATGTGCTTCAAATATGTTGTTGAATGAATGGGTGAGTGAATGAATGAAGTGGTGAAGCTGGATTCACACTCAGGTTGTCTGGCTCTAAAGCCTGTACCATCACTCTTTGAGTTCTAGACTGGACAGCTTCACAGCCCCAGCCAGCAGCCAGTGAGCAAGGTCCTGAGGTTCCGGAATTCTCCTCTCAGCCCTCTTAGACCATCCCTGACTTCGCACTTGCCGGCCTCCATCAAGCTTCACTCCCATTCCCTCTCCAGCCTGACCAAAGGGAAGCTGGGGGATCACTAACACAGGCATTGGGGGTGGGGGCCATTTCAGGCTTTCTCTTCCCCCTACTCTGCCCACTTCCCCTTCTCCGCCACCTCCTAGACTTAAAGTTCCTGAGGGCTGGGCCCAGCCACCTTGTTCCCTGCCTCTCCTGCAGAGCAGCCAAGCTTGGAAGGGGCACATGTTTGAAGGCATGGAATCCCATGCACAATGGAAGGCTGCAGGGCGGCCCATCATAGAATCAGAGCTCAAAGGAGGCACTGTGGTTTGAGTAGGTTGCTCTGTGCGCCCCTCTGCCCTAGGCCATTGTGATCAGCGGTTACCTTGGGCACCTGGGGACACTCTGCCCTCTGCCAGACCTGGACCCCAAGGTGGGCCCAGGACAGCGTGCTGCCGAGCAGGTGTGCAGCTGTGTGGCCAGCCGTGGCACAGGCAGCCAGAGGGTAGTAGAGGGCAGCATAATAGAACAGTCCCAGTATCTTCCAGGCCCCTGGAAGGTGAAACAAGCAGAGAGACCCATGCTGGAGGGGCAGACATGGGGCCTGCAGTGAGCCCACCCAGGCCTCTCTTCGGTCTCCAGCTTCCAAGCCCTTCAGCACGTTCAGTGGGCAAGAACACTAGGTTCAAATCCAGGCTCTGACTAGTCTCAACTCTGTGATCTTGGGCAAGTTACCTCTTGGAGCCTCAGTTTTCCCATCTGTAAAATGAAAATAATCACAGTATATTAGCAAGGGCAAAATGAGAAGGTGGATATATAATGCTTAGCATGGTGCCTGAGCAAATACTCAATTTAAGATACTACTTCCCTGGCTCTCAGTTCCTCCATTGCAAAATGGGGCTAATATGCATACTTTGTAGCATCGTTGTAAAGACTGGATGGTCTAAAAAGGTCACGTCTCAGGATAGCAGCCCATCTCATTGACAGCTGTTCCTGTTACTCTCATCTCCTTGAGCCAAGCTTAAAACTCCGAGACCCCACCCTACCCCATCCCATCACACCAACCCCAGGGCCTGGGGGTCAGTGGGTACCTTGGCTGGGTGCTGAGGCGAGAGTCAGGAAGGGCAATGCGTCCTCGTCGGGGAGCAGCAAACACAGGGAGCTCAGGAGGACCATGAAAACAGCAGCAGGCACTGCCCGGGGCCTGTCCCCAGCCAAGAAATCCACAAGGCTAGCACAGAGGCAAGGACAGGGCAGGAGGGAGTTGCTCAGCCCCTGCACCCCCATTACCTCCCAGCTGTATTCCATAAATCAAGGAGGTGGAGTCAGTCCCACTTTCTAGATGGGGGAATAAGGCCCCTTCATTCATTCATTCCATAGATATTTGTGGAGTGCCTCTTATCTACCAAGCTCTGGGCCCCGTGCCAAAGGGACTTGGGACACACATACAGTGGGAAGAAGCCCTAAGACTGCTCCTCCGCCCACCCTGGAAGCTCCAGGAAGCAGCCACCTCCACACTAATTGGTCTGTCTGAGCTGGCAAACCTTCAGAGAACTCAGCGAGTCACAACATCCTTGTACAACAGCCGCCGCCCTGGGCTGGGTGTGGACCCGGGGCAGAGGGCAGACAGCGGGCATAGCTGTCCCAGGCATCACCCTTCTGGGCTCAGGGCAAGCCACTCAGACCCACAGCTTCTGCACTGCAGCTTGCATTCATGCTCTGAGAGGTTCATTCTCCCTCAAACACTGCCCCAGCCAGGGCAAGCTCTTTCTGGGGCCAACCAGAGACCCCAGGCTGGTTCCCCACAAAACCAGCACAGCAAGACCTGCCTCGGTGCACAGTCTGGGTCTGGGATGTGAAGCTGTCTACACCAAGGAGCCACCCATCACCTGCCCCAACCCTTTGGTCTCTCGCACACTAGCTTGCCCAGCCCCATCTCCTCAGGATCATGCCTGTCCAGGCTCTGGAGTCACAGGGCTGAAGGAGATAGGAGAAGAAAGCTCCAGCTATAGGGGCTAGATGTCAGTCCCCATAAATCTGCCTTCAAGCATTAGGGTCCAGGTGATACCCTCAGGGAAGATGACGGTCAAGATGGCATTGGGATGGTCACGTCAATCCACACATGGAGGGCTGCCTGAGAAGGTACACTCTGACGCTGGGTCCTGTCAGGCTTGTTTCCCTAGGGTCTGGGTTGGAGTCCTTTCTCCCAGGCGGGCTTGAGCGAGTCCCTCCCCCTTCCTCTGGGGGTCCTGACTAAACCTGGAGACCTAGGTGGGGGTGAGGAAAGCTCCAGGCTGAGGGCGATAGGGATGTCATTAAAGCCAGAGCTGCCTTTTAGGTACCTAACAAATCACCCACCCTCCCAGAGGGACCCTGTCAGCTGGGTCCCCTGAGTGGGGGTGCCCAGGCCATGGTACAAACCTGGGCAGGCCGGGCCTGCCACGCACACAGTCAGGCCAGAGCTGGCGGCGCCTCACCAGCATGGCCAGGAGCAGCAGCACAAGGATCTGAAAGGAGAGTGCAGAGGAGGGCTTGGGGTGCCCAGGCCTCCCCTGAGGGTCTGAGTTTGAGGGCTTGGACTCAGGCCCCAGGATATCCCCTACCTGCCCAGTGCACACTCATGTGACATCTTGGGGACTGGTCAAGGGGTGACAGACATCTGGAAGGTTGGACTTGCATCCTGGTTTGGGCCTCCAAGCTGGGAGAACTCCCAGATAGCTCCCCCCACCCAGGATCTTCCAGGGCCCCCCTTCACCAGCCCCAGTGGGGAACACAGGTCCCACTGCCCAGGCTGGCAGCAGCTTGCAAGCCAGGTTCAACTTGGGTTGGACTCACTGACAGCGAGGCCAGGCAGGCGTGGTACAGGCCGGGTGGTATGCTGGTGTGGCAGGAGGGCACTTCCCTGCAGAGCAAATGAAGGCTGGCTCAGGCCTGCGTCAGGCCCCCCTGGGTGTGCAGATGGGTCTGGGGTTCAAGACTGTTCACACTGAGGCTTTACCCACTACCTCCCTCAACCCTCTGATCCCTCCTACACAAGCCTTCCCAGTCCCACCTTCTCAGGGTCATTCTGGGGCCCTCGTGTCCCTGTGATGTGCCAGCCCCATGCCAAGCTCTGGGGTTATAAGACTAAAGGACATGGGAAGCTCCCAGGGGAAGCAGAGTAGACCGGCTCGGCCTGATCACTTATTCTCTTTTTTTTTTTTCTGGAGGGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTTACTGCAGCCTCA
Task1_train_21719
This genomic variant is located on Chromosome 15, within the CYP11A1 (cytochrome P450 family 11 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
GGGCAGGAGAGCAGATTGGGCCAGGGGAAAGGAGGCACCTACAGGGAGTCAGGAGGCCCAGGTTCTGGGGGCAAACAGGCTGTGTGACCTCAAGGGACCCAAGCAACCTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATG
GGGCAGGAGAGCAGATTGGGCCAGGGGAAAGGAGGCACCTACAGGGAGTCAGGAGGCCCAGGTTCTGGGGGCAAACAGGCTGTGTGACCTCAAGGGACCCAAGCAACCTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCAGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATG
Task1_train_21720
This alteration occurs within gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
CTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCT
CTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCTCCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCT
Task1_train_21721
A variant was discovered in gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not provided
TGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCTCAACACCTGCCTGCTGCTCCCCAATACCCCACTCCCCACCTCTCTCCAACACACACCTAATGTTCCAGCTACATGGAGTGGCACACAGCCCCTGAAGCCCAGAAGTCTTCCCCACGCTAGGTCCTCTTCCTGGAATTCCCTTCCCCGCCTAAGAAGGAAGGATGTGCTCCCTCTGCAAGACTCTAATCAAATGTGTGTATTCATCTCAGTACTGCCAAGGCCTGCCATAGAGATGTACTTGGGATTTAATAAGGTGGTTAACTATGTTACTAGCTGTGTGACCTCGACCAAGTTATTTAACCTCTCTGTGCTCTACTTTCCTCATCTGAAAAAGGGGGATGATGGTAACATACCTTAGAGGGTTGTTTGTGAGTATTAAATGAGGTAACATATGTAAACAGCTTAGGACCCTGCCTGCCATATAGTATGTGCTTAATAAATGTGACCTCACAGTAATCGTTTCTTTGGTGCCGGTGAGTGATTTTTGAAGATCTCTTCTACGTAATAGACAATGAACTATGTTTAAGGTATGCTCAAAGGCTCCATTTGCAGTCTGTCTCAGGGATGGAAACTCCTTCATCAGAGTGTAACACAGATATAATACCTGGGAATGAAAGTGATTCACCCAGGGGGCTTGACATGTGCTTCTCCCTAGTCCTGAAATGCTATTCCTTCTCTCTCCTCCTGGCAACAGCCTGCAAGACACGCACGTTGAATTTTAGCTCCTCTGTGGAGCCTTCTCCGTGTCCTTCATGGCCACATTAGCCACTCCCCACCTCTCAGCTTTGTCAGTGGCAGGTGCTTGCCTCTGTCACTGCAGTGTGCTATTCCTCCGTTCACACTGCTGCCTCCCTGTTATAGGCTGAGCTGTATACCCCCTCCCAAAATTCATCTGCTGAAGTCCTAA
TGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCACAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCTCAACACCTGCCTGCTGCTCCCCAATACCCCACTCCCCACCTCTCTCCAACACACACCTAATGTTCCAGCTACATGGAGTGGCACACAGCCCCTGAAGCCCAGAAGTCTTCCCCACGCTAGGTCCTCTTCCTGGAATTCCCTTCCCCGCCTAAGAAGGAAGGATGTGCTCCCTCTGCAAGACTCTAATCAAATGTGTGTATTCATCTCAGTACTGCCAAGGCCTGCCATAGAGATGTACTTGGGATTTAATAAGGTGGTTAACTATGTTACTAGCTGTGTGACCTCGACCAAGTTATTTAACCTCTCTGTGCTCTACTTTCCTCATCTGAAAAAGGGGGATGATGGTAACATACCTTAGAGGGTTGTTTGTGAGTATTAAATGAGGTAACATATGTAAACAGCTTAGGACCCTGCCTGCCATATAGTATGTGCTTAATAAATGTGACCTCACAGTAATCGTTTCTTTGGTGCCGGTGAGTGATTTTTGAAGATCTCTTCTACGTAATAGACAATGAACTATGTTTAAGGTATGCTCAAAGGCTCCATTTGCAGTCTGTCTCAGGGATGGAAACTCCTTCATCAGAGTGTAACACAGATATAATACCTGGGAATGAAAGTGATTCACCCAGGGGGCTTGACATGTGCTTCTCCCTAGTCCTGAAATGCTATTCCTTCTCTCTCCTCCTGGCAACAGCCTGCAAGACACGCACGTTGAATTTTAGCTCCTCTGTGGAGCCTTCTCCGTGTCCTTCATGGCCACATTAGCCACTCCCCACCTCTCAGCTTTGTCAGTGGCAGGTGCTTGCCTCTGTCACTGCAGTGTGCTATTCCTCCGTTCACACTGCTGCCTCCCTGTTATAGGCTGAGCTGTATACCCCCTCCCAAAATTCATCTGCTGAAGTCCTAA
Task1_train_21722
A genomic change on Chromosome 15 affects CYP11A1 (cytochrome P450 family 11 subfamily A member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
GAAAGAGGCCTTTAGAATGCACCAACCCTGCCAACACCTTGACCTTGAACTTCCAGCCTCCGGAACTGTGAGAAAATCAATGTTTGTTGTTTAAATCGCCCAGTCAATGCCATTTTGTTACAGCGGCCCTAGCAAACCAGTACACCCCTCCCCTCTGAGCCACGTGAGGACATTTGAGGTCTACTGTATTCCTTTTGAGATGGAGTCTCACACTACCACCTGAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACCACAATCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAGGTGCCCACCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCATGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGACTGATTATTCTTAATATCCAAAGAAAGAAGTTTCTAGGGTGCCATGCTGCTATGGAAAGAGCACTGGGGATGCCTCTGGGCGTTGGGGGCACCGTAGGGTACTGAGGTCTGGAAAGGGGAGGAGGAAGGACAACAAAAAGACCATGGACGGCAGAGCCCACAGCAAATGCCTCGGCCTCCCAATGTTTCCGGGCTCCTGCCTGCTTCCCTGGATTTGAGTGAGTGTGTTCTCCACCAGGAGCTGGGGGCATTGTCCTCCATCAGCAGGGCTCTGATAGAGCAAGCCTCCAGAGGGGACCTCCTCCTGTGGAGACTCTACGTGGAACCTGGACCTCACCACCATGCCCGGCCACTCCTCTCTCACAGGCAAAGAAAAATAGCTGATCATCCTCAAATCATGCCCTGGGTGACTTGACTTTGACCCCACCATCTTAGGAGATTAGCGCTTTGGAAATGGAGGCAAGGAGGAAGACATATCCTACATGAGTAGGAACGCCTTGAACAACAGGGTTTCAGACAACGAGGGGCCTGGTGGGGAAGGGGCACGTGGGCACAGGGGGCAACAAGGTGCCGCCCCTACAGCCACCTCACCGTGTCCACCCCTCCTGCCAGCATCTCTGTGACGTTGGCCTTGATGTCCTCGAAGGACATCTTGCTGTCTCCCAGGAGTCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCAGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCGCCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGA
GAAAGAGGCCTTTAGAATGCACCAACCCTGCCAACACCTTGACCTTGAACTTCCAGCCTCCGGAACTGTGAGAAAATCAATGTTTGTTGTTTAAATCGCCCAGTCAATGCCATTTTGTTACAGCGGCCCTAGCAAACCAGTACACCCCTCCCCTCTGAGCCACGTGAGGACATTTGAGGTCTACTGTATTCCTTTTGAGATGGAGTCTCACACTACCACCTGAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACCACAATCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAGGTGCCCACCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCATGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGACTGATTATTCTTAATATCCAAAGAAAGAAGTTTCTAGGGTGCCATGCTGCTATGGAAAGAGCACTGGGGATGCCTCTGGGCGTTGGGGGCACCGTAGGGTACTGAGGTCTGGAAAGGGGAGGAGGAAGGACAACAAAAAGACCATGGACGGCAGAGCCCACAGCAAATGCCTCGGCCTCCCAATGTTTCCGGGCTCCTGCCTGCTTCCCTGGATTTGAGTGAGTGTGTTCTCCACCAGGAGCTGGGGGCATTGTCCTCCATCAGCAGGGCTCTGATAGAGCAAGCCTCCAGAGGGGACCTCCTCCTGTGGAGACTCTACGTGGAACCTGGACCTCACCACCATGCCCGGCCACTCCTCTCTCACAGGCAAAGAAAAATAGCTGATCATCCTCAAATCATGCCCTGGGTGACTTGACTTTGACCCCACCATCTTAGGAGATTAGCGCTTTGGAAATGGAGGCAAGGAGGAAGACATATCCTACATGAGTAGGAACGCCTTGAACAACAGGGTTTCAGACAACGAGGGGCCTGGTGGGGAAGGGGCACGTGGGCACAGGGGGCAACAAGGTGCCGCCCCTACAGCCACCTCACCGTGTCCACCCCTCCTGCCAGCATCTCTGTGACGTTGGCCTTGATGTCCTCGAAGGACATCTTGCTGTCTCCCAGGAGTCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCGGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCGCCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGA
Task1_train_21723
A variant was discovered on Chromosome 15, affecting CYP11A1 (cytochrome P450 family 11 subfamily A member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
TCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCAGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCGCCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCT
TCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCAGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCACCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCT
Task1_train_21724
This variant affects the gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
TATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCTATAATCCTAGCACTTTGGAAGGCTGAAGCGGGAAGATTGCTTGAGCCCAGGGGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTATACTAAAAATGTAAAAATTGGCTGGGTGTGGTGACACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGTGCCGGGGGGCAGAGGCTGCTGTGAGCCATGATCAAACCACTGCACTCCAGCCTGGATGACACAATGAGATCCCATCTCAAAATAAAAAAAAATTTATGAACAATTTCGTAGAAAACAGTATCCACTACACTTAAATACACTGATCTGTCCCCATGTAGGACAAATGTCTCACTGCCCCTTTAGCCTGTATGGGACTCACGGTGGCAGGTCCCTGCTCTATTTGTCACTGTATCTCCAGTTCCTGGCACAAGTCCTGATTCATCAAGGATGCTCAGTAAGGTGGGACTCAGTGAGCAAACCAGTCAGTGAGAACTTTGCCAGATCTTTAATTATTCATTAGGATCTTCAGCATGGCCATTTCCCTGAAGGCTGGCAGAGCAATTCATCATCATCATCATCATCATCACCATCATTTGTTTTAGGGAGGCAGGAAAATGACGGGGATTCACCTAGAGGCCCTGCTAGGAGGCACAGGGCAAGCCTGGCCTCAGCCCCTCACCCCCAGCCTCTGCCCTCTCCACAGCTCCCCACCACCTCCCTCCAGTCCCTGGGAGATGGCCCAGGACTCACTTCAACAGGACTCCTATGGGTCTCTGGTAATACTGGTGATAGGCGACCCAGGGCGGGATGAGGAATCGTTCTGGGTTGGGGCCCTCGGACTTAAAGAGAAGGGCCACATCTTCAGGGTCGATGACATAAACCGACTCCACGTTGCCGAGCTTCTCCCTGGAGGGGTGGGGGAGAGGGGCTGATGGAAGGATCCGAGGAGAGCTATGGATACAGGCTCAGCACAGCTGCCTCACAGTTCCACAACTTGCTGACTGTGGGACCTGAGTCGAGGCCCTTAACCCCTCTGAGTCTCAGTTTCCTCTTCTGTAAAATGGAGACAAATACAGTACCTGTCTCGCAGCGCTGCTGAAGGACAAGACAATAGGAAGTATATGGATGTGACCTTTGTTAAACATTCTACAAGTGAGAGCTTTATGATCACTGTTGCTGCTGTCCCACAGCACATCCCCAGGGCCAGCCCAAAGCCACCCCCGAGCCTTCCATGGACCAGCAAGTCCTCCACTCCTTGCGCATTCTTCCTGTGTCCACACCTACAGCAGCCCCAGCTTCTCACCTGTCCACAGAGCTCAGAACCATGGCACACTTTCATGTCACTGCTAGAGTGACTCACTATAGCTTGCAAGGTAGGCCATATTCCAGGCCAAATCCCTGTCAGACTCTACAACTGAAATTCTGAGAGTGGCCACCCTGACCCTAAGAGTCAGAGGCCACCCAACAACACGCTTTGTCTCTATTAAAATAAAACTTCAGTAAAACATCAAGCCCCAACATACAGGCAGGGGAGACAGGCTTGCAAATCACTTTGCAGACAATCTGTATTAAATACAACTGGGTTTTTGTTGTTATTGTTGTTTTGAGACAGGGTCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGCCCTGACCTCCCAGGCTCAAGCGACCCTCTCACCTCAGCCCGGCCAAGTACCTGGGACTACAGGCACCACCATGCTTAATTTTTGTGTTTTTTGTAGAGATGAGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATGGCAGGTTTGAGCCAATGTGCCTACCCACATACAACTGTTACATATGACTGGTGTTCTTACATGAAGAGATGAGGACACGGATACACAAAGAGGAAGGACCATGTCAACACACGGGGAAAAGATAGCATCTAACTCCAAGGAGAGAGGCCTCAGAAGAAAGCAAGCAACTCAGCCAAAACCTTGATCTCTGACTTCTAGTTTCCAGAACTGCCAGAAAATTAATTCTGTTGTTTAAGCAAAAAATAAGAAATAAAAATACAACTACTAAAAAACAACAGAAAATTCCACTTCTTGCTAGCCTCTGCCTTTTATCGAAGAAAATTAAGATACACTTTTAGGCAAAATAGCATAAAAACATGGAGATACAAGCCAAGTGTGCTCATGTGTGTGCATGTTCTCTCTCTCTCTCCTCTCATAGTGCTGCTTTAACCACTGAGCCAGAAAGCCTGGGCCTACCTTGATGAGTTTCAGGCCTTCACTTGTTCTGTGGCCTCCCAGAAAATCCCCTCAGTGTTTTTCCAGCTACCATGTGTCTTTGCACTAACTAGCTCCATACCCCTAACCAAGTTCAGCCAAGCCCTTGAACTGCTATTATCATGATCAATTCCACTTCTGGGAATCTAGCCCAAGGCAATGATCTGACATCAGCAACAATGCTTGATGGATAAGGATGTCCATTGCAGCCTCATGTCTAACAGCAAAAAAGTCAAGAGTAGGTTGTATGTTCACTTTAAAGAACCCGCGAAAAAAAAAATCCATACTGTGAACTACTATGCTGCCTTTTAAAATTATATTAGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGAGGGAGAGGGAGGATCACTTGCGCCCAGGAATTCAAGGCTACAGTGAGCCTATGATGGCACCACTGCACTCCACCCTGGGAGACAGAGCAAGACCCTGTTT
TATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCTATAATCCTAGCACTTTGGAAGGCTGAAGCGGGAAGATTGCTTGAGCCCAGGGGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTATACTAAAAATGTAAAAATTGGCTGGGTGTGGTGACACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGTGCCGGGGGGCAGAGGCTGCTGTGAGCCATGATCAAACCACTGCACTCCAGCCTGGATGACACAATGAGATCCCATCTCAAAATAAAAAAAAATTTATGAACAATTTCGTAGAAAACAGTATCCACTACACTTAAATACACTGATCTGTCCCCATGTAGGACAAATGTCTCACTGCCCCTTTAGCCTGTATGGGACTCACGGTGGCAGGTCCCTGCTCTATTTGTCACTGTATCTCCAGTTCCTGGCACAAGTCCTGATTCATCAAGGATGCTCAGTAAGGTGGGACTCAGTGAGCAAACCAGTCAGTGAGAACTTTGCCAGATCTTTAATTATTCATTAGGATCTTCAGCATGGCCATTTCCCTGAAGGCTGGCAGAGCAATTCATCATCATCATCATCATCATCACCATCATTTGTTTTAGGGAGGCAGGAAAATGACGGGGATTCACCTAGAGGCCCTGCTAGGAGGCACAGGGCAAGCCTGGCCTCAGCCCCTCACCCCCAGCCTCTGCCCTCTCCACAGCTCCCCACCACCTCCCTCCAGTCCCTGGGAGATGGCCCAGGACTCACTTCCACAGGACTCCTATGGGTCTCTGGTAATACTGGTGATAGGCGACCCAGGGCGGGATGAGGAATCGTTCTGGGTTGGGGCCCTCGGACTTAAAGAGAAGGGCCACATCTTCAGGGTCGATGACATAAACCGACTCCACGTTGCCGAGCTTCTCCCTGGAGGGGTGGGGGAGAGGGGCTGATGGAAGGATCCGAGGAGAGCTATGGATACAGGCTCAGCACAGCTGCCTCACAGTTCCACAACTTGCTGACTGTGGGACCTGAGTCGAGGCCCTTAACCCCTCTGAGTCTCAGTTTCCTCTTCTGTAAAATGGAGACAAATACAGTACCTGTCTCGCAGCGCTGCTGAAGGACAAGACAATAGGAAGTATATGGATGTGACCTTTGTTAAACATTCTACAAGTGAGAGCTTTATGATCACTGTTGCTGCTGTCCCACAGCACATCCCCAGGGCCAGCCCAAAGCCACCCCCGAGCCTTCCATGGACCAGCAAGTCCTCCACTCCTTGCGCATTCTTCCTGTGTCCACACCTACAGCAGCCCCAGCTTCTCACCTGTCCACAGAGCTCAGAACCATGGCACACTTTCATGTCACTGCTAGAGTGACTCACTATAGCTTGCAAGGTAGGCCATATTCCAGGCCAAATCCCTGTCAGACTCTACAACTGAAATTCTGAGAGTGGCCACCCTGACCCTAAGAGTCAGAGGCCACCCAACAACACGCTTTGTCTCTATTAAAATAAAACTTCAGTAAAACATCAAGCCCCAACATACAGGCAGGGGAGACAGGCTTGCAAATCACTTTGCAGACAATCTGTATTAAATACAACTGGGTTTTTGTTGTTATTGTTGTTTTGAGACAGGGTCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGCCCTGACCTCCCAGGCTCAAGCGACCCTCTCACCTCAGCCCGGCCAAGTACCTGGGACTACAGGCACCACCATGCTTAATTTTTGTGTTTTTTGTAGAGATGAGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATGGCAGGTTTGAGCCAATGTGCCTACCCACATACAACTGTTACATATGACTGGTGTTCTTACATGAAGAGATGAGGACACGGATACACAAAGAGGAAGGACCATGTCAACACACGGGGAAAAGATAGCATCTAACTCCAAGGAGAGAGGCCTCAGAAGAAAGCAAGCAACTCAGCCAAAACCTTGATCTCTGACTTCTAGTTTCCAGAACTGCCAGAAAATTAATTCTGTTGTTTAAGCAAAAAATAAGAAATAAAAATACAACTACTAAAAAACAACAGAAAATTCCACTTCTTGCTAGCCTCTGCCTTTTATCGAAGAAAATTAAGATACACTTTTAGGCAAAATAGCATAAAAACATGGAGATACAAGCCAAGTGTGCTCATGTGTGTGCATGTTCTCTCTCTCTCTCCTCTCATAGTGCTGCTTTAACCACTGAGCCAGAAAGCCTGGGCCTACCTTGATGAGTTTCAGGCCTTCACTTGTTCTGTGGCCTCCCAGAAAATCCCCTCAGTGTTTTTCCAGCTACCATGTGTCTTTGCACTAACTAGCTCCATACCCCTAACCAAGTTCAGCCAAGCCCTTGAACTGCTATTATCATGATCAATTCCACTTCTGGGAATCTAGCCCAAGGCAATGATCTGACATCAGCAACAATGCTTGATGGATAAGGATGTCCATTGCAGCCTCATGTCTAACAGCAAAAAAGTCAAGAGTAGGTTGTATGTTCACTTTAAAGAACCCGCGAAAAAAAAAATCCATACTGTGAACTACTATGCTGCCTTTTAAAATTATATTAGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGAGGGAGAGGGAGGATCACTTGCGCCCAGGAATTCAAGGCTACAGTGAGCCTATGATGGCACCACTGCACTCCACCCTGGGAGACAGAGCAAGACCCTGTTT
Task1_train_21725
This variant lies on Chromosome 15 and affects the gene SEMA7A (semaphorin 7A (JohnMiltonHagen blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Cholestasis, progressive familial intrahepatic, 11
GGGTCAGGGAGCAGGAAGACGTCTTGCAGCCTGTTGAAGTTCTTGTTGGTGGCAGCATCACTGCATACCAGCATGGCTTTCAGAAAAGTGTTCCACTTGGAGACTGACAGTGAACTTTCCCCACCCTGGTCCCCCTGGAAGGGTAGAGGGGAGAAGAGGCCCCTCAGCACCTGCCCGGGCTTCCCCACACACCCCAGGAAACCACTGCCAGCAATATCAACACCTGGGCCCAGAGGAGGAAGGCAGGCTGTGAGGGGCCAGGACCTGCCGGGGGTGCCCCAGGACTCAGGGCAGGTCTCCAGATGAGACTCCAGCAAGCAGGCCTGGCTGATCCAGAGCCCAGGGCCAGCAGTGCCCAGGGTCAGGGCAGGTGAGAGTGCCAGGTCCCCACAGAGCAGACGGACTCAGACACACATTTACTGACTCACACACCCACACACGTGGCACAGCACATTCACACAGGCAAAACACACACACACACACACACACACCCCATCATACACACGCTCACACGCCATCATACGTGCACAGGAGCTCAGCCACCTTTACCCACACACAGACACATGATGCTCCATGCACACACAGCTGCTCCCACAGTCCCTGACACAGACCCACTCATACATCCACACAACTTCTACATGCACACGGACACACAGAACTCACCCTCACTCAGGCCTATTCATGCACAGACACGTAGCCAGCAGCCCTCACGCCCCTGCTCACCCTGCACAACTGGGCCACACGGGACACATTGAGAGGAGCCTCAGGATTCTTGTCAGGATTGTCCTCTCGGAAGAAGTAGTAGATCTTGTCATCGTAAGCCTGGTCTTGGTGCACGATGGTGGCTTTGATGAACTGTGGGTCTGCCAGGGACAGAGGCGAGTGGGCGTAAGGCTGGGAAGCTTGCCCGGGAGACCATCCCAACCCTGCACACTCTCCTCCCTCCTTCGGGTCTGCACAAACCATGGCAAATCAGATCTGGAATAGGACTCAGAACATCAGGTCCAACTCCCCGAGGGGCCCTAGACCCTGCACCTCCACCCCACACCTGTTTTGCCCTCTTCCTACAAAGATGTCATCGGCCCAGGAGCAATGACTTCATGCCTGGGGACTGGGGGAAGGTCCCTGGGGGCCCCTATGTCACTTCTGCTCAATTGGCAGAGCCCTGATGAGGAGGGAGTTGGGGGCTGCCTCCACGTGAACTCAGCAGAGGATAAACTTTGGCTCCTGGGGACCCTGCACTGGGTCTGGGGCTCCCTCTGTTTGTGTTCCTGAAGAGGGCTGGGCCCATCCCACTGCTATACCTTGTCTGTTCCTCTGCTCCCAGCCAACCCTAACTTCTCAGGCCTATACCAAGGTCCTGCTTTCCTGCATGGCCCCAGCGGCCCTCAGGGAGCCCTCCCAGAAACATCAGGATCCCATCTGCCACCTTAAGTGCTCACACCCCCTTGCCCACCCTCAGCCCAGCCGGAGCCTGACTCACTCTGCATGACAGTATCACTGGTGTACAGCTCACTCTCGCCCCGGATGCGGCGGAACCGAGGGATCTTCCCATTGTATTCCTGCTTCCGGATGGTGGAATACACCTCGTCCCCTGGGGTCAGTGGGAGGGAGAAATGAGTAAGGGCAGGCAGCTCCTGGAAGTCCCTCCTCCGGACACTGGACAAAGAGCTGACCACTCCTCTCCCAGCCCAGTTCAGAAGCATCCCCCTGGGGCGCCTGCTCCAGCACTGCCCTACCTTCAAACAGAACCAGGGAGTTCTCGTCCGGGCTGAAGGGGGCGTAGCCTCTCATCTCGCCAAGTGGCACCACAGTGCCATTCACCTGTGGGAGATCCAGAGGGTTGGATGGCCACATAATCCCACAGCCACTGCCTCCCATGACGGCCAGTTTCTCGGCCAGGAGCCCCATCCTCCCAGGGCAAGGCCAGCATTGGAGTCTCGCCATCTCCTTCCCACCATGAGGGGCAGAAGCCCACGCAGTAGAAGGTGAGCTGATCAGGCACATGGGGAGCAGCCTTCTCACCAGGTTCCAGCAGCTGGGGTGCCGGGCGTTGGTGCCACAGGCCAGCAGCCCCTCACTCCGCCTCTCCAGGAGAGTGATGTAGTTCTCGCAGTCCTGCCCGGGGAAGAGAGAAGGGAGGAGAGAAATTGGTTGCTGGAAGGCCCTGGCAAGCCTAGCACTAGGACCCCCAGGATCAGGGAAGAAGGTGTCAGAAGGGCTTAGCATAGGTGACAGCCTCCCGGGACAGCCCAGAGTGTGTGCAGCTGACGCCATCCCCTAAGCACAGAGGACCACGTCTCCCCATCAGTCTGGGACTCGTGGGGCAGGGCCATGCTTCCTTCCTTAGACCCTCAGGGTCTCCTCTCCCTTTACCAAGTGGCTCAGACCCCTCCATACCCCCTCCCCCACTCACCCGCTTATCCAGACAGGACCCCTTTGTGGAGCCGATATTCACCTGGGGGAAGGGGAGAAGCATTAGTTCAATCTGCCAGGGGTGAGGTACCCCTGAAATGCTTTCCACACAGCCTCAGGATAAGCCCCAAAGGAAGCAACCATTATTCTCATCTGACAGATGAGCAACTGGGGCTCTGAGAGGGTGAGTGATCTACCTGAGGTCAAACAGGGTCTCATATCCAGAGCTGAGGCCCAGAGGGTTCAGAAGACCAGGCATGGGCTCTGGGGCCCAGCTTCCAGCCTGGGCTTTCCGCAGCAGCGCTGCCCAGCTGGCCAGGCCCATTAGCTCCTGTTTTTCTCCACACCGCCCCAGCTCCCCACTCCAATCTGGACTACCTTTAGGGAGCCTCCCCCAGGAGCCATTTATAGGATACGGAGGTGGGGGCAGTTTAGGAAGAGAAGCCAGCTCCCTCGGATTCCCTGAGGACCCTTGGCAGGGCCAGAGGGGAGATAAGAGGGTAGGGGGGGTGTTGGGGGAAGAGAGAGGCTCACCGTGCGCACAGATGCGTTCTTGCCCTCGGGGAAGTCAAAGAGGTAGACCTTGCCACGTCCTCCCACCCACACAGAGGAGCTGCCTGGCTCGTGGAAAAGCACCGTGTGCGGCTCAGTCTGGCCAAAGTCCACCCGGTCCTGCCCTACATGGCCTGAGGAGGAGACAATTAGTAGAAACATTGAAGCCAGGTCCCGAGAGAGAAGACTCTGGGTCCCCTCCACATGGCACACTGGAACCAGTGCTTGGTGCTCAGGGTCCTGGCAGGGCGTCAGACAAGCTCTGGGCTGGGGTGGTACCCAGACTCAGAGAGTCAAGGACAGGAGAAGTAAGAGATCCTCCGGTGGGCTCCAGCAACCAGCTGTCCTCACCCACAGCACGGCCCCTCCCCTAGTGTGGCAGCCTCTCCTTCCTTCACAGTATGTGTGATCTCAGAGTGGGGAAGGATTTAGGGACCTCTTGGGGGAACAGACCCCCTCCTCTGGCACACACTTTTGAGGGCTGGGCTAAGGCAGGAGGACCAGGGCTCCTTGGCCATGCTCTGGGAGGTTCTCTGCTGCCCTAAGCCAAAGCAAGCAGCGCCCCCCAACCCCGGGCCTTTCAGCAGGCAGCAGGGCCTTCAAGCACCCCCCTTGGAGTCCAGGTTCCCAGGAATCACAATGCTCAGAACCCCTTCTCCTCCTTCAGGAATCCCTCTCCAACCTCTCCTGGCCCATCCCCAGCCCCTTAGTGAGCACTAGACTAGAGGAGGAAAGGAATCTCAACATCTACTCCGTCCCATTTCACAGATGGGAAAACAGAGGCCAAGGGAGGGGCAGCCCAAGGGCACACGGAAGCAGGTCAGTAGCAGACCCTGAACCAGAGCCTGCACTCCTGCCTACCAAGCTGGACTCTATTCCATGGCCCACTCTGGCCTGGTTTCACCCATGAGGATGCTAGCTCTCCGGGGGGTGAAGATCGGCTCTTCCTCCCCAGCAACTCTGGGACAGGGGAACCTTCACAGAGCACAGCCTGGGACTTTCAGCAGAAGGGCTGACCGGGAAAATTTTCCCCAAAAAAGAAACTGACTGCAGCCACTGCCTCTGGGGAGGTGTCTCATCTCCAGTGACACTGCTGAGGTTGTCCTGGTTGCAGGAGTAAATTATAGGG
GGGTCAGGGAGCAGGAAGACGTCTTGCAGCCTGTTGAAGTTCTTGTTGGTGGCAGCATCACTGCATACCAGCATGGCTTTCAGAAAAGTGTTCCACTTGGAGACTGACAGTGAACTTTCCCCACCCTGGTCCCCCTGGAAGGGTAGAGGGGAGAAGAGGCCCCTCAGCACCTGCCCGGGCTTCCCCACACACCCCAGGAAACCACTGCCAGCAATATCAACACCTGGGCCCAGAGGAGGAAGGCAGGCTGTGAGGGGCCAGGACCTGCCGGGGGTGCCCCAGGACTCAGGGCAGGTCTCCAGATGAGACTCCAGCAAGCAGGCCTGGCTGATCCAGAGCCCAGGGCCAGCAGTGCCCAGGGTCAGGGCAGGTGAGAGTGCCAGGTCCCCACAGAGCAGACGGACTCAGACACACATTTACTGACTCACACACCCACACACGTGGCACAGCACATTCACACAGGCAAAACACACACACACACACACACACACCCCATCATACACACGCTCACACGCCATCATACGTGCACAGGAGCTCAGCCACCTTTACCCACACACAGACACATGATGCTCCATGCACACACAGCTGCTCCCACAGTCCCTGACACAGACCCACTCATACATCCACACAACTTCTACATGCACACGGACACACAGAACTCACCCTCACTCAGGCCTATTCATGCACAGACACGTAGCCAGCAGCCCTCACGCCCCTGCTCACCCTGCACAACTGGGCCACACGGGACACATTGAGAGGAGCCTCAGGATTCTTGTCAGGATTGTCCTCTCGGAAGAAGTAGTAGATCTTGTCATCGTAAGCCTGGTCTTGGTGCACGATGGTGGCTTTGATGAACTGTGGGTCTGCCAGGGACAGAGGCGAGTGGGCGTAAGGCTGGGAAGCTTGCCCGGGAGACCATCCCAACCCTGCACACTCTCCTCCCTCCTTCGGGTCTGCACAAACCATGGCAAATCAGATCTGGAATAGGACTCAGAACATCAGGTCCAACTCCCCGAGGGGCCCTAGACCCTGCACCTCCACCCCACACCTGTTTTGCCCTCTTCCTACAAAGATGTCATCGGCCCAGGAGCAATGACTTCATGCCTGGGGACTGGGGGAAGGTCCCTGGGGGCCCCTATGTCACTTCTGCTCAATTGGCAGAGCCCTGATGAGGAGGGAGTTGGGGGCTGCCTCCACGTGAACTCAGCAGAGGATAAACTTTGGCTCCTGGGGACCCTGCACTGGGTCTGGGGCTCCCTCTGTTTGTGTTCCTGAAGAGGGCTGGGCCCATCCCACTGCTATACCTTGTCTGTTCCTCTGCTCCCAGCCAACCCTAACTTCTCAGGCCTATACCAAGGTCCTGCTTTCCTGCATGGCCCCAGCGGCCCTCAGGGAGCCCTCCCAGAAACATCAGGATCCCATCTGCCACCTTAAGTGCTCACACCCCCTTGCCCACCCTCAGCCCAGCCGGAGCCTGACTCACTCTGCATGACAGTATCACTGGTGTACAGCTCACTCTCGCCCCGGATGCGGCGGAACCGAGGGATCTTCCCATTGTATTCCTGCTTCCGGATGGTGGAATACACCTCGTCCCCTGGGGTCAGTGGGAGGGAGAAATGAGTAAGGGCAGGCAGCTCCTGGAAGTCCCTCCTCCGGACACTGGACAAAGAGCTGACCACTCCTCTCCCAGCCCAGTTCAGAAGCATCCCCCTGGGGCGCCTGCTCCAGCACTGCCCTACCTTCAAACAGAACCAGGGAGTTCTCGTCCGGGCTGAAGGGGGCGTAGCCTCTCATCTCGCCAAGTGGCACCACAGTGCCATTCACCTGTGGGAGATCCAGAGGGTTGGATGGCCACATAATCCCACAGCCACTGCCTCCCATGACGGCCAGTTTCTCGGCCAGGAGCCCCATCCTCCCAGGGCAAGGCCAGCATTGGAGTCTCGCCATCTCCTTCCCACCATGAGGGGCAGAAGCCCACGCAGTAGAAGGTGAGCTGATCAGGCACATGGGGAGCAGCCTTCTCACCAGGTTCCAGCAGCTGGGGTGCCAGGCGTTGGTGCCACAGGCCAGCAGCCCCTCACTCCGCCTCTCCAGGAGAGTGATGTAGTTCTCGCAGTCCTGCCCGGGGAAGAGAGAAGGGAGGAGAGAAATTGGTTGCTGGAAGGCCCTGGCAAGCCTAGCACTAGGACCCCCAGGATCAGGGAAGAAGGTGTCAGAAGGGCTTAGCATAGGTGACAGCCTCCCGGGACAGCCCAGAGTGTGTGCAGCTGACGCCATCCCCTAAGCACAGAGGACCACGTCTCCCCATCAGTCTGGGACTCGTGGGGCAGGGCCATGCTTCCTTCCTTAGACCCTCAGGGTCTCCTCTCCCTTTACCAAGTGGCTCAGACCCCTCCATACCCCCTCCCCCACTCACCCGCTTATCCAGACAGGACCCCTTTGTGGAGCCGATATTCACCTGGGGGAAGGGGAGAAGCATTAGTTCAATCTGCCAGGGGTGAGGTACCCCTGAAATGCTTTCCACACAGCCTCAGGATAAGCCCCAAAGGAAGCAACCATTATTCTCATCTGACAGATGAGCAACTGGGGCTCTGAGAGGGTGAGTGATCTACCTGAGGTCAAACAGGGTCTCATATCCAGAGCTGAGGCCCAGAGGGTTCAGAAGACCAGGCATGGGCTCTGGGGCCCAGCTTCCAGCCTGGGCTTTCCGCAGCAGCGCTGCCCAGCTGGCCAGGCCCATTAGCTCCTGTTTTTCTCCACACCGCCCCAGCTCCCCACTCCAATCTGGACTACCTTTAGGGAGCCTCCCCCAGGAGCCATTTATAGGATACGGAGGTGGGGGCAGTTTAGGAAGAGAAGCCAGCTCCCTCGGATTCCCTGAGGACCCTTGGCAGGGCCAGAGGGGAGATAAGAGGGTAGGGGGGGTGTTGGGGGAAGAGAGAGGCTCACCGTGCGCACAGATGCGTTCTTGCCCTCGGGGAAGTCAAAGAGGTAGACCTTGCCACGTCCTCCCACCCACACAGAGGAGCTGCCTGGCTCGTGGAAAAGCACCGTGTGCGGCTCAGTCTGGCCAAAGTCCACCCGGTCCTGCCCTACATGGCCTGAGGAGGAGACAATTAGTAGAAACATTGAAGCCAGGTCCCGAGAGAGAAGACTCTGGGTCCCCTCCACATGGCACACTGGAACCAGTGCTTGGTGCTCAGGGTCCTGGCAGGGCGTCAGACAAGCTCTGGGCTGGGGTGGTACCCAGACTCAGAGAGTCAAGGACAGGAGAAGTAAGAGATCCTCCGGTGGGCTCCAGCAACCAGCTGTCCTCACCCACAGCACGGCCCCTCCCCTAGTGTGGCAGCCTCTCCTTCCTTCACAGTATGTGTGATCTCAGAGTGGGGAAGGATTTAGGGACCTCTTGGGGGAACAGACCCCCTCCTCTGGCACACACTTTTGAGGGCTGGGCTAAGGCAGGAGGACCAGGGCTCCTTGGCCATGCTCTGGGAGGTTCTCTGCTGCCCTAAGCCAAAGCAAGCAGCGCCCCCCAACCCCGGGCCTTTCAGCAGGCAGCAGGGCCTTCAAGCACCCCCCTTGGAGTCCAGGTTCCCAGGAATCACAATGCTCAGAACCCCTTCTCCTCCTTCAGGAATCCCTCTCCAACCTCTCCTGGCCCATCCCCAGCCCCTTAGTGAGCACTAGACTAGAGGAGGAAAGGAATCTCAACATCTACTCCGTCCCATTTCACAGATGGGAAAACAGAGGCCAAGGGAGGGGCAGCCCAAGGGCACACGGAAGCAGGTCAGTAGCAGACCCTGAACCAGAGCCTGCACTCCTGCCTACCAAGCTGGACTCTATTCCATGGCCCACTCTGGCCTGGTTTCACCCATGAGGATGCTAGCTCTCCGGGGGGTGAAGATCGGCTCTTCCTCCCCAGCAACTCTGGGACAGGGGAACCTTCACAGAGCACAGCCTGGGACTTTCAGCAGAAGGGCTGACCGGGAAAATTTTCCCCAAAAAAGAAACTGACTGCAGCCACTGCCTCTGGGGAGGTGTCTCATCTCCAGTGACACTGCTGAGGTTGTCCTGGTTGCAGGAGTAAATTATAGGG
Task1_train_21726
A variant on Chromosome 15 in gene EDC3 (enhancer of mRNA decapping 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Intellectual disability, autosomal recessive 50
AGATGAATGCAATACTTAAGCTAAATCTGGCCAGGGCAGGGGGAATGAGTGGCTAAGCAAAGAACAGCAGGGAGAAAGGCATCTCAGGTAGGGGCTCAGAGACTGAGGAAATGTAGAAAATATGGCCCACGTGAGGAACTGCAAGTGTTATGGTGATACTAAAGGGACGGATGTTGTGGAAGGCCATCAGGAAGTAAGGTTGCAGAGGTAACCAAGGACCACATCATGATCACAATGGATTTTCCTGGTGGCTATAGGGAAGGAGAAGAAAAAAGAGGCAGTGGTACCAGTTAGAAGACCAAGCAAGAAATAAGAGGGGATGAACCAAGCAAGCGGTAATACAAAGGGAGAAGGGATCAAGAGACATTTCGAATCCATACGATTTTGGCAACTAACTGAACACGAGGATTAAAGAGAAAGAAGAGTTTATTATGACTCCTAAGTTTCTAACATAGGGGAAAGGTGTTATTAGTCATAAATAATGGGTATGCCCTTGGAAAAACAAATCTACAGGAAAACATAACGAGATTAGCTCCGAAAATCTTGCATTTAAGATATCTTGTGGGATGTCCAATGGAAATGACCAGCAGACAAGGTGTCTGTCTCATAATGGGACTAAATTAAAGATTTGAGGTCTTGGCTGGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGAAGGGCAGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAACAAAATTAGTCGGGCATGGTGGCGGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGATGGAGTTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGTGACAGAGTGAGACTCCATCAAAAAAAAAAAAAAAAAAAAGATTTGAGGTCTCATTAACATATAGAGTACACAAGAGTTTGTCTAGAGAATAAAAGCTGAGAAAAGAACCAAAGATAGAACCCTGAGTAATTCAATCTTAACAGGTGAGTAGAAGAAAAGGAACATAAAAAACAACAAAAAAAGTAAAGGAATGGAGGAATATGTGGAATACATGCAAAGAAAAACCAAAGAGGTGACAGGGAAACTAAAGGACAGTACTGTACTTTAAAAGATAGGGAGCATTTTATTTTTATTTATTTTTTTACAGACAGGGTCTTGCTCTATTACCCAGGCTGGAGTGCAGTGGTGCTATCATAGCTCACTGCAGTCTCCAACTCCTAGGCTCAAGTGATCTTCCTGTCTGAGCCCCAGGAGTAGCTGCGATTACAGGCACATGCCACCACACCCAGCTAATTTTTAAAATTTTTCTTTTGTAAAGACGAGGTCTCACTATGTTGACTAGCCAGTTTTGAAATCCTAGCCTCAAGTGATACTGCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATAAGCCACTGCACCCATCAGGGAGCATTCAAATGAGATTGGGATTGAGATACTGTCAGTGAATTTGGCCATTAGGTTATTTGTAACCTTGGCAAAAACTAATTCAGCAAGATGACAAAGTTAGAAAAAAAGATAATGGTAGGGTACGGAGGTTCTAGAGAATGAAGCCACAAAAGATAGAGAAAGCAGATTATTTGGCTCTGACAAGGATTATGGGTTAAAGGGAAGGGAAATGACACAACAATACCTAGTGGCAAATGCAAGATCTAAGGGAGAGGGTTGTTTTTAATAAAGGGGAGGCCAAGGAATGAATATCGGAATGCAAAGAGGAAATAAACAGTATAGGCCGGGCATGGTGGTTCACACCTGAAATCCCAGCACTTCGGGAGGCCACAACGGGCAGATTACTTGAGGCCAGTAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGCGGCCATATGCCAAGAGAATACTAGCAATCAGACCTAGGTTCAAGCTCCACAGACCACCAGGTTGGATTCAGAAGAGTCAGTCAGGACACTCACCTGAAGGTGACTTCTGGAACAAGACACTTCACTCCATTATGGAAAGGCCGGGTGAGAGAAATGGTCTGGCTGACCTGATCCACAGCTGACACTCTTCCCTGATAGACACCCAAGCTATCTCCACAATTGATGGACACAATACTTCCCAGCCAATCTGTAGCCATGTTTCACACGTGAGACCACTGTGAAGAGAAGGAACTATTCAGTGTGCCTTGGTGAAAAGACAAACTTTTAATTAAATTCAGCAAATATATCAGGCTCTGTACCAAGTGTTGGTTAATAAAACATATTCTATCACATTGTTAACTGAGGTAATAAATCTTAAAAAAATTAAAATTTTTTTTCAGGAGTATGAATATTAAAAAATAATATTATTTAATACATATAAAGATCTTATAATTGCTTTAAAGCGCATACATTGGATAAAGATATTTATTACACATCAAATCACACAAACTATAATCTGTTTATATTGTATTTTAATAAATCTGCTGTCAAAATGTTTTCAAAGAGAGTATGTTGCTGAGAAATAATATATTAAAAAAACAAATTACTGATAATGCCACTCTTGCTGATGATGATAATAATAATAATAATTAATAATAATAGTAAATTCTGGATAGTTGTTTTTTTTTTTTTTGAGACGGAGTTTCACTATTGTTGCCCAGGCTGGAGTGCAATGGTGCGAGGCGGGCAGATCACGAGGTCACGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCCGGGAAGCTGAGGCAGGAGAATGGCGTCAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGCCTCAAAAAAAAAAAAAAGAAATTTTTTTAAAGCCAATTGAAGGTACTATAGAACACTAAACCTAACGACTACAGAATATATATCCTTTTCAAGTCTACATAGAATGTTCACGCATATATGCTGGGCCTTAAACAAGTATGAATAAATTTAAAAAGACTGAGATCACATAAAATATATTCTCTACCCACAACAGAATTAAATTTGAAATTGATAAAAATAGATATTTAGAATATTCCCAAATATTTGGAAATTAAGCAAGACATTTCCAAATAACCTATGGGTAAAAGAAGAAATCAAAAGGGCAGTCAGAAAATAGTTCTAACTCAACGATAATGAAAACACAACATCAACTTTTGTATGACATGCTTAATATAGTGCGTAAAAGGGGGAATTTATAACTTTAAGTGCTTGTTAGGAAAGAAAGGTCTAAAATCAATTGTCTAAGCTTCCATCTTAAGTATTAGTAAAAAAAGAACAGATTAACCTGATGTTAATAGAAAGGAAATCAAGAGCAGAAACCAATGAAACAAGAAACAACTAAGAAAAATAAAACAAAAATTAGCTCTTTGAAAATATTAATAAAGTTGGTAAACACCTAATAAAGAAAAAAGATAAAACACATATTATTAATATCAGAAATGAACAAAGAGACATCATAGACATTAAAAAATAACCTTATGCCAGCAAATTTGACAACTAGACAAAATGGGGAACTTCTTAGACAAAAGTTATCAAAACTGACACAAGAAATTAAAAATCTGAGTAGCTGCATGTCTATTTTAAAAACTGAATTTATCAAGAGAATAAGACAAGACACAAATTAGGAGAAAATATTTGTGAAAGACATATTTGATAAAGGTCTGTTATCCATAACATACCAAGAACTCTTAAAACTCAACAATAAGAAAATGAACAACCTGATGAAACAATGAGCAAGAGACCCAAAAGGATACTTCACCAAAGAAGACATGGACACGGCAGGCAAGCATATGAAAAGATGCTCTACATCATATCATCAGGGAATTAATGGAAATTAAAACAACAATAAGATGCCACTACACACCTGTCAGAATGGCCGAAATCCAAAACACTGACAACACCAAATGCTGACGAGGATGTGGAGCAACAAAAACC
AGATGAATGCAATACTTAAGCTAAATCTGGCCAGGGCAGGGGGAATGAGTGGCTAAGCAAAGAACAGCAGGGAGAAAGGCATCTCAGGTAGGGGCTCAGAGACTGAGGAAATGTAGAAAATATGGCCCACGTGAGGAACTGCAAGTGTTATGGTGATACTAAAGGGACGGATGTTGTGGAAGGCCATCAGGAAGTAAGGTTGCAGAGGTAACCAAGGACCACATCATGATCACAATGGATTTTCCTGGTGGCTATAGGGAAGGAGAAGAAAAAAGAGGCAGTGGTACCAGTTAGAAGACCAAGCAAGAAATAAGAGGGGATGAACCAAGCAAGCGGTAATACAAAGGGAGAAGGGATCAAGAGACATTTCGAATCCATACGATTTTGGCAACTAACTGAACACGAGGATTAAAGAGAAAGAAGAGTTTATTATGACTCCTAAGTTTCTAACATAGGGGAAAGGTGTTATTAGTCATAAATAATGGGTATGCCCTTGGAAAAACAAATCTACAGGAAAACATAACGAGATTAGCTCCGAAAATCTTGCATTTAAGATATCTTGTGGGATGTCCAATGGAAATGACCAGCAGACAAGGTGTCTGTCTCATAATGGGACTAAATTAAAGATTTGAGGTCTTGGCTGGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGAAGGGCAGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAACAAAATTAGTCGGGCATGGTGGCGGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGATGGAGTTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGTGACAGAGTGAGACTCCATCAAAAAAAAAAAAAAAAAAAAGATTTGAGGTCTCATTAACATATAGAGTACACAAGAGTTTGTCTAGAGAATAAAAGCTGAGAAAAGAACCAAAGATAGAACCCTGAGTAATTCAATCTTAACAGGTGAGTAGAAGAAAAGGAACATAAAAAACAACAAAAAAAGTAAAGGAATGGAGGAATATGTGGAATACATGCAAAGAAAAACCAAAGAGGTGACAGGGAAACTAAAGGACAGTACTGTACTTTAAAAGATAGGGAGCATTTTATTTTTATTTATTTTTTTACAGACAGGGTCTTGCTCTATTACCCAGGCTGGAGTGCAGTGGTGCTATCATAGCTCACTGCAGTCTCCAACTCCTAGGCTCAAGTGATCTTCCTGTCTGAGCCCCAGGAGTAGCTGCGATTACAGGCACATGCCACCACACCCAGCTAATTTTTAAAATTTTTCTTTTGTAAAGACGAGGTCTCACTATGTTGACTAGCCAGTTTTGAAATCCTAGCCTCAAGTGATACTGCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATAAGCCACTGCACCCATCAGGGAGCATTCAAATGAGATTGGGATTGAGATACTGTCAGTGAATTTGGCCATTAGGTTATTTGTAACCTTGGCAAAAACTAATTCAGCAAGATGACAAAGTTAGAAAAAAAGATAATGGTAGGGTACGGAGGTTCTAGAGAATGAAGCCACAAAAGATAGAGAAAGCAGATTATTTGGCTCTGACAAGGATTATGGGTTAAAGGGAAGGGAAATGACACAACAATACCTAGTGGCAAATGCAAGATCTAAGGGAGAGGGTTGTTTTTAATAAAGGGGAGGCCAAGGAATGAATATCGGAATGCAAAGAGGAAATAAACAGTATAGGCCGGGCATGGTGGTTCACACCTGAAATCCCAGCACTTCGGGAGGCCACAACGGGCAGATTACTTGAGGCCAGTAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGCGGCCATATGCCAAGAGAATACTAGCAATCAGACCTAGGTTCAAGCTCCACAGACCACCAGGTTGGATTCAGAAGAGTCAGTCAGGACACTCACCTGGAGGTGACTTCTGGAACAAGACACTTCACTCCATTATGGAAAGGCCGGGTGAGAGAAATGGTCTGGCTGACCTGATCCACAGCTGACACTCTTCCCTGATAGACACCCAAGCTATCTCCACAATTGATGGACACAATACTTCCCAGCCAATCTGTAGCCATGTTTCACACGTGAGACCACTGTGAAGAGAAGGAACTATTCAGTGTGCCTTGGTGAAAAGACAAACTTTTAATTAAATTCAGCAAATATATCAGGCTCTGTACCAAGTGTTGGTTAATAAAACATATTCTATCACATTGTTAACTGAGGTAATAAATCTTAAAAAAATTAAAATTTTTTTTCAGGAGTATGAATATTAAAAAATAATATTATTTAATACATATAAAGATCTTATAATTGCTTTAAAGCGCATACATTGGATAAAGATATTTATTACACATCAAATCACACAAACTATAATCTGTTTATATTGTATTTTAATAAATCTGCTGTCAAAATGTTTTCAAAGAGAGTATGTTGCTGAGAAATAATATATTAAAAAAACAAATTACTGATAATGCCACTCTTGCTGATGATGATAATAATAATAATAATTAATAATAATAGTAAATTCTGGATAGTTGTTTTTTTTTTTTTTGAGACGGAGTTTCACTATTGTTGCCCAGGCTGGAGTGCAATGGTGCGAGGCGGGCAGATCACGAGGTCACGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCCGGGAAGCTGAGGCAGGAGAATGGCGTCAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGCCTCAAAAAAAAAAAAAAGAAATTTTTTTAAAGCCAATTGAAGGTACTATAGAACACTAAACCTAACGACTACAGAATATATATCCTTTTCAAGTCTACATAGAATGTTCACGCATATATGCTGGGCCTTAAACAAGTATGAATAAATTTAAAAAGACTGAGATCACATAAAATATATTCTCTACCCACAACAGAATTAAATTTGAAATTGATAAAAATAGATATTTAGAATATTCCCAAATATTTGGAAATTAAGCAAGACATTTCCAAATAACCTATGGGTAAAAGAAGAAATCAAAAGGGCAGTCAGAAAATAGTTCTAACTCAACGATAATGAAAACACAACATCAACTTTTGTATGACATGCTTAATATAGTGCGTAAAAGGGGGAATTTATAACTTTAAGTGCTTGTTAGGAAAGAAAGGTCTAAAATCAATTGTCTAAGCTTCCATCTTAAGTATTAGTAAAAAAAGAACAGATTAACCTGATGTTAATAGAAAGGAAATCAAGAGCAGAAACCAATGAAACAAGAAACAACTAAGAAAAATAAAACAAAAATTAGCTCTTTGAAAATATTAATAAAGTTGGTAAACACCTAATAAAGAAAAAAGATAAAACACATATTATTAATATCAGAAATGAACAAAGAGACATCATAGACATTAAAAAATAACCTTATGCCAGCAAATTTGACAACTAGACAAAATGGGGAACTTCTTAGACAAAAGTTATCAAAACTGACACAAGAAATTAAAAATCTGAGTAGCTGCATGTCTATTTTAAAAACTGAATTTATCAAGAGAATAAGACAAGACACAAATTAGGAGAAAATATTTGTGAAAGACATATTTGATAAAGGTCTGTTATCCATAACATACCAAGAACTCTTAAAACTCAACAATAAGAAAATGAACAACCTGATGAAACAATGAGCAAGAGACCCAAAAGGATACTTCACCAAAGAAGACATGGACACGGCAGGCAAGCATATGAAAAGATGCTCTACATCATATCATCAGGGAATTAATGGAAATTAAAACAACAATAAGATGCCACTACACACCTGTCAGAATGGCCGAAATCCAAAACACTGACAACACCAAATGCTGACGAGGATGTGGAGCAACAAAAACC
Task1_train_21727
This sequence change occurs on Chromosome 15, altering MPI (mannose phosphate isomerase). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; MPI-congenital disorder of glycosylation
CACTTTACCCGCAGGTCAGGAGAAAGGGCCTGAGGCAAGTCATAAGAATCAGCTGGGAAGGGTGAGGCAGCAAGGAGGGAGGAGACCCACTTGGCTCTTCAGGCTAATGGACTAGATAGTGTTATCAAAAAGAAGAGAGGTTTTGTCATAATAGGCTGGGATTTCCAGCACTCTCCTTCCCCCAACCACTCTTAGCACTTAGTGAATTTTAATTCAGCCCTCTTTGACAATTAAGTTTTTTTACTTTGACTATTTTTTTGCATTTTTATTAACCTAAAATATTTCTCCTGCCTATTTAGTGGAGAAAAAGCCAAAGCATAGGAAGGCTTTCGCCTCTGCTTCTGAAACTGGAAGATGTATGTTAACCCCTGAAAGAATCATTTAAGAGTCATAGTTTTTCTGCTACCTTGACAGTGCAGATGTCATTCTCCTCTTTGGACAGACAAAGAAGATACATCTAAAGAAGGGAAATAACTAGTCCAAGTCTTCATAGATGGCTAGAGGCCGAGTCTGGACAAGGGCCTGGGTCTACTGCCTCCCTGTATGTCCATGATGGCATGAACATTTGTATCCAGACCTGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAA
CACTTTACCCGCAGGTCAGGAGAAAGGGCCTGAGGCAAGTCATAAGAATCAGCTGGGAAGGGTGAGGCAGCAAGGAGGGAGGAGACCCACTTGGCTCTTCAGGCTAATGGACTAGATAGTGTTATCAAAAAGAAGAGAGGTTTTGTCATAATAGGCTGGGATTTCCAGCACTCTCCTTCCCCCAACCACTCTTAGCACTTAGTGAATTTTAATTCAGCCCTCTTTGACAATTAAGTTTTTTTACTTTGACTATTTTTTTGCATTTTTATTAACCTAAAATATTTCTCCTGCCTATTTAGTGGAGAAAAAGCCAAAGCATAGGAAGGCTTTCGCCTCTGCTTCTGAAACTGGAAGATGTATGTTAACCCCTGAAAGAATCATTTAAGAGTCATAGTTTTTCTGCTACCTTGACAGTGCAGATGTCATTCTCCTCTTTGGACAGACAAAGAAGATACATCTAAAGAAGGGAAATAACTAGTCCAAGTCTTCATAGATGGCTAGAGGCCGAGTCTGGACAAGGGCCTGGGTCTACTGCCTCCCTGTATGTCCATGATGGCATGAACATTTGTATCCAGACCTGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGACGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAA
Task1_train_21728
The following genetic variant occurs in MPI (mannose phosphate isomerase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; MPI-congenital disorder of glycosylation
TGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAAGACTCCGATTCGGAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAATTTAAAAATTAAAGAAGTCCACCCTTGCCACTCTACCCAGGCTGAGCTCATTTTCCCTTGTCGTTTCCAGGACACATTTTGGCCCTCAGCGCATTCTGCCTCATGCTCTCTGGAGCAGACCGAGAGAGATTCTCTGAGACATAGAACTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGATCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAAACTGGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTCCTGAGATGACAGGTGTGAGCCACCGCGCCCAGCTGAGACACAGAACTTTCAGTGCTAAAAACTAGAAAGTCGCCGGGTGCGGTGGCTCACACCTGTATTCCCAGCACTTTGGG
TGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCAGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAAGACTCCGATTCGGAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAATTTAAAAATTAAAGAAGTCCACCCTTGCCACTCTACCCAGGCTGAGCTCATTTTCCCTTGTCGTTTCCAGGACACATTTTGGCCCTCAGCGCATTCTGCCTCATGCTCTCTGGAGCAGACCGAGAGAGATTCTCTGAGACATAGAACTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGATCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAAACTGGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTCCTGAGATGACAGGTGTGAGCCACCGCGCCCAGCTGAGACACAGAACTTTCAGTGCTAAAAACTAGAAAGTCGCCGGGTGCGGTGGCTCACACCTGTATTCCCAGCACTTTGGG
Task1_train_21729
Here is a variant affecting MPI (mannose phosphate isomerase) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; MPI-congenital disorder of glycosylation
GCATGTTGGTTACCCTTCATGAAACTCTTTTGCGTTATCTCCCTAGATTTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCG
GCATGTTGGTTACCCTTCATGAAACTCTTTTGCGTTATCTCCCTAGATTTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGGGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCG
Task1_train_21730
Given this variant in gene MPI (mannose phosphate isomerase) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; MPI-congenital disorder of glycosylation
TTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCGCCCACTGGGTTCAAGCGATTCTTCTGCCTCAGCTCCTGAGTAGCTGGG
TTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCATGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCGCCCACTGGGTTCAAGCGATTCTTCTGCCTCAGCTCCTGAGTAGCTGGG
Task1_train_21731
The variant affects gene COX5A (cytochrome c oxidase subunit 5A), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 20
AAGTTTTTTCATTTGCCTCCAATTTGAGACCTTAACTGAATTAACTACCAGTGCTGAATGGATTGATAGCCTACAGAACCCTTAATTATCTTACCCATTATAGATAAAGTAATGTCACACTTTTGCTGTTAACGGACCTTAAGTTTCTTTCTTACAGACCACAGTATCTTTTCATGGAGAGCTGTACTTTGAGAATACATATGTCCAGGGCTGGAGACTTTTCACTGTAATATATAGTTACACCTGTGCTGTCACAAGGTTCCTTAGGAACGAATAAGAAGTCAAAAGAACTAAGAAAGTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAACTGAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTTAAAATACAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGACCTCGGAGGTTGCAGTGAGCTGAGATCACGCAATGATTGCACTCCAGCTTGGGCGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAACTCAGAAATTATGACCAAATAAGAAGGAGGAAAATTAGTATATATCCTCCTATGTTTTCATATAATGTATATATATATTTTTTGAGATGGAGTTTCTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGACTAGCTGGGATTACAGGCATGCACCCCCACGCCCGGCTAATTTTTTATTTTCAGTAGAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGACACAAATATGTTTAAAGTCAAACACATTTCTACAGTATCAACAGTTGTGTAGTATAACCAGTTCTGGGAAGCTCCCTCTTAAGAATTCCTAACATTTCGTATGACAAATAGCAAGAAGATGAATACACTTTGTAGTTAAATCTTTATATATCCTTTATTATTTCCTTGATAAATTCCTTTCTTTTTTTTTTTAGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTGGGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCTGTCTTGGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATTGCATGATCCACCCGCCTTAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACACACGGCCAAGATAAATTCTTAAAAAAGAAAGAAAAAAAAAAAAGAGAGAAAAAAGAAAAAAGATAAATTCTTAAATGGAATTGCTGAACAAAAGTGTATCATGTACAATTTGTAAGGCCTTGAATAAATGCTGCCAAAGTAGCCTCTAGAAAGATTTTAACTGCAATGTACATTCCTTCTAGTTATATAAGGACTCATTTTAGGCATTTTAACAAATTCAAAAATACAGAATATTCTGATACCTCAGCAATAGCCCACTCATTTACAGAACAATTTTAGCATTATTATTTCACTGACCTTAACAACCTCTAGGATACGAACTGTACTAGCAAAATCATTTAACCGTCTGCATGCCCGCAAAGCAGCATCAATGATTTTGGGCTCTGGAACCATATCATAGGTAACAAGTGTGTTTATCCCTGCAAAATTAAAAAGAAGGGCCATGTCAACCTCGAAGAGCCTCACTTAAACTATGAGTTATTTATATTTTTACTGAATCACTGATGTATGATCTTATCTGTCTGGGTCTCCATTCTCTTACCTATAAAATGAGAGAAACCTACCTTTAACAAATTCTAGATAATAAGATCACAGTGGATCTCCCTTAGTGAATCAGTGGAAAGAAAGAACTATGCAACAGCACGCAGATTGAAGGAAAAAATCCTGAGTTTTTTTTTTCCCCTTTGAGAACAAGAGGGTCATTTTCAACTCCTAACTTTTTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCCACCTCAGCTTACTGCAACCGCTGCCACCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGGGTGCCACCAAGCCCAGCTAATTTTAGTATTTTTAGTAGAGACGGGGTTTCAGCATCTTGGCCTGGCTGGCCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACATCCGGCCCTCCTATCTTTAACTCTTAGTACAATGAACACATTTTGGATGCTTTAAAAGAGATTCAAGGCTGGGCTCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTATTAAAGATACAAAATTGGCCGGGCGTGGTGGCACATGCCTGTAATTCCAGCTACTCTCGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGTGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCTAGCCTGGGCAATAAGAGAGAAACTCCATCTCAAACAAAACAAAACAAACAAACAAAAAAACCAAAATAAAAGAGATTCAACTGGAAAACAGCCTAAAAACAGCCAGAGAAATGCGTAGAGTTAATGAAGCCTAAATGAGGACATTAAGGAGATATTATAGAGAAACATTAGTACACAGACTCATAAACATTCAACCAGAAAATGATTGGGCATGATTACTTTCAGATCTGCACAAAATGACACATAATAAAATTTAAGATTCTCTTAATGGGAATACATAATTGTTCTTTTTATTACTTCTACTCCAGATTGTTCAGTAAGAATTCTATTGGTTGTAGCAAAAGGGAATCATTACATTTCTGCAGAGAAGTTTAAAGCACTTAGGTTTCTTGCTTTTATTACTTTAAAATATTTAAACAAAGGATACCAGTGAATACGATAGTCATTGAGATTGAATTTTTGGTATGAGATAAATTACCCTACACCTAATTCTATTTTTTCATGTTAAGTGTGCATCTGCAAATTTAGGAAAGACAAGTTCTAACTTACTTAGATACTTATTCATGGCAAAACAATGCAAAAATAACAAAAAACCCAAACCATCACCCAAAGGGGAAGGGAACCAAATGACTGCTTTGTGTAAATTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCCTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGTGCTATGTAAATTGTTTGAAATGTACAAAACTGTTACCTTTTGCTCATCTAGCCTTATTGCTATAGCAGTGGTTTTCAATTAAGGGTGACTTCATCCCTCAGGAGACACTGGGTAATGCCTAGAAACATTTTTGGTTGTCATGATACGAATG
AAGTTTTTTCATTTGCCTCCAATTTGAGACCTTAACTGAATTAACTACCAGTGCTGAATGGATTGATAGCCTACAGAACCCTTAATTATCTTACCCATTATAGATAAAGTAATGTCACACTTTTGCTGTTAACGGACCTTAAGTTTCTTTCTTACAGACCACAGTATCTTTTCATGGAGAGCTGTACTTTGAGAATACATATGTCCAGGGCTGGAGACTTTTCACTGTAATATATAGTTACACCTGTGCTGTCACAAGGTTCCTTAGGAACGAATAAGAAGTCAAAAGAACTAAGAAAGTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAACTGAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTTAAAATACAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGACCTCGGAGGTTGCAGTGAGCTGAGATCACGCAATGATTGCACTCCAGCTTGGGCGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAACTCAGAAATTATGACCAAATAAGAAGGAGGAAAATTAGTATATATCCTCCTATGTTTTCATATAATGTATATATATATTTTTTGAGATGGAGTTTCTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGACTAGCTGGGATTACAGGCATGCACCCCCACGCCCGGCTAATTTTTTATTTTCAGTAGAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGACACAAATATGTTTAAAGTCAAACACATTTCTACAGTATCAACAGTTGTGTAGTATAACCAGTTCTGGGAAGCTCCCTCTTAAGAATTCCTAACATTTCGTATGACAAATAGCAAGAAGATGAATACACTTTGTAGTTAAATCTTTATATATCCTTTATTATTTCCTTGATAAATTCCTTTCTTTTTTTTTTTAGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTGGGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCTGTCTTGGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATTGCATGATCCACCCGCCTTAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACACACGGCCAAGATAAATTCTTAAAAAAGAAAGAAAAAAAAAAAAGAGAGAAAAAAGAAAAAAGATAAATTCTTAAATGGAATTGCTGAACAAAAGTGTATCATGTACAATTTGTAAGGCCTTGAATAAATGCTGCCAAAGTAGCCTCTAGAAAGATTTTAACTGCAATGTACATTCCTTCTAGTTATATAAGGACTCATTTTAGGCATTTTAACAAATTCAAAAATACAGAATATTCTGATACCTCAGCAATAGCCCACTCATTTACAGAACAATTTTAGCATTATTATTTCACTGACCTTAACAACCTCTAGGATACAAACTGTACTAGCAAAATCATTTAACCGTCTGCATGCCCGCAAAGCAGCATCAATGATTTTGGGCTCTGGAACCATATCATAGGTAACAAGTGTGTTTATCCCTGCAAAATTAAAAAGAAGGGCCATGTCAACCTCGAAGAGCCTCACTTAAACTATGAGTTATTTATATTTTTACTGAATCACTGATGTATGATCTTATCTGTCTGGGTCTCCATTCTCTTACCTATAAAATGAGAGAAACCTACCTTTAACAAATTCTAGATAATAAGATCACAGTGGATCTCCCTTAGTGAATCAGTGGAAAGAAAGAACTATGCAACAGCACGCAGATTGAAGGAAAAAATCCTGAGTTTTTTTTTTCCCCTTTGAGAACAAGAGGGTCATTTTCAACTCCTAACTTTTTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCCACCTCAGCTTACTGCAACCGCTGCCACCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGGGTGCCACCAAGCCCAGCTAATTTTAGTATTTTTAGTAGAGACGGGGTTTCAGCATCTTGGCCTGGCTGGCCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACATCCGGCCCTCCTATCTTTAACTCTTAGTACAATGAACACATTTTGGATGCTTTAAAAGAGATTCAAGGCTGGGCTCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTATTAAAGATACAAAATTGGCCGGGCGTGGTGGCACATGCCTGTAATTCCAGCTACTCTCGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGTGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCTAGCCTGGGCAATAAGAGAGAAACTCCATCTCAAACAAAACAAAACAAACAAACAAAAAAACCAAAATAAAAGAGATTCAACTGGAAAACAGCCTAAAAACAGCCAGAGAAATGCGTAGAGTTAATGAAGCCTAAATGAGGACATTAAGGAGATATTATAGAGAAACATTAGTACACAGACTCATAAACATTCAACCAGAAAATGATTGGGCATGATTACTTTCAGATCTGCACAAAATGACACATAATAAAATTTAAGATTCTCTTAATGGGAATACATAATTGTTCTTTTTATTACTTCTACTCCAGATTGTTCAGTAAGAATTCTATTGGTTGTAGCAAAAGGGAATCATTACATTTCTGCAGAGAAGTTTAAAGCACTTAGGTTTCTTGCTTTTATTACTTTAAAATATTTAAACAAAGGATACCAGTGAATACGATAGTCATTGAGATTGAATTTTTGGTATGAGATAAATTACCCTACACCTAATTCTATTTTTTCATGTTAAGTGTGCATCTGCAAATTTAGGAAAGACAAGTTCTAACTTACTTAGATACTTATTCATGGCAAAACAATGCAAAAATAACAAAAAACCCAAACCATCACCCAAAGGGGAAGGGAACCAAATGACTGCTTTGTGTAAATTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCCTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGTGCTATGTAAATTGTTTGAAATGTACAAAACTGTTACCTTTTGCTCATCTAGCCTTATTGCTATAGCAGTGGTTTTCAATTAAGGGTGACTTCATCCCTCAGGAGACACTGGGTAATGCCTAGAAACATTTTTGGTTGTCATGATACGAATG
Task1_train_21732
Assess the clinical impact of this variant on gene MAN2C1, NEIL1 (mannosidase alpha class 2C member 1| nei like DNA glycosylase 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital disorder of deglycosylation 2
GAGGAGGAAGGGGCGACAGGCAGCCTCTGGTGGGCTTTCCTCATCACTCCCAGAAACTGGCTCTACAGGAGAGGATGGGATGGTGGCCTAGGAGCGCGTGTACAAAGGTGGGAGAAAGGCTGCCATGGCAGCCCCTGGAGTCTTAGCTGACCATCTTGCCTGTTCTTCCCCCAGGCCACTGCAGACCCCGGAAGGTCAAGGCTGACATCCCATCCTTGGAACCAGAGGGGACCTCAGCCTCTTAGCAGGAGGCTCTCCTTGCTTGCACTCACCCTTTCTTATTGTCTTGCCCTGCATCTGGGGGTCTGAATTTTTGGGAGCAGGCAATATCTGAAGGTGCAAACAGGCCCTACGGCTGTTCCCTGCACAACTCTCATGGTTTTAATTGTACCCCATCTTCCACATCTTTAAAGCTCATGTGAAAAATGCTGCATTTTTAATAAACTGATACATTTGAACTTCTTGGCACCTCTTGGTCTGAGATGGCCAGGTAGGAAGGGCCTGCTGTCCGGTCCTGGTGACAGAAGGCCCAGCTCCTCACAAGGCAAACTGAGCCCCCATCCCAGTCCTCAAGGCTCTGACTCTATCAGAGGACAGTTTGCCTCTGCAAGGACAGCCCCTCAGAGGTGGTACAAAGACCCTGGCCCCAGGCAGCCCAGGAGCCAGAGCTCCTCCAGTCCAGATTCTCCAGGGTCCAGGGCTGCCCCCTCATCCTGGCAGGAGCCAGGCAAAACCCACCCTTCGGCCCCTCCCCAGCCCCAGGCCCAGGCCCTTTACCTGCTGGCACAGGGGAGGGGCTTCTCAACTCATGGTCTCTTCACTGGCTTTTGGTGGCTCGAGGTCCCCAGTCTCTCCTGTGGGGGCTGCAACCCAGACCCTGCACGCACAGGTACCTTAGGATCTTGCCCCTACCCACCAAATACCTGGGAAGCCATCCCACCCCAGACTTCCCACCCCCACCCCAAGCGTGAGGATGGGCCCTAAGGGGACTGAGCAGCAGGGTTCCCGATCCAAGGATTTATTCCACAAGAAAAGACTGATCCCTGCTTTAGGCTGGGGAAGCAGAAATTAGGAGTCCCCAGAGCCTTCTACAAACAAAACCCCAGCCCCAGGGACTCAGTGTGGCGGAGGCTGAAGCACGAGCAACAGGGACAGCACTTGGAAGGGAGAAAAGGTGAGCTTCAGGCGGTTGTCCCGAAGGGTCAAGTGGCCAGCAGGGTCTGGTCGCTCCAAGAGATCGCAGCTGGAGAACAGGAGGGGCCATGAAGGCTCTGCGAGGGCGAGACTCGACCCCCGCCCCAATCCCACACCGCCACTCACAGGATGGCCTCCTGAACCGGCAGCGACAAGTGCAGCCAGCAGTCCACGTGGCTGCCGTGGGCCTCATACAGCCTCAGGACCAGCGAGCGGCGCTGGGGGCTGCTCTCCGCCTGCAGAGGAACACGTCTGGTGGGAGGGGCCGAGGGCAGGCCCAGTTCGGAACCCCGTCCCCAGCACGTCCCACCCCTTGCCTGCTTGACGGTCTCCAATACGACCGCGGGTGAAGACACGGAAAACGCACTCCAGGAGGTGGCGGGCGCTGGGCTGGGGGCTGGCAGAGCCAACAGGGGGAAGTTTAGGCTGTAGGCAGCTTGGATAACGCCAGCATCCTGGAAAGAGCCTGGGGTACGACCAGGAAACAATGCTGGTGGAGAATGGGGGCTACCCTCCCCTGTCCCTAGAAGGGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGA
GAGGAGGAAGGGGCGACAGGCAGCCTCTGGTGGGCTTTCCTCATCACTCCCAGAAACTGGCTCTACAGGAGAGGATGGGATGGTGGCCTAGGAGCGCGTGTACAAAGGTGGGAGAAAGGCTGCCATGGCAGCCCCTGGAGTCTTAGCTGACCATCTTGCCTGTTCTTCCCCCAGGCCACTGCAGACCCCGGAAGGTCAAGGCTGACATCCCATCCTTGGAACCAGAGGGGACCTCAGCCTCTTAGCAGGAGGCTCTCCTTGCTTGCACTCACCCTTTCTTATTGTCTTGCCCTGCATCTGGGGGTCTGAATTTTTGGGAGCAGGCAATATCTGAAGGTGCAAACAGGCCCTACGGCTGTTCCCTGCACAACTCTCATGGTTTTAATTGTACCCCATCTTCCACATCTTTAAAGCTCATGTGAAAAATGCTGCATTTTTAATAAACTGATACATTTGAACTTCTTGGCACCTCTTGGTCTGAGATGGCCAGGTAGGAAGGGCCTGCTGTCCGGTCCTGGTGACAGAAGGCCCAGCTCCTCACAAGGCAAACTGAGCCCCCATCCCAGTCCTCAAGGCTCTGACTCTATCAGAGGACAGTTTGCCTCTGCAAGGACAGCCCCTCAGAGGTGGTACAAAGACCCTGGCCCCAGGCAGCCCAGGAGCCAGAGCTCCTCCAGTCCAGATTCTCCAGGGTCCAGGGCTGCCCCCTCATCCTGGCAGGAGCCAGGCAAAACCCACCCTTCGGCCCCTCCCCAGCCCCAGGCCCAGGCCCTTTACCTGCTGGCACAGGGGAGGGGCTTCTCAACTCATGGTCTCTTCACTGGCTTTTGGTGGCTCGAGGTCCCCAGTCTCTCCTGTGGGGGCTGCAACCCAGACCCTGCACGCACAGGTACCTTAGGATCTTGCCCCTACCCACCAAATACCTGGGAAGCCATCCCACCCCAGACTTCCCACCCCCACCCCAAGCGTGAGGATGGGCCCTAAGGGGACTGAGCAGCAGGGTTCCCGATCCAAGGATTTATTCCACAAGAAAAGACTGATCCCTGCTTTAGGCTGGGGAAGCAGAAATTAGGAGTCCCCAGAGCCTTCTACAAACAAAACCCCAGCCCCAGGGACTCAGTGTGGCGGAGGCTGAAGCACGAGCAACAGGGACAGCACTTGGAAGGGAGAAAAGGTGAGCTTCAGGCGGTTGTCCCGAAGGGTCAAGTGGCCAGCAGGGTCTGGTCGCTCCAAGAGATCGCAGCTGGAGAACAGGAGGGGCCATGAAGGCTCTGCGAGGGCGAGACTCGACCCCCGCCCCAATCCCACACCGCCACTCACAGGATGGCCTCCTGAACCGGCAGCGACAAGTGCAGCCAGCAGTCCACGTGGCTGCCGTGGGCCTCATACAGCCTCAGGACCAGCGAGCGGCGCTGGGGGCTGCTCTCCGCCTGCAGAGGAACACGTCTGGTGGGAGGGGCCGAGGGCAGGCCCAGTTCGGAACCCCGTCCCCAGCACGTCCCACCCCTTGCCTGCTTGACGGTCTCCAATACGACCGCGGGTGAAGACACGGAAAACGCACTCCAGGAGGTGGCGGGCGCTGGGCTGGGGGCTGGCAGAGCCAACAGGGGGAAGTTTAGGCTGTAGGCAGCTTGGATAACGCCAGCATCCTGGAAAGAGCCTGGGGTACGACCAGGAAACAATGCTGGTGGAGAATGGGGGCTACCCTCCCCTGTCCCTAGAAGGGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGGAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGA
Task1_train_21733
The gene MAN2C1 (mannosidase alpha class 2C member 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Congenital disorder of deglycosylation 2
GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCTGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
Task1_train_21734
This sequence variant lies in MAN2C1 (mannosidase alpha class 2C member 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not specified
GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCTGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
Task1_train_21735
A change on Chromosome 15 affects gene ETFA (electron transfer flavoprotein subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCAACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCCAGCCTGAATTTCTTGTAGACATATTTTTGGTTAAGAAGGTTGTGGGTCTGCTGATCTTTTATGAAATCAGACCTACAGATGTCTACTTATGTAAAATTGAAAGATTTCCACAAATAATGTGTGTGCCAGTCAGGCATGGTGGCACATACCTGCAGTCCCAGCCACTCAAGAGGCTGAAGTGGCAGGATTAATTGAGGCTAGGAGTTAGAGGCTGTGGTGTGTTATGATCATGCCTGTGACCAACCCCTGCACTCCAGCCCAGGTAACATAGCAAGACCCTGTCTCTTAAAATATATACATATATATATATATATATGCGCATGTGTGCTAGAGCTCATTAAATGTCAAGGAAGGCTCAAGCTCATCTGCTCAATAAATCCACTCTCACAGCCTAATTCGGTATGACAAGCAAACAGGCCACATGATGATGTGACTTAATTTATGAATAGTTCTAATATGTATTTTAAGCTTTAAATCTTCTTTTCTGACTTCTTTTCTGACTTCAAGTAAGTTGAGTAACACAAAACGTATTAAGCATAAGAAGAAAGACTGGTGCATTAGGTTATCAAAATTAGAAATCTCTACTCATCAAAAGAAAATGAATAGGAAGTCCTAGCATGGGAAAAATACAACACACATCTGACAAAGAATTTGTATGTAGGTTATATAAAAAACTCCTACAAAGAGAAAAGAAAAAGAAAAAGAACTCAAGTTTTCAACAGGCAAAAGACTTGAACAAATACTTCGAAACAAACTTCAGGCCGGGTGCGGTGGCTCACGCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCATGAGTTCAAGACCAGCCTGGCCAAGATGATGAAACCCCATCTCTACTAAAAATACAAAAAAATTACCTAGGCATGGTGGTGGGCGCCTGTAATCCCAGCCACTTGGGAGGCTGAGGCAGAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTACACCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCATCTCAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACTTCAAAAATAAAAAATAAGCCTTGAAAATGTTGACTACAGCATCTTAAAACTGTGAATGAATATCTCATAGAATAGAGCACTGGGATGTAAGATTTTTTTTTAATGGACAAGACTGCATATTGTTTTGAAATATATAAAAAACATGTTTTCCTGCATACTATACAAGTTTAAACTGGCTGAGACTCCTATTCACTGAAAATCTGTATCACCTAAGAAATATAAACAGTCATTATCAACTGTGATTCAACTTTGAGACCAAAATTTCCTGCTCTTCCAAGTTTTAGACAGGCTTAACTGAAGAATATTCTAGTATCACTTATCTATGTAGAACAGAATTTTCTGAAATTGATACTATAAGACAAAATACAGAAACTAGGTGTTCAGGAAGATATAAGACTAAAACTGTCATTCACAGCTCCCAATTTCAAAATTCTGTTCATTAAAATAGGTTCATTGTTCTCATTGATTTTATACTCTCTAAAGGCTTTATGGAAATAAATCTTATCAATGTGAACTTATAAATCTGAGTTGATAAAATGCTGCTTTTATCAATGTTTTATTTGATGTAATATGACTTAATTTGATAAAATGTTCCACTGCTTTAAAATACTTGAATAATAAGCTGGATTTAAGAACTGCTGGGCATTTTACTAGGATCAAGAACTACACAGACCTTGTGAAAATGACATATTCACCATGGTACTGGCTAACTGCTCAGGAACACTGAGTAAGGTAAATCACTGAGATCACTGTTCAACAAATACATACAGTACTTATCCCCATAACATTTTACACAGCATATTTTATTGCAATACTTACTGGTGCTACTATTTTTCCCGTCTGTCCAACTTGCATGTCATTGGGAACAAAGCCAGCATCAACAGCAGCACGGGAAGCACCAACTAAGGGGAAAAAATATTTGTCATTTTTTTCAAGCTCTATTATTCAGCTAGTTAGGATATTCACTGATAACTGTAAACAAAGACATTGATTTAGAATTCTAAGTACTAGTATATTTTATACAGAAAGCTTCAAGGAATAACTTCTTTTTATACCCAAGTATTTCAGATTTTAATTTGGGCTTAACTCTTCTGCATGCTTTATCAAAATGGCAGTCATAAAATTTACACTATAATGTTTAGAATGTCATTATATAATGCTCCTTTAAGTAATAACTTCACAAGTTTTGAAGAAAGGTTTTACAATATTACCTCTTGTAATACTATAAAGAGAAGATACTGGACAAAGAGTTTCATATAACAAGATGAAGGTTTAACCAGTATTTGCTATCAAATTCACAAATAAAATTTAACAGACTTTCTATTCTCATTCAACAGGAGTCAACAATGAGCCCTATACTTGGAGTAAAACAACCCCTTCCCCAGCAGGAGTCAAGAATGAGCCTCAGGCCTCTTCATCTCAAGCTGAAAAGGACAGAGGGAGCCATAGACAATACAACTAACAACCTCCAAAAACGCACAGCCTCACCACCACTATCTTGAGTCAGCCAGGACTAATCACACCCTGCCCTTCATTATGTCTGTCCCCATAAGCCCCAAACTCAAAGGTTATCCTTCATAACCCATACACTGATCCCCATAATGCTCTGCATGCTCCCTAACCTGCACCAATCTCCCATATTCCTAACCCTTACACTGTGATTTCTGGAATATGGAGCCCAATATCAGCGAAACTTAAGTTATATTAAGTTTTATTAAAATGTAAGTTTTAGAACTTAAAACTTTAAGTGTATTAAAACTCAGGTTTTATTTACCTAATAAAACTTAACTTTAAATTGGCTCCATCTGAAATTAATATAGCTACTCCTGCTTTCTTTCAATTAGCATCACCATGGTATATCTTTCTCCACTCATTTACTTTATATGTATATGTATTTTTATATTTAAAGTGGGTTTCTTGTAGACACCATATAGTTGGGTCTTACTTTTTCATCCACTATGACAATCTTTATCTTTAATTGGTGCATTTACACTACTGATGTTGAAAGTAATAACTGACACAGTTGGATTAATATCTACCATATTTGTAACGGTTTTCTATTTGTTGCCCTTGTTCTTTTTTCCTATTTTTGTCTTCCACCAACTGAGCATTTTAAATAATTTCATTTTGTCTCTTTTCTTAGCTATTAGTTGTATTTTTGTTTTACTTTAGTGCTGGTCCTAGAGTTTGCAATATTCATTTACAGCTAATCCAAGTCCACTTTCAAATAACACTTTACTACTTCACAGGTGGTGCAAGTACCACTTAATAGCAAGATAATCCTAATTCCTATCTCCTGTTTCTTACATTGTGATTCATTTCACTTATACATGAGCACATAAGTAATTGTAATACATGAGCATATGTAATTGAATACAATGTTATTATTTTAAACTGTTACCTATTAGATCAATTAAGAAAAATAAAACTTATTTTACCTTCACTCATTCCCTCTTCAATGCTCTCACTTGCTTTATATACACCAGAGTTTTTGACCTCTATCATTTCCTTCTCTCTAAAAGAACTTTTAACATTTCTTGCAAGGTAAGTCTATGACATATTCTGCCAATTTTTGTCTGAGAAAGTCTTTATTTCTCTTCCATTTTTAAAGGATAATTTCACAGGGTATAAAATCCTACATTGGTGAGTGTTTTCTCTCAGCACTTTAAACATTTTACTACACTCTCTTCTGCTTGCATGGTTTCTGAAAAGAGATCAGATCTAATTATTATCTTTGCTCTTGTACAGGTATGGTGGATTTTTTCCTCTGGCTTCAGTATTTGTTATTTTTTATTTCCTGTAGTTTGCAAATGATAGGCCTAGTTGAAGTTCTTCTGGCATTTCTCATATTTGGTGTTCTCTCAGCTTCCTAGATCTGTGGATTGG
GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCAACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCCAGCCTGAATTTCTTGTAGACATATTTTTGGTTAAGAAGGTTGTGGGTCTGCTGATCTTTTATGAAATCAGACCTACAGATGTCTACTTATGTAAAATTGAAAGATTTCCACAAATAATGTGTGTGCCAGTCAGGCATGGTGGCACATACCTGCAGTCCCAGCCACTCAAGAGGCTGAAGTGGCAGGATTAATTGAGGCTAGGAGTTAGAGGCTGTGGTGTGTTATGATCATGCCTGTGACCAACCCCTGCACTCCAGCCCAGGTAACATAGCAAGACCCTGTCTCTTAAAATATATACATATATATATATATATATGCGCATGTGTGCTAGAGCTCATTAAATGTCAAGGAAGGCTCAAGCTCATCTGCTCAATAAATCCACTCTCACAGCCTAATTCGGTATGACAAGCAAACAGGCCACATGATGATGTGACTTAATTTATGAATAGTTCTAATATGTATTTTAAGCTTTAAATCTTCTTTTCTGACTTCTTTTCTGACTTCAAGTAAGTTGAGTAACACAAAACGTATTAAGCATAAGAAGAAAGACTGGTGCATTAGGTTATCAAAATTAGAAATCTCTACTCATCAAAAGAAAATGAATAGGAAGTCCTAGCATGGGAAAAATACAACACACATCTGACAAAGAATTTGTATGTAGGTTATATAAAAAACTCCTACAAAGAGAAAAGAAAAAGAAAAAGAACTCAAGTTTTCAACAGGCAAAAGACTTGAACAAATACTTCGAAACAAACTTCAGGCCGGGTGCGGTGGCTCACGCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCATGAGTTCAAGACCAGCCTGGCCAAGATGATGAAACCCCATCTCTACTAAAAATACAAAAAAATTACCTAGGCATGGTGGTGGGCGCCTGTAATCCCAGCCACTTGGGAGGCTGAGGCAGAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTACACCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCATCTCAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACTTCAAAAATAAAAAATAAGCCTTGAAAATGTTGACTACAGCATCTTAAAACTGTGAATGAATATCTCATAGAATAGAGCACTGGGATGTAAGATTTTTTTTTAATGGACAAGACTGCATATTGTTTTGAAATATATAAAAAACATGTTTTCCTGCATACTATACAAGTTTAAACTGGCTGAGACTCCTATTCACTGAAAATCTGTATCACCTAAGAAATATAAACAGTCATTATCAACTGTGATTCAACTTTGAGACCAAAATTTCCTGCTCTTCCAAGTTTTAGACAGGCTTAACTGAAGAATATTCTAGTATCACTTATCTATGTAGAACAGAATTTTCTGAAATTGATACTATAAGACAAAATACAGAAACTAGGTGTTCAGGAAGATATAAGACTAAAACTGTCATTCACAGCTCCCAATTTCAAAATTCTGTTCATTAAAATAGGTTCATTGTTCTCATTGATTTTATACTCTCTAAAGGCTTTATGGAAATAAATCTTATCAATGTGAACTTATAAATCTGAGTTGATAAAATGCTGCTTTTATCAATGTTTTATTTGATGTAATATGACTTAATTTGATAAAATGTTCCACTGCTTTAAAATACTTGAATAATAAGCTGGATTTAAGAACTGCTGGGCATTTTACTAGGATCAAGAACTACACAGACCTTGTGAAAATGACATATTCACCATGGTACTGGCTAACTGCTCAGGAACACTGAGTAAGGTAAATCACTGAGATCACTGTTCAACAAATACATACAGTACTTATCCCCATAACATTTTACACAGCATATTTTATTGCAATACTTACTGGTGCTACTATTTTTCCCATCTGTCCAACTTGCATGTCATTGGGAACAAAGCCAGCATCAACAGCAGCACGGGAAGCACCAACTAAGGGGAAAAAATATTTGTCATTTTTTTCAAGCTCTATTATTCAGCTAGTTAGGATATTCACTGATAACTGTAAACAAAGACATTGATTTAGAATTCTAAGTACTAGTATATTTTATACAGAAAGCTTCAAGGAATAACTTCTTTTTATACCCAAGTATTTCAGATTTTAATTTGGGCTTAACTCTTCTGCATGCTTTATCAAAATGGCAGTCATAAAATTTACACTATAATGTTTAGAATGTCATTATATAATGCTCCTTTAAGTAATAACTTCACAAGTTTTGAAGAAAGGTTTTACAATATTACCTCTTGTAATACTATAAAGAGAAGATACTGGACAAAGAGTTTCATATAACAAGATGAAGGTTTAACCAGTATTTGCTATCAAATTCACAAATAAAATTTAACAGACTTTCTATTCTCATTCAACAGGAGTCAACAATGAGCCCTATACTTGGAGTAAAACAACCCCTTCCCCAGCAGGAGTCAAGAATGAGCCTCAGGCCTCTTCATCTCAAGCTGAAAAGGACAGAGGGAGCCATAGACAATACAACTAACAACCTCCAAAAACGCACAGCCTCACCACCACTATCTTGAGTCAGCCAGGACTAATCACACCCTGCCCTTCATTATGTCTGTCCCCATAAGCCCCAAACTCAAAGGTTATCCTTCATAACCCATACACTGATCCCCATAATGCTCTGCATGCTCCCTAACCTGCACCAATCTCCCATATTCCTAACCCTTACACTGTGATTTCTGGAATATGGAGCCCAATATCAGCGAAACTTAAGTTATATTAAGTTTTATTAAAATGTAAGTTTTAGAACTTAAAACTTTAAGTGTATTAAAACTCAGGTTTTATTTACCTAATAAAACTTAACTTTAAATTGGCTCCATCTGAAATTAATATAGCTACTCCTGCTTTCTTTCAATTAGCATCACCATGGTATATCTTTCTCCACTCATTTACTTTATATGTATATGTATTTTTATATTTAAAGTGGGTTTCTTGTAGACACCATATAGTTGGGTCTTACTTTTTCATCCACTATGACAATCTTTATCTTTAATTGGTGCATTTACACTACTGATGTTGAAAGTAATAACTGACACAGTTGGATTAATATCTACCATATTTGTAACGGTTTTCTATTTGTTGCCCTTGTTCTTTTTTCCTATTTTTGTCTTCCACCAACTGAGCATTTTAAATAATTTCATTTTGTCTCTTTTCTTAGCTATTAGTTGTATTTTTGTTTTACTTTAGTGCTGGTCCTAGAGTTTGCAATATTCATTTACAGCTAATCCAAGTCCACTTTCAAATAACACTTTACTACTTCACAGGTGGTGCAAGTACCACTTAATAGCAAGATAATCCTAATTCCTATCTCCTGTTTCTTACATTGTGATTCATTTCACTTATACATGAGCACATAAGTAATTGTAATACATGAGCATATGTAATTGAATACAATGTTATTATTTTAAACTGTTACCTATTAGATCAATTAAGAAAAATAAAACTTATTTTACCTTCACTCATTCCCTCTTCAATGCTCTCACTTGCTTTATATACACCAGAGTTTTTGACCTCTATCATTTCCTTCTCTCTAAAAGAACTTTTAACATTTCTTGCAAGGTAAGTCTATGACATATTCTGCCAATTTTTGTCTGAGAAAGTCTTTATTTCTCTTCCATTTTTAAAGGATAATTTCACAGGGTATAAAATCCTACATTGGTGAGTGTTTTCTCTCAGCACTTTAAACATTTTACTACACTCTCTTCTGCTTGCATGGTTTCTGAAAAGAGATCAGATCTAATTATTATCTTTGCTCTTGTACAGGTATGGTGGATTTTTTCCTCTGGCTTCAGTATTTGTTATTTTTTATTTCCTGTAGTTTGCAAATGATAGGCCTAGTTGAAGTTCTTCTGGCATTTCTCATATTTGGTGTTCTCTCAGCTTCCTAGATCTGTGGATTGG
Task1_train_21736
Here is a variant affecting ETFA (electron transfer flavoprotein subunit alpha) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
AGGCTGGAGTGCAGCAGTGTAATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGAATGTACAATTGTTAACAGCTATACTTCTAAAGAGGGGAGGGTGAGTTGGGAATAAGAAAGCAGGACTTTGACACCTTGCTCTGCACACTGCTGTACTACACGCAGTCTTCCTAATAAGGATGTATTTGTGTACAACTTATTTTACAATTTTTAAAAGTGAAAATAGGCTAAGCACAGTGACTTATGTCTGTAATCCTAGCACTTTGGGAGGCTGAAATGAGAGGATGACTTGAGGCCAGGAGTTTAAGACAAGCCCGCACAACATAGGGAGACTACATCGATACAAAAAATTTGAAAATTAGCTGGGCATGGTGGCATGTACCTGTAGTCCTAGCTACTCAGAAGGCTAGGATAGGAGGATCGTTTGAGCCCACAAGTTGGAGGGTATGTTGAGCTACAATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGCTAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACACGGCGAAACCCTGTCTCTACTAAACATACAAAAATTAGCCAGGTGTGGTGGCACGCACCTATAATCCCAGCTACACACGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGTGCTGCTGCACTCCAGCCTGGGCGAGGAAAGTAAGACTCCATCTCGAAAAAAAAAAAAAAAAAAAGTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGGGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGCTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGGGGCGGAGCCTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAACCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAGAAAGTAAAAATAAAGACTAAAAATGACACCTTATTAAGAATGGAACAAAAGAAAAGAGAGCTAAGATAACACCCACGGCCACAGAGAGAGAGCAAGAAAAATCCACTGACGAATTCCTTGTCTTAAGCTCCCATTACACTCCTCCCTCCATTTTTAACTTTATGTAGACTGCTATCCATCTTATAACACACTCATTCTTCAGACACATCACAATGCACATGATCAGATTACAGCTTTCTTTACCTTAAGGATGTCTTCAACCACCACAAGCCCTTTCCAAATTCCCTACGTAGATAAAATTTGGCTTTTCTAGATATCCATCAGCCATCCAAATAAACCATCTCTTAAAATGGGCTACTAATAGAAATGACTCTTGCTCGTTCACTCTCTCTCTCACATGCAAGCAGAATTCAGCATTACTTTTACATGCAGAAAATTTTAAAATAATAGCCTAATTAGAGTTTTCTCCACAACATAATTTGAAAACCTGGAAATGGTAGTTTTAACGGAAAATTATGACAAAATCTTGAAAGAATAAATTTTAGCAAAACTACCACATCAATTCAGATAAATCCAGATTGGCTACATAAACAGTCTGTTGCATACTTTCAGCACAATGAAATCTAACCCTTTCAAGCAGTGATATCAGATTCCACATTCTCAACCTTCTCACCTTTCCGAAGGCAGATGCTCCAGCACAGATGTGTGTGTAATTGAACTGCTTCTGAGTTGCCAAAATCAATGGTGTCAGTTCCTCTGAGAATTAAACACATTTGATAAAAAAATATTTTGAAATACTTTCATATTCATATATTCAAGCGTAATTTAGACACTACATTTTTTTCTACTGGAAAACCTCACCTGGAAGTAGGCCTTTGTACACATCATGCTGAGCCACCAGAACTTTTGCTATGCCTGCTACTTTACAGAGATCTTGTGCCACCTATGATTAAAAGATAAGTTCCTAATTATCCATCTATCAGAAATATACAAATAAAGCCACCACTATAAATATCAACAGATCATAAAATCTTAATGGCCAACTGTAAAAATTATTCTTATTAGCAAAAGGGCCAGTTAAGAATTAAAATATATTCCGGCCGGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTCTGAGAGGCTGAGGCAGGCAGATCACCGGAGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAAGAGAATGGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATCACACCACTTCACTCCAGACTGGGCGAAAGAGTGAAACTCCATCTCAAACAAACAAAGAATTAAAATATTAAAATACATTCCTTAACAAAGAAAATCTAATGCCAATAGATCTTACTACTGACTGACCTTACACTGTCCAACTACCAAGCATTTCAACAAAAATTCCTGCCTTGAAAAAGAAAAGTGCTAATTGACAAACCAAAATCAACATGGCTCTTTATTCAAATTTTGTTATAAATTGTGCTTTTTACTTTTGGTTCAATCCAAGTGTAAGTTCAATGTCCTGGAAATGGTGAAAATGAAGTTCTCTAGTAACATCCCATTGTCAACCACTGAGTTCCTGCCCACATACACATATTTATCTATGACAAAGCAAAATATTTCCTATTTTAATTCTTCATTTTTCCTGTTTGGAATTAGAATGGGGTTCTGAGAAAGCTTTTTGATGATTCAGATTTTCTATATTCAGAAGGCAATTAGATTTCCCCTTTTTAAGTATCTTTATTACCTCATGGCTGGTTTCCACTTTAGCTAAGTCATATCAGTCATACTATCGTCTTCTGTCTCCTTGTTTACCTCCAAACTGATTCATTGATTCACTGATGAGTAGGATTAAAAGGCTGTGCCTTGTGCCACCCTCATATGAACTGTTAGCTTGCAACAATATTCACTGAAGAAAGGATGCAGTGCAAGAATACATTCTCTGCTAAACCAAGTGTTCACCGGCATACCATTTGTACTACAGAGGCCCTTTATTATGGATGCAGCTGCATTTAGCTTCTCAAACTTTAAGAGAATTTCCAATTAAGAAACTCAGTTAATTGCAATGTAGCTGCATAGCAGCATGGGATAGAAAATGGGGCAGAATTTTCCCATTGAAACTATCTTGTTTTTACTGGCAAAACGGCTGGCATTATACAGAAGAATAACTTGCTGTTTATGACAAGTAGCTGAATAAAATGGTATAAAACCGAACTCTATTAAACGATCTCTTCATACAGGTACTGGTTGTTTTCTTTAAAATTAGAACATGACAGGTTAGGATTGTAACTGAGTACAGAAGACGATTTCTATTTTGATTTTTCTCAAAGTAGTATAAAGTATCAAAGTCTTTTTAAAGTAATATTACAATAATTATTTTAAATCACAGCAAAACAAACAACAAATCACAAATTCCTATATATCCAAAAACAGGGAAACCAAAAAGATAGCTTAGCCATCATATACTGTGGCTAATACAGACATACAAATAGATAGCTTAGCCATCACACATCACACATTGTGGCTGTATCAACTATGTAAGATCCTACAGTTGTTAGCAGGAATTGGGTAAAGAAATCCACATAACTAATCATAAACCCACCAGAATATGTTCTTTTATCAATTTCATGT
AGGCTGGAGTGCAGCAGTGTAATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGAATGTACAATTGTTAACAGCTATACTTCTAAAGAGGGGAGGGTGAGTTGGGAATAAGAAAGCAGGACTTTGACACCTTGCTCTGCACACTGCTGTACTACACGCAGTCTTCCTAATAAGGATGTATTTGTGTACAACTTATTTTACAATTTTTAAAAGTGAAAATAGGCTAAGCACAGTGACTTATGTCTGTAATCCTAGCACTTTGGGAGGCTGAAATGAGAGGATGACTTGAGGCCAGGAGTTTAAGACAAGCCCGCACAACATAGGGAGACTACATCGATACAAAAAATTTGAAAATTAGCTGGGCATGGTGGCATGTACCTGTAGTCCTAGCTACTCAGAAGGCTAGGATAGGAGGATCGTTTGAGCCCACAAGTTGGAGGGTATGTTGAGCTACAATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGCTAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACACGGCGAAACCCTGTCTCTACTAAACATACAAAAATTAGCCAGGTGTGGTGGCACGCACCTATAATCCCAGCTACACACGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGTGCTGCTGCACTCCAGCCTGGGCGAGGAAAGTAAGACTCCATCTCGAAAAAAAAAAAAAAAAAAAGTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGGGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGCTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGGGGCGGAGCCTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAACCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAGAAAGTAAAAATAAAGACTAAAAATGACACCTTATTAAGAATGGAACAAAAGAAAAGAGAGCTAAGATAACACCCACGGCCACAGAGAGAGAGCAAGAAAAATCCACTGACGAATTCCTTGTCTTAAGCTCCCATTACACTCCTCCCTCCATTTTTAACTTTATGTAGACTGCTATCCATCTTATAACACACTCATTCTTCAGACACATCACAATGCACATGATCAGATTACAGCTTTCTTTACCTTAAGGATGTCTTCAACCACCACAAGCCCTTTCCAAATTCCCTACGTAGATAAAATTTGGCTTTTCTAGATATCCATCAGCCATCCAAATAAACCATCTCTTAAAATGGGCTACTAATAGAAATGACTCTTGCTCGTTCACTCTCTCTCTCACATGCAAGCAGAATTCAGCATTACTTTTACATGCAGAAAATTTTAAAATAATAGCCTAATTAGAGTTTTCTCCACAACATAATTTGAAAACCTGGAAATGGTAGTTTTAACGGAAAATTATGACAAAATCTTGAAAGAATAAATTTTAGCAAAACTACCACATCAATTCAGATAAATCCAGATTGGCTACATAAACAGTCTGTTGCATACTTTCAGCACAATGAAATCTAACCCTTTCAAGCAGTGATATCAGATTCCACATTCTCAACCTTCTCACCTTTCTGAAGGCAGATGCTCCAGCACAGATGTGTGTGTAATTGAACTGCTTCTGAGTTGCCAAAATCAATGGTGTCAGTTCCTCTGAGAATTAAACACATTTGATAAAAAAATATTTTGAAATACTTTCATATTCATATATTCAAGCGTAATTTAGACACTACATTTTTTTCTACTGGAAAACCTCACCTGGAAGTAGGCCTTTGTACACATCATGCTGAGCCACCAGAACTTTTGCTATGCCTGCTACTTTACAGAGATCTTGTGCCACCTATGATTAAAAGATAAGTTCCTAATTATCCATCTATCAGAAATATACAAATAAAGCCACCACTATAAATATCAACAGATCATAAAATCTTAATGGCCAACTGTAAAAATTATTCTTATTAGCAAAAGGGCCAGTTAAGAATTAAAATATATTCCGGCCGGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTCTGAGAGGCTGAGGCAGGCAGATCACCGGAGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAAGAGAATGGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATCACACCACTTCACTCCAGACTGGGCGAAAGAGTGAAACTCCATCTCAAACAAACAAAGAATTAAAATATTAAAATACATTCCTTAACAAAGAAAATCTAATGCCAATAGATCTTACTACTGACTGACCTTACACTGTCCAACTACCAAGCATTTCAACAAAAATTCCTGCCTTGAAAAAGAAAAGTGCTAATTGACAAACCAAAATCAACATGGCTCTTTATTCAAATTTTGTTATAAATTGTGCTTTTTACTTTTGGTTCAATCCAAGTGTAAGTTCAATGTCCTGGAAATGGTGAAAATGAAGTTCTCTAGTAACATCCCATTGTCAACCACTGAGTTCCTGCCCACATACACATATTTATCTATGACAAAGCAAAATATTTCCTATTTTAATTCTTCATTTTTCCTGTTTGGAATTAGAATGGGGTTCTGAGAAAGCTTTTTGATGATTCAGATTTTCTATATTCAGAAGGCAATTAGATTTCCCCTTTTTAAGTATCTTTATTACCTCATGGCTGGTTTCCACTTTAGCTAAGTCATATCAGTCATACTATCGTCTTCTGTCTCCTTGTTTACCTCCAAACTGATTCATTGATTCACTGATGAGTAGGATTAAAAGGCTGTGCCTTGTGCCACCCTCATATGAACTGTTAGCTTGCAACAATATTCACTGAAGAAAGGATGCAGTGCAAGAATACATTCTCTGCTAAACCAAGTGTTCACCGGCATACCATTTGTACTACAGAGGCCCTTTATTATGGATGCAGCTGCATTTAGCTTCTCAAACTTTAAGAGAATTTCCAATTAAGAAACTCAGTTAATTGCAATGTAGCTGCATAGCAGCATGGGATAGAAAATGGGGCAGAATTTTCCCATTGAAACTATCTTGTTTTTACTGGCAAAACGGCTGGCATTATACAGAAGAATAACTTGCTGTTTATGACAAGTAGCTGAATAAAATGGTATAAAACCGAACTCTATTAAACGATCTCTTCATACAGGTACTGGTTGTTTTCTTTAAAATTAGAACATGACAGGTTAGGATTGTAACTGAGTACAGAAGACGATTTCTATTTTGATTTTTCTCAAAGTAGTATAAAGTATCAAAGTCTTTTTAAAGTAATATTACAATAATTATTTTAAATCACAGCAAAACAAACAACAAATCACAAATTCCTATATATCCAAAAACAGGGAAACCAAAAAGATAGCTTAGCCATCATATACTGTGGCTAATACAGACATACAAATAGATAGCTTAGCCATCACACATCACACATTGTGGCTGTATCAACTATGTAAGATCCTACAGTTGTTAGCAGGAATTGGGTAAAGAAATCCACATAACTAATCATAAACCCACCAGAATATGTTCTTTTATCAATTTCATGT
Task1_train_21737
This alteration in PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; PSTPIP1-related disorder
GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACACCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
Task1_train_21738
The variant affects gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACACCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
Task1_train_21739
Chromosome 15 houses a mutation in gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
TGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGT
TGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACCAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGT
Task1_train_21740
A mutation found in PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Behcet disease
CTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGTGTCAGGCCCTCCCATGTGCTGGGTCCACGCATGTCCACCCTGCGCATGTGTGTGCACTCCTGGGGCCTTGGCCCTCGGCGCCTCATGTGGGAAAGGCCCCCCACATGCCACCTTGAATTGCAGGGCTGCCCCCCACAGGCCCCTGAGTCATGGCTCAGCCCCTCACCTGCATTCAAGATCCCTCAGGGTCTGGTCCAGTCTCTATTTCAGTCCTGTCCCCCACACACCCAAATTGGTCCACTCCACTCCACAAACCCCACCTGTGCCATGCCTCCTCCCCTGCACCTGAGCCCTCCCTCTCCTGGTCACCTGCAGTGCCTCGCTCCCCCTTCTCTCCTAGTAAAGCTTCACTCATCTTTGAAGACTCAGCCCCACCCCACTAAGAAGCCCTCTTGCCTTGGAGGCAGTGTCAGCCTCTACTTGTTGAGCCCTCACTACTGCCCACTTCAGGGGGTGCCCCCAGCATCTGCCGCATCTGCCTCTTCTGTTTTATTTTCCTTTATTCAGTAAACCTTCATGACCCCAGCTCAGTCCAGGCCTAAGCCTGGTGCAGGGGCAGGGGTAAAGTAGCCCAGCGCTGTCCC
CTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACCATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGTGTCAGGCCCTCCCATGTGCTGGGTCCACGCATGTCCACCCTGCGCATGTGTGTGCACTCCTGGGGCCTTGGCCCTCGGCGCCTCATGTGGGAAAGGCCCCCCACATGCCACCTTGAATTGCAGGGCTGCCCCCCACAGGCCCCTGAGTCATGGCTCAGCCCCTCACCTGCATTCAAGATCCCTCAGGGTCTGGTCCAGTCTCTATTTCAGTCCTGTCCCCCACACACCCAAATTGGTCCACTCCACTCCACAAACCCCACCTGTGCCATGCCTCCTCCCCTGCACCTGAGCCCTCCCTCTCCTGGTCACCTGCAGTGCCTCGCTCCCCCTTCTCTCCTAGTAAAGCTTCACTCATCTTTGAAGACTCAGCCCCACCCCACTAAGAAGCCCTCTTGCCTTGGAGGCAGTGTCAGCCTCTACTTGTTGAGCCCTCACTACTGCCCACTTCAGGGGGTGCCCCCAGCATCTGCCGCATCTGCCTCTTCTGTTTTATTTTCCTTTATTCAGTAAACCTTCATGACCCCAGCTCAGTCCAGGCCTAAGCCTGGTGCAGGGGCAGGGGTAAAGTAGCCCAGCGCTGTCCC
Task1_train_21741
A change on Chromosome 15 affects gene LINGO1 (leucine rich repeat and Ig domain containing 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Intellectual disability, autosomal recessive 64
GTGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCT
GTGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGTGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCT
Task1_train_21742
Consider a variant on Chromosome 15 in gene LINGO1 (leucine rich repeat and Ig domain containing 1). Determine its clinical classification and disease relevance.
Pathogenic; Intellectual disability, autosomal recessive 64
TGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTG
TGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCAGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTG
Task1_train_21743
A sequence alteration has been identified in LINGO1 (leucine rich repeat and Ig domain containing 1) on Chromosome 15. Is it disease-inducing or harmless?
Pathogenic; Intellectual disability, autosomal recessive 64
TAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTGAAGCC
TAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGACAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTGAAGCC
Task1_train_21744
The variant affects gene CIB2 (calcium and integrin binding family member 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 48
CTGAGCACTTACCGAATGTGTGGCAGGCTGTGTGCTAGCACAGACACCTTTCTAACTGGCCAAGTGACATCATGCAATTGCTACCGAGAACAAAACCAGTTCCCCTCCTTGCGGCCCCATCAGCGAAAAGGAGGGGAGGGCCAGAAGCCACATCCTCTGCTTCAGGCCTCTTCGCTCCAGCTGTACCCTCAGGTCAGGCTGGCTCTTCCTGGAACTCTGTCCCTCAGGAAACTTCCTGTTTTGTGTGTCACTTCCCTTCCTATCCACATGTCCCCTTCTCTATAAGGGTGGACAGCTGGCTTGCTACCCCACTCCCAACAACCCCCAGGCCTGGGATGCAGAAAACAGGACTGATCATCTCCAGAGAGAACACCATACGTGCCCCTCCTCCCTGCCCTGACCCTGGGCAGAGCGGGCTCAGGTTGCATTTGTGGGAAATCTACTCTTAGTGACCACTTGGCTATGCAGCTTTTCCTGAAATATAGGCCTGTAAGAGTCCCTCCCTCCTTGGGGGTTTAAGGATTGAGACTGAAGCAACTGTCCCTGTGCCTGAGTGGTTAGCACTCCCAAATGTTAACCAGAGATACTGTCAGGGAATTCACGGAAGGTTCGGGGCATGAATGTGTTTTCCTCCCGATGGCACACGCACTGAAATCAAAGTTAGTGCCTAAAGCAGGAGGCACTGCCTAATGCCGAGAGGTGAGACACCAATGGTGGGATTTCAAGGATCAGAAGCAAAGGTACCCTCAAACATTTCCTAACATTAGCATACATGGAGAGCAAAGGGATGCAAAAGTGTTTTACTACCAGGAGTTCACAAATCTGTGGACAGCACACCAGTGAGGATTCCACGGTGTTGGGGAGGCAGGCAGGGTGGTACTCATGACCCAGAGGCAGAGACAGGAGCAAGAGCCCTTGGGCCCACTGCACCCACAGCTTCACATTGTGAAGGAGGCCGGGAGAAGGGGAACAGGCAGGGGTGGGAAGCAGCCCAACCTTGGGTTTTGGAAAAAGATTGCATAGCTCGTTAAAACCCTGACCTCTTTTTTTTTTTTCCGCTCTGTCCTGGGTGACCAGGGTGTCTGCCAGCACTTGGACACGTCAGACCCCACCACCTCCTGTTGGGTTATCTGCTTTTCCCTCTTTGGGGGGGTGGGGAGCATTTCTGGAGTAGGAAAGGACTGGGGCATGGGGCGGGGTGCGGAGGGCCTGGAGAGAGGCCATGGGTCCCGGGGCTGGACCACAGCGGGGCTGTGGGAAGGGTCCTAACCTTCACAGGCCCCCTTCCTGGTTAAGGTTTTTTTTTTGCTGAAAGGGCCACAGGATATATTTGTGGTGTAAACCCCAGAGGCTGCCACTGCTTTCCTGGGGAGCTTGGAGGCCACACCCATGTGACTGCAGGGCAGGATGGTGGACTTCTAGGCCCCTACAGCCTCGGCAGTGTCCTCAGATCCGGATGTGGAAAGTGCTAGAAAGAGAGAAAGGGCAAGAGAGGGTGAGAGGCCCTGGGTCGGGCAGGTAAAGGCTCCTCAGGGAAAAGCACAGCAGGCCCCAGCCCCATGCTGGACAGTGCCTCATTAGGGAACCCTGCATAGTGGATGCAGGTAATCAACACTGGGGGAAGACGGAGGAACAGCGGTGCCCAGGGAGTTCTGCCCCCACTTATCACTGAAGGGGCCCCCAGGTCTTCAACCTTCCCCCTGCAGGGGACAAAGGCCAGTCACACGTCTAGGGCAAGGGTGGCTTGAACGTGACCTCCTGCTTCCTGGCCGCACACCACTGCTCACAAATAGCGAGTGATAGGGGCCTCAGCCCCAACATCCCGGCCTGCCCTGCTCTGCCCTGCCCAAGCCCGGCCCCTGTAGTGGCAGCACCTGAGGAAGTCAGGGGCCTTGGCAATCATGTCCTCGAAGTCAGCAAAGCCCAGCTTGCCGTCACCGTCCAAGTCAGCCTCCTCAATGACCTTGTCGCACACAAGCACCACCTCCTCCTCATCCAGCTCTGACTTAGTGAGCCGGGCCAGCGTCAGCTCCAGGTCCTCCTTGCAGATGAAGTTGTCAGTGTTGAAGTCTGTAGGGCAGGGGTTGGACATGTTCAAGTCCAGGCTGCGTGCACCCAGGGACCCCTACACTATAGCTCTTCCTCCTAGCTGGCCCCACTACCTCCACCAGCTTCTGATGTCCCCAGAGCATCTCCATGCACACTCTTGGGATACTGGATCCCTGCCCCCAAGAGGGCTTACCCACCAGGCATCGCTTAAACACCCACATCCACCACCAACAACAACCCCACAATGACTAAACCACATCCTGAAGCAGGTCAAAAGTCCAAATCTGAGGTTTCCTGAGAACTTCAGGCTTAGGCCAGATAGCCCTTCCTGGCCTTAGCCCACAGTGGACCCAGTGTTCCCTTTAGACTTCTAGAGCTAAGGAAACTAAGGCCCAAAAAGGCCATGCGATTGAATCAAGGTGGGAGAGCCACTCGGAGATGGAGCAGGGATTCTGACTAGGGCCTATGGGACTCTAAGACCCATGTTTTCTAAACTGCACCCCGTTGCCTCAGTGGTGTGTGACCAGAAGACACGGTGGGTCAGGAGACTCAAAATCAAAAGACCCTTAGAGAGGGGCCTGTGCCTGGCCTTTGTGCACACAGAGCAGGGAACATGGTTTGATTCTACCCAGCAAAAGGCACTACCACTGCCCCAAAGCACAGCAAAATGGTTCAGAGGACCGAGCCATGCCTGGCCACATCAAAGTGAACTCTCTCTTCTTACATTTTGAGCCCAACTACCAGATCTGCGCATGTGCTGTTTCTTCTGCCTGGGGTCCCTTCCCAGCAAACTCCTGGTCATCCTTCAAATTTTGGCTCACACATCACCTCCCAGTGGCGGGGCTTTCTAGCGATAAGGGTCCTCTTCCCCGCAAATGAGCTTCTGTTGCCCATTGGCAAACTCTGACATTAATGGTAGTGACAAAGACCCATCATGTGAGCATTATATGCTCTTTCTCATTTAATTTTCAAAACAAAACTATGAGGCAGGCACAATTGAATCTCCACTATACACATGAAGAAACAGAGAGGTGGCCAGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGCGAGTCCGAGGTGGGTGGATCACGAGGCCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTCGTTGACAGAGCGAGACTCTATCTCAAAAATAAAAAAAGAAACAGGGAGGTGAAAAGGAGAGGTACCTGCCTGAGGTCACATCCCGGTCATTGTTGGACCCTAGAGCCCAAGCTCTTGGGGTGACTCTGCCCTGTCTATCTCTGCAGAGGCCTGGGCACAACTCTAGGGTATGCGTCAGGGAGTATTCATCTCTGCCCATGGCATGGGACATAGCAAATCTCTGGAAAGATTTGCTGGCTGGCTGGCTGAATTCCTGTGGCCATTTAACCTGAGTAAACTGAGGCTCAGAAGTGAGATGATCATTGTTGCAAATGAGGCCCCAGGCCTCCCCAGCGCCAGACTAGGAGGGCCCTGGCTGCCTCTCCCCACTCCACCCCCAGCCTAGAGCAGCAAGGAAGCCACAGTTCTTCCATGTATTCCTGTGCCCACCCGGTCCATGCGATCTGCACGCCCCTGTCTTGGGCAGACAGCAGCCCGTCCCAGGAGCAATGCTATGGGGTCCAAGACCGGGCGGATGTTGGGTGGAATCTGAGAAGCTTTTTACATGAGCCATGTGGGCATAGTTTGTGGAGGGCAGACTGGCAGGTATTTTCTTTCTAATATGCAAGCAAAACGTGGGTGCACAGACAGAAACCAAAGTCCTCTGAAATAAACATGATAACTAGAAAGTGAAACGTCAGTCTGGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGT
CTGAGCACTTACCGAATGTGTGGCAGGCTGTGTGCTAGCACAGACACCTTTCTAACTGGCCAAGTGACATCATGCAATTGCTACCGAGAACAAAACCAGTTCCCCTCCTTGCGGCCCCATCAGCGAAAAGGAGGGGAGGGCCAGAAGCCACATCCTCTGCTTCAGGCCTCTTCGCTCCAGCTGTACCCTCAGGTCAGGCTGGCTCTTCCTGGAACTCTGTCCCTCAGGAAACTTCCTGTTTTGTGTGTCACTTCCCTTCCTATCCACATGTCCCCTTCTCTATAAGGGTGGACAGCTGGCTTGCTACCCCACTCCCAACAACCCCCAGGCCTGGGATGCAGAAAACAGGACTGATCATCTCCAGAGAGAACACCATACGTGCCCCTCCTCCCTGCCCTGACCCTGGGCAGAGCGGGCTCAGGTTGCATTTGTGGGAAATCTACTCTTAGTGACCACTTGGCTATGCAGCTTTTCCTGAAATATAGGCCTGTAAGAGTCCCTCCCTCCTTGGGGGTTTAAGGATTGAGACTGAAGCAACTGTCCCTGTGCCTGAGTGGTTAGCACTCCCAAATGTTAACCAGAGATACTGTCAGGGAATTCACGGAAGGTTCGGGGCATGAATGTGTTTTCCTCCCGATGGCACACGCACTGAAATCAAAGTTAGTGCCTAAAGCAGGAGGCACTGCCTAATGCCGAGAGGTGAGACACCAATGGTGGGATTTCAAGGATCAGAAGCAAAGGTACCCTCAAACATTTCCTAACATTAGCATACATGGAGAGCAAAGGGATGCAAAAGTGTTTTACTACCAGGAGTTCACAAATCTGTGGACAGCACACCAGTGAGGATTCCACGGTGTTGGGGAGGCAGGCAGGGTGGTACTCATGACCCAGAGGCAGAGACAGGAGCAAGAGCCCTTGGGCCCACTGCACCCACAGCTTCACATTGTGAAGGAGGCCGGGAGAAGGGGAACAGGCAGGGGTGGGAAGCAGCCCAACCTTGGGTTTTGGAAAAAGATTGCATAGCTCGTTAAAACCCTGACCTCTTTTTTTTTTTTCCGCTCTGTCCTGGGTGACCAGGGTGTCTGCCAGCACTTGGACACGTCAGACCCCACCACCTCCTGTTGGGTTATCTGCTTTTCCCTCTTTGGGGGGGTGGGGAGCATTTCTGGAGTAGGAAAGGACTGGGGCATGGGGCGGGGTGCGGAGGGCCTGGAGAGAGGCCATGGGTCCCGGGGCTGGACCACAGCGGGGCTGTGGGAAGGGTCCTAACCTTCACAGGCCCCCTTCCTGGTTAAGGTTTTTTTTTTGCTGAAAGGGCCACAGGATATATTTGTGGTGTAAACCCCAGAGGCTGCCACTGCTTTCCTGGGGAGCTTGGAGGCCACACCCATGTGACTGCAGGGCAGGATGGTGGACTTCTAGGCCCCTACAGCCTCGGCAGTGTCCTCAGATCCGGATGTGGAAAGTGCTAGAAAGAGAGAAAGGGCAAGAGAGGGTGAGAGGCCCTGGGTCGGGCAGGTAAAGGCTCCTCAGGGAAAAGCACAGCAGGCCCCAGCCCCATGCTGGACAGTGCCTCATTAGGGAACCCTGCATAGTGGATGCAGGTAATCAACACTGGGGGAAGACGGAGGAACAGCGGTGCCCAGGGAGTTCTGCCCCCACTTATCACTGAAGGGGCCCCCAGGTCTTCAACCTTCCCCCTGCAGGGGACAAAGGCCAGTCACACGTCTAGGGCAAGGGTGGCTTGAACGTGACCTCCTGCTTCCTGGCCGCACACCACTGCTCACAAATAGCGAGTGATAGGGGCCTCAGCCCCAACATCCCGGCCTGCCCTGCTCTGCCCTGCCCAAGCCCGGCCCCTGTAGTGGCAGCACCTGAGGAAGTCAGGGGCCTTGGCAATCATGTCCTCGAAGTCAGCAAAGCCCAGCTTGCCGTCACCGTCCAAGTCAGCCTCCTCAATGACCTTGTCGCACACAAGCACCACCTCCTCCTCATCCAGCTCTGACTTAGTGAGCCGGGCCAGCGTCAGCTCCAGGTCCTCCTTGCAGGTGAAGTTGTCAGTGTTGAAGTCTGTAGGGCAGGGGTTGGACATGTTCAAGTCCAGGCTGCGTGCACCCAGGGACCCCTACACTATAGCTCTTCCTCCTAGCTGGCCCCACTACCTCCACCAGCTTCTGATGTCCCCAGAGCATCTCCATGCACACTCTTGGGATACTGGATCCCTGCCCCCAAGAGGGCTTACCCACCAGGCATCGCTTAAACACCCACATCCACCACCAACAACAACCCCACAATGACTAAACCACATCCTGAAGCAGGTCAAAAGTCCAAATCTGAGGTTTCCTGAGAACTTCAGGCTTAGGCCAGATAGCCCTTCCTGGCCTTAGCCCACAGTGGACCCAGTGTTCCCTTTAGACTTCTAGAGCTAAGGAAACTAAGGCCCAAAAAGGCCATGCGATTGAATCAAGGTGGGAGAGCCACTCGGAGATGGAGCAGGGATTCTGACTAGGGCCTATGGGACTCTAAGACCCATGTTTTCTAAACTGCACCCCGTTGCCTCAGTGGTGTGTGACCAGAAGACACGGTGGGTCAGGAGACTCAAAATCAAAAGACCCTTAGAGAGGGGCCTGTGCCTGGCCTTTGTGCACACAGAGCAGGGAACATGGTTTGATTCTACCCAGCAAAAGGCACTACCACTGCCCCAAAGCACAGCAAAATGGTTCAGAGGACCGAGCCATGCCTGGCCACATCAAAGTGAACTCTCTCTTCTTACATTTTGAGCCCAACTACCAGATCTGCGCATGTGCTGTTTCTTCTGCCTGGGGTCCCTTCCCAGCAAACTCCTGGTCATCCTTCAAATTTTGGCTCACACATCACCTCCCAGTGGCGGGGCTTTCTAGCGATAAGGGTCCTCTTCCCCGCAAATGAGCTTCTGTTGCCCATTGGCAAACTCTGACATTAATGGTAGTGACAAAGACCCATCATGTGAGCATTATATGCTCTTTCTCATTTAATTTTCAAAACAAAACTATGAGGCAGGCACAATTGAATCTCCACTATACACATGAAGAAACAGAGAGGTGGCCAGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGCGAGTCCGAGGTGGGTGGATCACGAGGCCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTCGTTGACAGAGCGAGACTCTATCTCAAAAATAAAAAAAGAAACAGGGAGGTGAAAAGGAGAGGTACCTGCCTGAGGTCACATCCCGGTCATTGTTGGACCCTAGAGCCCAAGCTCTTGGGGTGACTCTGCCCTGTCTATCTCTGCAGAGGCCTGGGCACAACTCTAGGGTATGCGTCAGGGAGTATTCATCTCTGCCCATGGCATGGGACATAGCAAATCTCTGGAAAGATTTGCTGGCTGGCTGGCTGAATTCCTGTGGCCATTTAACCTGAGTAAACTGAGGCTCAGAAGTGAGATGATCATTGTTGCAAATGAGGCCCCAGGCCTCCCCAGCGCCAGACTAGGAGGGCCCTGGCTGCCTCTCCCCACTCCACCCCCAGCCTAGAGCAGCAAGGAAGCCACAGTTCTTCCATGTATTCCTGTGCCCACCCGGTCCATGCGATCTGCACGCCCCTGTCTTGGGCAGACAGCAGCCCGTCCCAGGAGCAATGCTATGGGGTCCAAGACCGGGCGGATGTTGGGTGGAATCTGAGAAGCTTTTTACATGAGCCATGTGGGCATAGTTTGTGGAGGGCAGACTGGCAGGTATTTTCTTTCTAATATGCAAGCAAAACGTGGGTGCACAGACAGAAACCAAAGTCCTCTGAAATAAACATGATAACTAGAAAGTGAAACGTCAGTCTGGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGT
Task1_train_21745
This mutation is located in gene CIB2 (calcium and integrin binding family member 2) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Retinal dystrophy
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
Task1_train_21746
A mutation on Chromosome 15 affecting CIB2 (calcium and integrin binding family member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hearing impairment
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
Task1_train_21747
Chromosome 15 houses a mutation in gene CIB2 (calcium and integrin binding family member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 48
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
Task1_train_21748
The gene CIB2 (calcium and integrin binding family member 2), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Usher syndrome type 1J
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
Task1_train_21749
A mutation found in CIB2 (calcium and integrin binding family member 2) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Usher syndrome type 1
GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGGTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
Task1_train_21750
Consider this mutation in CIB2 (calcium and integrin binding family member 2) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Usher syndrome type 1J
GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGGTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
Task1_train_21751
A variant was discovered on Chromosome 15, affecting IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Retinitis pigmentosa 90
TTTTACAGATTTCCGCTACAGGGGTTACTTAGTTTTGAAAATTTATGCATTTAAACTGAATAAGGCCTGGCCATCTGTGAAGGTAACGCCATTCTTTTATGAAGTAACTACTCATAGTAAGATGTTTTATTCATTTGGGACATTTTTTTCCCCCAGTAAAAAACATTAAAGTATTACTGGATGATGCCAAATAACAGTATCTCTATTTAATCTTCAACTATATATATCTTTTGCTTAATTTTTACATTTGTATATTTATTTATTTACTTAATTTTTTTGTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCAGTCCTCCCACCTCAGCCGCCCGAGTGGCTAGGACTACAGGTGTGCCACCATGCCCAACTAATTTTTTAAAAAGTTTTTTGTAGAGATGGGGTCTCACTATGTTTCCCAGGCTGATCTGGAATACCTAAGCTCAAGCAATCCTTCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGACTTAGCCACTGTGCCTGGCCTACATTTTTATTATTATTTTAATTAATACATGTTTAAGGCCATAATTCAAAAATACTAGCATGTGGTAGATTTAAATTCAGCATAGGCTTTATTTTTATATTTTTTGAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCGTGATCTCGGCTCACTACAACCTCCGCCTTCTGGATTCAAGCTATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCACACACCACAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAAGCGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCCTGAGACTGTAGGCCAGAGCAAGCATAGGCTTTAAAGCCACAGACAGAACCAACATTGAATCTCATCTCTGCTACTTACTGGCTAGAAGGCTTGGGCAAATTTTTTATTCTTATTTTTTCTTTTTTCGTCATTTTTAAATGACAGTAACAGAGTTGCTGTTGTACGGGGTGATGATAAGGATTATATCATGTCAAGCACATGATTACAATGCTTGATCCTCAGGAAGTTCTGAAGATAAGAAACGCAGTTAATGTTCCAGAAAGCTCCCGTGAGGAAGTGTTCCTCCTTCATTTGAATCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACAT
TTTTACAGATTTCCGCTACAGGGGTTACTTAGTTTTGAAAATTTATGCATTTAAACTGAATAAGGCCTGGCCATCTGTGAAGGTAACGCCATTCTTTTATGAAGTAACTACTCATAGTAAGATGTTTTATTCATTTGGGACATTTTTTTCCCCCAGTAAAAAACATTAAAGTATTACTGGATGATGCCAAATAACAGTATCTCTATTTAATCTTCAACTATATATATCTTTTGCTTAATTTTTACATTTGTATATTTATTTATTTACTTAATTTTTTTGTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCAGTCCTCCCACCTCAGCCGCCCGAGTGGCTAGGACTACAGGTGTGCCACCATGCCCAACTAATTTTTTAAAAAGTTTTTTGTAGAGATGGGGTCTCACTATGTTTCCCAGGCTGATCTGGAATACCTAAGCTCAAGCAATCCTTCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGACTTAGCCACTGTGCCTGGCCTACATTTTTATTATTATTTTAATTAATACATGTTTAAGGCCATAATTCAAAAATACTAGCATGTGGTAGATTTAAATTCAGCATAGGCTTTATTTTTATATTTTTTGAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCGTGATCTCGGCTCACTACAACCTCCGCCTTCTGGATTCAAGCTATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCACACACCACAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAAGCGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCCTGAGACTGTAGGCCAGAGCAAGCATAGGCTTTAAAGCCACAGACAGAACCAACATTGAATCTCATCTCTGCTACTTACTGGCTAGAAGGCTTGGGCAAATTTTTTATTCTTATTTTTTCTTTTTTCGTCATTTTTAAATGACAGTAACAGAGTTGCTGTTGTACGGGGTGATGATAAGGATTATATCATGTCAAGCACATGATTACAATGCTTGATCCTCAGGAAGTTCTGAAGATAAGAAACGCAGTTAATGTTCCAGAAAGCTCCCGTGAGGAAGTGTTCCTCCTTCATTTGAATCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGTGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACAT
Task1_train_21752
Gene IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Retinitis pigmentosa 90
TCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATT
TCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGACGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATT
Task1_train_21753
Here is a genetic alteration in IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Retinitis pigmentosa 90
ATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCAC
ATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGACGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCAC
Task1_train_21754
Mutation context: Chromosome 15, Gene IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCACTGCAGGCTTGAACTGCTAGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGCACTGTAGTCAGGCACCACCATGCCTGGCTAATTGCTAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTTCTTGCCTTGGCCTATCAACGTGTTGCGATTACAGGTGTGAGCTATCACGCCCAACCCAGACTTTATTTCTTCAGTCCATATCAGATGAATTGCACGCAGTAGCTTTCAGTGCATATTTTGTATTGCTGAGGAAAGATGGTTAAGACTCCAGCTTCCCCAGAAGAGGACTGTTAGTTTTTGTCTCTCCCTTGATGATGCTACTTTTCCCGATGTGTAGGTTCATGGGACGGCTCCAGACATTGCAGGCAAGGACATGGCGAATCCCACAGCCCTCCTGCTCAGTGCCGTGATGATGCTGCGCCACATGGGACTTTTTGACCATGCTGCAAGAATTGAGGCTGCGTGTTTTGCTACAATTAAGGACGGAAAGGTAACAGGAATCTTGATTTACTTGTGCTGGGTAAAATGCATTGCTTCCATGTGTTTTATCTGAGTGAAAGGGACAGTGACAGATAATAGTTCTCAGGCGGGCCCAAGCATTTGATGTTGAACAAGGATTCTTAACGTGGGTCCCAGATTGAACAGGGTATGTGTGCACATGTGTGCATTTTCTGAGGTGAGGATCTAGATATTTCATCCAAAAAAAGTTAAGCAGCACTGATGTATAGACATCAGTGTACAGTGGAAAGGTCAGTGGTTTGGGAGGCAGCATCAGGTGCACGCCCAATTATCCTATTGTTAGCTGTGTGACCTTGGCCAAGTTCATTGATTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGTCATAATCTTGGCTCACTGCAACCTGCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCGCCCCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCAAGTTCATTGATTTTTATAGACAACTTTTTACTCTTCACAACAAACGTCTGTTGAGTGTACCTTATAAGGTGTGAAGAGTAAAATGATGAATAGGGTAAGATGCTGAGCCTCAAGGAGCTGGGAATCTAGTGGCAGATACAGATGCAGATGTACCTCTAATACAATAGTCTTATATGTTACACTGTGTGCATCTATAATACAAAAGCAATACAGAAGTTTTATAAAAGTAATAACTAATATTAATTGAATACTTATGCAACTTTTAAGTTCTTTATATATCATCTCAGCAAAGTTTTTCTATAACTCTTTGAAGTAGATGCTATAATTCCATTTTATAGATGAGGAAACTGAGGTACAGAGAGAATAAATAATATGTCCAAGGTTTTACAGCTCCTAAATGACCCAAGTTGGTATTAACACGCAGTCTGGGCCTTACCCAACAAGCTCCACCGCCTCGGTAAGCAATTGTGGCCTGTGGAAGAAGTGTCGCGGGCTATTCCGAAGTTAGAGGAAATAATGCACTTGAAGACTCATCCCTAATTTGAGGTCCTTTTTAACAAAAATTGTGAAAAATATGCATAACATAAAATTTGCCATTTTAGCCGTATTTAGGTATACAGTTCAATAATGTTAAGTACATTCACATTGTAATGTAACCATCACCATCAGTCATCTCCAGACCAGTTTCATTTTCTCAAACTGAGACTCTGCACCCGTTAAACAGTAACTTTCCCTTCCCCCTCCCATCCTCTGACACCTGCCATTCTGCTTCCTGTCTCTATGAATTTGACTACTCTAGGTACCTCATGTAAGTGGAATCATACAGTATTTGTCCTTTGAGTCTGGCTTATTTCACTTAGCGTAATATCTTCAAAGTTGGTCCCTTCTTTTAAAAAAATTCTGTAATTTGAAATTATATCGTGTGGCCAAAATACAAGAAATTCAGGCTTGTTTTTAACAGCCTGATAGTCACATTGGAGGTCATATGATTTTCTTATTCTTTAAAGTTATATTTGGGAAGTTATAATCTACAGCCCAGTAGAGAGGTGCCTGAATTACATAGTGGGCCCTTTTATTGTGTAGGATGGAAAGATAAAGAGAATTAAATATATTGGGGTCTGTATGCAGGAAAGAAAGGATAAGCTGGTAGAACAGATCAGTTGTATGGGAGGCTTTCTTTCCTAAAGAGGGAGGTTTAAGAGTTAATGATTTAGGCAGGTGTGGTGGTGCATGCCTGTAGTTGCAGCTATAGGCTGAGGCAGGAGGATCACCTTAGCCTCTGAGTTCAAGACCAGCCTGGGCCACATAGTGAGACCCCGTCTCTTAAAAAAAAAAAAAAGAGTTAA
CACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCACTGCAGGCTTGAACTGCTAGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGCACTGTAGTCAGGCACCACCATGCCTGGCTAATTGCTAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTTCTTGCCTTGGCCTATCAACGTGTTGCGATTACAGGTGTGAGCTATCACGCCCAACCCAGACTTTATTTCTTCAGTCCATATCAGATGAATTGCACGCAGTAGCTTTCAGTGCATATTTTGTATTGCTGAGGAAAGATGGTTAAGACTCCAGCTTCCCCAGAAGAGGACTGTTAGTTTTTGTCTCTCCCTTGATGATGCTACTTTTCCCGATGTGTAGGTTCATGGGACGGCTCCAGACATTGCAGGCAAGGACATGGCGAATCCCACAGCCCTCCTGCTCAGTGCCGTGATGATGCTGTGCCACATGGGACTTTTTGACCATGCTGCAAGAATTGAGGCTGCGTGTTTTGCTACAATTAAGGACGGAAAGGTAACAGGAATCTTGATTTACTTGTGCTGGGTAAAATGCATTGCTTCCATGTGTTTTATCTGAGTGAAAGGGACAGTGACAGATAATAGTTCTCAGGCGGGCCCAAGCATTTGATGTTGAACAAGGATTCTTAACGTGGGTCCCAGATTGAACAGGGTATGTGTGCACATGTGTGCATTTTCTGAGGTGAGGATCTAGATATTTCATCCAAAAAAAGTTAAGCAGCACTGATGTATAGACATCAGTGTACAGTGGAAAGGTCAGTGGTTTGGGAGGCAGCATCAGGTGCACGCCCAATTATCCTATTGTTAGCTGTGTGACCTTGGCCAAGTTCATTGATTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGTCATAATCTTGGCTCACTGCAACCTGCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCGCCCCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCAAGTTCATTGATTTTTATAGACAACTTTTTACTCTTCACAACAAACGTCTGTTGAGTGTACCTTATAAGGTGTGAAGAGTAAAATGATGAATAGGGTAAGATGCTGAGCCTCAAGGAGCTGGGAATCTAGTGGCAGATACAGATGCAGATGTACCTCTAATACAATAGTCTTATATGTTACACTGTGTGCATCTATAATACAAAAGCAATACAGAAGTTTTATAAAAGTAATAACTAATATTAATTGAATACTTATGCAACTTTTAAGTTCTTTATATATCATCTCAGCAAAGTTTTTCTATAACTCTTTGAAGTAGATGCTATAATTCCATTTTATAGATGAGGAAACTGAGGTACAGAGAGAATAAATAATATGTCCAAGGTTTTACAGCTCCTAAATGACCCAAGTTGGTATTAACACGCAGTCTGGGCCTTACCCAACAAGCTCCACCGCCTCGGTAAGCAATTGTGGCCTGTGGAAGAAGTGTCGCGGGCTATTCCGAAGTTAGAGGAAATAATGCACTTGAAGACTCATCCCTAATTTGAGGTCCTTTTTAACAAAAATTGTGAAAAATATGCATAACATAAAATTTGCCATTTTAGCCGTATTTAGGTATACAGTTCAATAATGTTAAGTACATTCACATTGTAATGTAACCATCACCATCAGTCATCTCCAGACCAGTTTCATTTTCTCAAACTGAGACTCTGCACCCGTTAAACAGTAACTTTCCCTTCCCCCTCCCATCCTCTGACACCTGCCATTCTGCTTCCTGTCTCTATGAATTTGACTACTCTAGGTACCTCATGTAAGTGGAATCATACAGTATTTGTCCTTTGAGTCTGGCTTATTTCACTTAGCGTAATATCTTCAAAGTTGGTCCCTTCTTTTAAAAAAATTCTGTAATTTGAAATTATATCGTGTGGCCAAAATACAAGAAATTCAGGCTTGTTTTTAACAGCCTGATAGTCACATTGGAGGTCATATGATTTTCTTATTCTTTAAAGTTATATTTGGGAAGTTATAATCTACAGCCCAGTAGAGAGGTGCCTGAATTACATAGTGGGCCCTTTTATTGTGTAGGATGGAAAGATAAAGAGAATTAAATATATTGGGGTCTGTATGCAGGAAAGAAAGGATAAGCTGGTAGAACAGATCAGTTGTATGGGAGGCTTTCTTTCCTAAAGAGGGAGGTTTAAGAGTTAATGATTTAGGCAGGTGTGGTGGTGCATGCCTGTAGTTGCAGCTATAGGCTGAGGCAGGAGGATCACCTTAGCCTCTGAGTTCAAGACCAGCCTGGGCCACATAGTGAGACCCCGTCTCTTAAAAAAAAAAAAAAGAGTTAA
Task1_train_21755
Gene MTHFS, ST20-MTHFS (methenyltetrahydrofolate synthetase| ST20-MTHFS readthrough), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
ACAGTCTCCCATTTGCCTCCTTTCCCCTCATCTTCACTGCCCATGCTCTGGTTTGCATATTTTTCATCTTTCACTTGAATTGGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATACAGTTAAAAAACAATGGCGCCAGATTCAGCCCAGATCTGTGCAGTTCCAAAGCCCATGCTAAACTGTATCCTGTCATCTCTTGCCTAAATATCCCTACTCACACTCCCCTATCCCATCTTTCCCTTCACCTGAAAGAATTCATCTTGTTCTCCGAAATTCATCTCAAACATTTTCCAATAGAAAGCTTTCCAATTTCCCCTCCCCAAGGCTATGTTTCCACAACATTGGTGTTTACCTTTATCATATATCTGGCTTCAATGCAATTCTTTATTCATGTCTGTTTCCTCTTCTAGGCTCTCTGCTCCTTTAGAGCAACAATCATATCTTTTTCATCTCCACAACCCAGTATATAGCCAAGTGTGCACTACATAGGTGTTCAACATATGTGAATGAATTAGCTAAATTTTAAACAACTAGATAGTAAGGACAAGAGTCTATATCCTTTACATCTACTAAAACACCCAGCAATGCTTCCTCATAATAGCTAAAATAATTCTGTTTGAACGAACGAATTAACATCTGTATAGATTCCCTCATACACACCTACATAGATGAAGAGAGGGGTGAAATGAGCATATATGCTTTACTGCTTTAACCCATAGGCACCTTGAATTTGAGTAAATAACGGATAATAGAATAGTGAAGGGTAATTAAGAAAGCCTGATGGTATAACTAATTCCAAGGAACATCAAGTTTCCAAATATCTGGTGTCTCTGAAGCATGATGCTGGGAAGACAGATCATCAGTTTGACTTACAACAGAATTACAAATACGTACTTATTCAGGGGACATTAAATTTTTCTTCCTCTGGTGTCTAACAAAAATGAGTCCCCAAAAACTCTTTAGAACATGCCTTCACAACAGGATATGACTGCCATTTTATTGATAAGAAAACTGACATTACATAGACTAAAAATACATAGCAGTGCAGTTGGTGAAAGTAATGAAACAGAGGTCTGCTAACCAACAAACACGGACCCTCACTTATTCCTCTCATTTCTCTCTTCTGTTTCCTACGTTCTTGGGAAGCCTGGATATGATAGCCAAGTCTTCCTTTCGTTCACTCAAGAAAAAGCATTTAATGTTGACCAACTCTGAGACAGGAAAAGCCTAGGCCCTGGAGCTACTGAGACACAGCCTTAGCCCTCCATATGCTTAGTGAAGTCCAGTCAACCTCTGAGTTCTGCCCTTTGGCATCTCCACACCTTTTTTGGTGTTCCCTCGTCTAAAGCACCTGCATCTTTCTCTGGCCATTTTACTAATATAACCGGAGTCTTACTCGTAGCTCATTAACTTTAGGCCTCACTGAGGGAACCTGGGCACTCAGGTGTTCACCCATCTCCTCTACCACAACTTTCTGTTCTCACCGTGCTCTCACCACAGCACCGTCATCCCCACGGAGGGTTTTCGAGCACCAAAAGAGCCACCCATGCAAACAAACTCCCCTCCCAGAGATAAATCTGTCAACCCCTGCCGTCCTCTCGCTCTTTAGCCCCACAACTTTCACTACCGGGCCCTCTCCCCGCCATAGTGCCAAGAGCGTCCAGACCACGACTAGGGGGCGTGCGCGCGCCGGGAGGGGAAACGTGCGCGCGCCGGGGGGTGGGGGGGCGCCTAGCCCAGCGCCAGCACGGACCATGCACAGATCAGCAATCGCTGGCCGCCAGGCCTTCGGAGGGTCTGTCCGCCGCGGCTTCCGCTACGGGCGGCCTCGCACCTTCTGGCTCAGTACGCGGGACTGGCGTAGCCGCTCCTCGGCACTCATCGCCCGCAGACGCTGCTTCAGCTCTCCCCGCAGGCTCCGCTTGGCGCTGCTCACCGCTGCCGCCGCCATCTCACGCCCAAGCCGAGTCCAGTCCCGCCCTCGGCGCCCTGGGCGCCCTCGGGTTCGGTCTCCGCCCCTGGCCGCTCCCAGGTGGATCCGCGGCCTAGGGGCGGGTCGGGGCTCGGGGAAGCGCCCCCACCCCGCTTCCGGGACGCGGGCCCGCGGCGCGCCGCGCGCTTACCTCGCCTCTGGCCCTTGGGACCCAGCCCTCGTGCGGTCCCCGTGGTCCGGCTCGCCCTCCCCGGTTAGGGGAGCGGTGGCGAGGCGCCGTCGCTGCCCTGCCGCCTGACCTCCCTGAGCCTGGGCCCTCACCGGGACCGCGGAGGCGGCAGCGCCACTGGCGGGGATGGTAAAGATGGCCGGCAGTACCCACGGTGCCTGGCATCTCTTGTACTGTTCAGTAGTGGGACTTCAGGGGCCAGAAAAGAAGGGCAAGGCAGGACATGTAGCGAAATCGTCACGAGTCGCTTAACTACAGGGATAGGTCTGACAGATGCCCCGATTTCCTTCTTGTGCAAACATCAGAGTGTAGTTACACAAAGTTACTACACACCTATGCTACACACCTGTACAGCGTATTTTGTACCGAATACTGTAGGCAATTGTAAGCACCGTGATACTTGTGTATCTAAACACAGAAAAGGTAATGTGTTGGTTGGCTACCACATCAGTAGGTATTAGGAATTTTTCAGCTCCATTATAATCTTAAGGGACCACAGTGGTTGATGGAAATGTCCTTATGTGATGAATGTATAGATGATACATAATCGGGAACACTGCTAAAGCAATAACTGTAGTGTAAAAGCCAAATTTTGCGGGTTTCTAGTGTGAATGTATTCCAGGTAATAGTGCCCACATAGGTACTTCCTGTTATAACCATCAGTGACTGTTCATTCCCACCACTCAGCTCTGATTAAAACACAAAAATGAATTAAAACTAAAAGCAGTTGGGGGGTGGGTGAGGCACTTGCAGGAAGAGGTAAAAGAAACTGTTAAGTCTTAAACTGCTCCCAGTAGACAGGCGCCTCAGATGGCATAGACGGTTGCCTCTCAGATGTGACTTCCTAAGAAAACCAGAGCTGTCTCTGCCAAAAATACGTCCCTACTGACCGCCCCAGTGTCTTAATCCCCACCGTTAAGAATCACACCTCCTAGGTAAAGCATTAATTAAGTGCCCGGTGAGAATGCACATGGCTTGAGAGGGGAGTTCTGGCTTCTTTATGGAATCTATCAACAGCTTCCAGGGAAAGCTAATGCAAGTCCCAGGGGGACTGTGTTGTAAGAAAAAGGGAAGGCCAGGCAGGTACAGCGTATACATAGTGCAATTAGATTTGCTGACCTAAAAGTTAGAACACGAGGTCTAACAAACTACGTACTTTTCTAATCTGTTCATTTTTACCAAAAAATAAAAATTAAAATTAACACTAGCTCCACGTTGAATCATTTACCAATTTTCTTTGTTCAGAATATCCCAGAGTATCCTGCATATCAGGTTGCCATATCCATCAACCCCAAATGGCAAGCCAGAGAGAGAAGGCTGGGGAGGAGGCATCAATGGAAACTCTTAAGCAGCCAGGGGCACTGGAAACTGCAGAAAGCATGGGAAGGAAGGAGGGAAGAGGGAAGCCGACCTGAGTCTGCTTCTAGCCTGAGTCCGCTTCTCAGTCTAGTCTGCAGTCTAGCCTAGTGACACAGAAAAGGACTTTTGGGGTAATGGCACACCTTAAAAGTCTGCCTGGGGCAGAAAAGACACCGCCTTCCTGGTCATCATCCCATAATTAATTGCCTGGATCCTGTGTTGAGCTTTTACCCTTTGGCTGAATTTCCAGCCAGACTCCAAAACTGAAGACAAAAATGGCATATAGAGAAAAATACATACAATTTATTCATTAAATAGGGACAAAATTTCTGTAACTCTGGAAGGTCAAGTTACATCATCAAAGTTGTTTA
ACAGTCTCCCATTTGCCTCCTTTCCCCTCATCTTCACTGCCCATGCTCTGGTTTGCATATTTTTCATCTTTCACTTGAATTGGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATACAGTTAAAAAACAATGGCGCCAGATTCAGCCCAGATCTGTGCAGTTCCAAAGCCCATGCTAAACTGTATCCTGTCATCTCTTGCCTAAATATCCCTACTCACACTCCCCTATCCCATCTTTCCCTTCACCTGAAAGAATTCATCTTGTTCTCCGAAATTCATCTCAAACATTTTCCAATAGAAAGCTTTCCAATTTCCCCTCCCCAAGGCTATGTTTCCACAACATTGGTGTTTACCTTTATCATATATCTGGCTTCAATGCAATTCTTTATTCATGTCTGTTTCCTCTTCTAGGCTCTCTGCTCCTTTAGAGCAACAATCATATCTTTTTCATCTCCACAACCCAGTATATAGCCAAGTGTGCACTACATAGGTGTTCAACATATGTGAATGAATTAGCTAAATTTTAAACAACTAGATAGTAAGGACAAGAGTCTATATCCTTTACATCTACTAAAACACCCAGCAATGCTTCCTCATAATAGCTAAAATAATTCTGTTTGAACGAACGAATTAACATCTGTATAGATTCCCTCATACACACCTACATAGATGAAGAGAGGGGTGAAATGAGCATATATGCTTTACTGCTTTAACCCATAGGCACCTTGAATTTGAGTAAATAACGGATAATAGAATAGTGAAGGGTAATTAAGAAAGCCTGATGGTATAACTAATTCCAAGGAACATCAAGTTTCCAAATATCTGGTGTCTCTGAAGCATGATGCTGGGAAGACAGATCATCAGTTTGACTTACAACAGAATTACAAATACGTACTTATTCAGGGGACATTAAATTTTTCTTCCTCTGGTGTCTAACAAAAATGAGTCCCCAAAAACTCTTTAGAACATGCCTTCACAACAGGATATGACTGCCATTTTATTGATAAGAAAACTGACATTACATAGACTAAAAATACATAGCAGTGCAGTTGGTGAAAGTAATGAAACAGAGGTCTGCTAACCAACAAACACGGACCCTCACTTATTCCTCTCATTTCTCTCTTCTGTTTCCTACGTTCTTGGGAAGCCTGGATATGATAGCCAAGTCTTCCTTTCGTTCACTCAAGAAAAAGCATTTAATGTTGACCAACTCTGAGACAGGAAAAGCCTAGGCCCTGGAGCTACTGAGACACAGCCTTAGCCCTCCATATGCTTAGTGAAGTCCAGTCAACCTCTGAGTTCTGCCCTTTGGCATCTCCACACCTTTTTTGGTGTTCCCTCGTCTAAAGCACCTGCATCTTTCTCTGGCCATTTTACTAATATAACCGGAGTCTTACTCGTAGCTCATTAACTTTAGGCCTCACTGAGGGAACCTGGGCACTCAGGTGTTCACCCATCTCCTCTACCACAACTTTCTGTTCTCACCGTGCTCTCACCACAGCACCGTCATCCCCACGGAGGGTTTTCGAGCACCAAAAGAGCCACCCATGCAAACAAACTCCCCTCCCAGAGATAAATCTGTCAACCCCTGCCGTCCTCTCGCTCTTTAGCCCCACAACTTTCACTACCGGGCCCTCTCCCCGCCATAGTGCCAAGAGCGTCCAGACCACGACTAGGGGGCGTGCGCGCGCCGGGAGGGGAAACGTGCGCGCGCCGGGGGGTGGGGGGGCGCCTAGCCCAGCGCCAGCACGGACCATGCACAGATCAGCAATCGCTGGCCGCCAGGCCTTCGGAGGGTCTGTCCGCCGCGGCTTCCGCTACGGGCGGCCTCGCACCTTCTGGCTCGGTACGCGGGACTGGCGTAGCCGCTCCTCGGCACTCATCGCCCGCAGACGCTGCTTCAGCTCTCCCCGCAGGCTCCGCTTGGCGCTGCTCACCGCTGCCGCCGCCATCTCACGCCCAAGCCGAGTCCAGTCCCGCCCTCGGCGCCCTGGGCGCCCTCGGGTTCGGTCTCCGCCCCTGGCCGCTCCCAGGTGGATCCGCGGCCTAGGGGCGGGTCGGGGCTCGGGGAAGCGCCCCCACCCCGCTTCCGGGACGCGGGCCCGCGGCGCGCCGCGCGCTTACCTCGCCTCTGGCCCTTGGGACCCAGCCCTCGTGCGGTCCCCGTGGTCCGGCTCGCCCTCCCCGGTTAGGGGAGCGGTGGCGAGGCGCCGTCGCTGCCCTGCCGCCTGACCTCCCTGAGCCTGGGCCCTCACCGGGACCGCGGAGGCGGCAGCGCCACTGGCGGGGATGGTAAAGATGGCCGGCAGTACCCACGGTGCCTGGCATCTCTTGTACTGTTCAGTAGTGGGACTTCAGGGGCCAGAAAAGAAGGGCAAGGCAGGACATGTAGCGAAATCGTCACGAGTCGCTTAACTACAGGGATAGGTCTGACAGATGCCCCGATTTCCTTCTTGTGCAAACATCAGAGTGTAGTTACACAAAGTTACTACACACCTATGCTACACACCTGTACAGCGTATTTTGTACCGAATACTGTAGGCAATTGTAAGCACCGTGATACTTGTGTATCTAAACACAGAAAAGGTAATGTGTTGGTTGGCTACCACATCAGTAGGTATTAGGAATTTTTCAGCTCCATTATAATCTTAAGGGACCACAGTGGTTGATGGAAATGTCCTTATGTGATGAATGTATAGATGATACATAATCGGGAACACTGCTAAAGCAATAACTGTAGTGTAAAAGCCAAATTTTGCGGGTTTCTAGTGTGAATGTATTCCAGGTAATAGTGCCCACATAGGTACTTCCTGTTATAACCATCAGTGACTGTTCATTCCCACCACTCAGCTCTGATTAAAACACAAAAATGAATTAAAACTAAAAGCAGTTGGGGGGTGGGTGAGGCACTTGCAGGAAGAGGTAAAAGAAACTGTTAAGTCTTAAACTGCTCCCAGTAGACAGGCGCCTCAGATGGCATAGACGGTTGCCTCTCAGATGTGACTTCCTAAGAAAACCAGAGCTGTCTCTGCCAAAAATACGTCCCTACTGACCGCCCCAGTGTCTTAATCCCCACCGTTAAGAATCACACCTCCTAGGTAAAGCATTAATTAAGTGCCCGGTGAGAATGCACATGGCTTGAGAGGGGAGTTCTGGCTTCTTTATGGAATCTATCAACAGCTTCCAGGGAAAGCTAATGCAAGTCCCAGGGGGACTGTGTTGTAAGAAAAAGGGAAGGCCAGGCAGGTACAGCGTATACATAGTGCAATTAGATTTGCTGACCTAAAAGTTAGAACACGAGGTCTAACAAACTACGTACTTTTCTAATCTGTTCATTTTTACCAAAAAATAAAAATTAAAATTAACACTAGCTCCACGTTGAATCATTTACCAATTTTCTTTGTTCAGAATATCCCAGAGTATCCTGCATATCAGGTTGCCATATCCATCAACCCCAAATGGCAAGCCAGAGAGAGAAGGCTGGGGAGGAGGCATCAATGGAAACTCTTAAGCAGCCAGGGGCACTGGAAACTGCAGAAAGCATGGGAAGGAAGGAGGGAAGAGGGAAGCCGACCTGAGTCTGCTTCTAGCCTGAGTCCGCTTCTCAGTCTAGTCTGCAGTCTAGCCTAGTGACACAGAAAAGGACTTTTGGGGTAATGGCACACCTTAAAAGTCTGCCTGGGGCAGAAAAGACACCGCCTTCCTGGTCATCATCCCATAATTAATTGCCTGGATCCTGTGTTGAGCTTTTACCCTTTGGCTGAATTTCCAGCCAGACTCCAAAACTGAAGACAAAAATGGCATATAGAGAAAAATACATACAATTTATTCATTAAATAGGGACAAAATTTCTGTAACTCTGGAAGGTCAAGTTACATCATCAAAGTTGTTTA
Task1_train_21756
A mutation in FAH (fumarylacetoacetate hydrolase), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Tyrosinemia type I
CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCGTGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
Task1_train_21757
The following genetic variant occurs in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Tyrosinemia
CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCGTGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
Task1_train_21758
The gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; See cases
CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCGTGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
Task1_train_21759
This variant impacts the gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
Pathogenic; Tyrosinemia type I
CGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCC
CGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATATCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCC
Task1_train_21760
Consider this mutation in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Tyrosinemia type I
AACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCT
AACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCTCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCT
Task1_train_21761
The variant affects gene FAH (fumarylacetoacetate hydrolase), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Tyrosinemia type I
ATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCAC
ATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACATCCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCAC
Task1_train_21762
A variant found in Chromosome 15 affects FAH (fumarylacetoacetate hydrolase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Tyrosinemia type I
TGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCACCCTCTCTGAATGAG
TGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCTTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCACCCTCTCTGAATGAG
Task1_train_21763
This variant affects the gene FAH (fumarylacetoacetate hydrolase) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Tyrosinemia type I
CTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATC
CTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCCGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATC
Task1_train_21764
Consider a variant on Chromosome 15 in gene FAH (fumarylacetoacetate hydrolase). Determine its clinical classification and disease relevance.
Pathogenic; Tyrosinemia type II
TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCATGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
Task1_train_21765
The variant affects gene FAH (fumarylacetoacetate hydrolase), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Tyrosinemia type I
TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCATGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
Task1_train_21766
This variant impacts the gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
Pathogenic; T-substance anomaly
TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCATGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
Task1_train_21767
Consider this mutation in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Tyrosinemia type I
TGTGAAAGGTTCAGCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGAGGAGGGGCTCTGGGGCTGTTACCCGCTCCTCATCACTGACCTTTCCCAGCATCCAGGCCCGGCATTCACTCAGGCTATTATCTTGCCTCAGGTAGTGAGTTGCAGACTGCTCAAGTTCATGACTAGCCGCATGGCTCCCTGCACAGCAAATTGCTTTCCTTCCCCCAAAGGCTATGGGACAAATTCTCTGAGCTCAGTCTGTGAGTCAGCAGTTTTGAGGATAGAGGCCAGAGGGCTATGAAGGGCCCCAGTTTGAGCACGTGGCAGGATGTCTGGTTGGAGTGTCATTCAGGAAGTTGGAGCTGTTGAAACTCTCAACCTGAAGCAGAGAGAGAGGCTGGCTCAGCCTGCGGCCCAAAGCACAGCCCTCTTCCTTGTGCACAGGTCTCCTCTGCTGGGCTACCTGGGCACCTGTGAGCTGAGGGGCCAGTTGACCCTGCCCCTGGGGTACACTGCCTCTCTGGAACAGCTCCTGCTGTCCGGGGAGAGTCCTTTGCTGCTGGGCTGCTTGGGCTAAGCTGACTGGAGGATGGGGTTGGGGACAGGGGCCGAGTCACCTGCCTCCTCCCAGCCCCTCTCACTCCCCACTCTCATACACTCATGGGACTGTGCTATGTTTTGGCAAACCAGCTGTTGTGCAAACCATATGTCTTTCAGGGATATCATGTCTGGTTGACTGATGGTGCCCTTTCTTGTTTTTTTTTTTTTTTGTTATGGATTTATTCTTTTGAAAAATCTCTCAGCTATTACTTCTGTGCAATGGGACTGAAGATGGGAAGCAGCAGCTAAGGCTCCACCTGCCCTGTGGACTGTTCTTCCTCTCCTCACCCTTCACCATGACTGTTGCTAGTCTAGGCTGTTGGTATTGATGAATATCCAGCATTTTTTTTTTTTGAGGAGACATTTAGGAAGATAAAACAGGCAGACTGTCCCAACTGGTTTTTCTTTCAGATTTTTAATTCTCCGAATGGTAGATATGCCTACAGCTTGCTGGCTAGCCCATTCAGTTCATCATAATCAACAAGCACTGATATGCATCTGCAGTGTGCAAGCCCTTGTCCTTGGCACTCGGGCAGAGTCCAAGAAAATGAGGACTGGGCTGGGGCTGTCCTGGAATGTCCACAGTCTAGCAAAGATGTGCACACACATAACTGGAGCACCAGTGGGAAGCGAAGCCTGCCCCAGAAGGATTCAGGGGAGGGGATTTGGAGGGGGAAGAGATCCTGCTAGAGAGAGCAGGGAGGGCTTCAGGGAGGAGCGGGCCTCAAAGAGTTGCCAGGATTTGAATACACAGGGACAAGGGAGAAGTCAATCAGTATAGGCGTGGTGAGGGAGCCTGTGGGAACTCGGGAATGGCAGTTGTGTGTGGGAAAAGTGGGGAGCCTGAGAAGGGAGGTGGTATCAGCCACTTGGTGTTCACATTCCACTGTCAGTTTCAGAAAGTCTGGACTCCTGATTTCTTATTTGTTTCTCAGCTGAGGGCTCTAAAAACAAATCTTCAGTGAGGATATTTTATATTGCATTTGGTGCTGCCATTGCTGGCTGCAGGCTGAGCTCTGGATGTGTAAACAGTATTGTGTGCACACTCGTGGCTCCAGTGCTTGGAACAGTCCATTCTTCCTGAGGCATGTGGGTTGCTGATGGGATCTGTTGGGTCTTTCCTCTGCAGGAGACTACACAGACTTCTATTCCTCTCGGCAGCATGCTACCAACGTCGGAATCATGTTCAGGGACAAGGAGAATGCGTTGATGCCAAATTGGTATGAACTGGGCCAAATGTCTGCATAAGTTCAAAGTCTTTCTTTTCATTTCCAGCAGCATATTTGTCTCAGGAGCTGCCAAGTTCTTCTTAAAGTAAACTGGGGAGGAAAAGCAGTTATGATGTTGCAACCTCTGGAAGCAGTGGTCTCAGCTTCTGGTCTCCTGCTCAGCTTGGCTTAGGACTTGCTGTGGGATCGAAGGGCAAGTCCCTTAAACTTCCTTGGACAGCAGGGGTTGGAATTAGATTCCCTTAATCCCTATGCTCCTTCTGGAGTCTTTCATTTATAAGCTGTGTATTATTGTACTATGGGCAAGTCTTAGACTCTAGCATGCTCCATACTTACATTTTCTGATGAATGAGAATCCTCAAATGTGCCCAGTGCTGTATATTCCTCAACATGTGATCGGTTTCATTCATTTGTTTGATCCTCGTAGTAGTTCTCTGATGTCACAAGGCCATGATTGTAAGCCCCATTTTACAGACAGGAAAATGGGCTCAGAGAAGGATCAACTTGCCTGAGCACAACAGGGCCACAGCCTGTCTCCCAGCCCCCAGATCAGGCCATTGACCAAGCTGAGGATGCAGAGCTGGGATCCTTGCCCTTTGTTCTGTGTTGTCCCCTGGATGTGATGGTTCCTTGGAACTGAAGAGGGCCTGGACTCAGTGGCAGGCATACACTCCAGGCCCCAGTGCCATCAGTCACACACAGGAGCTGGGTTAGGGACGGGGCTTTACTCTCTCTCGAGTGAGTGTCTCCAGTAGGCTATGCCATGAGGGGAGGGTCTGTTAGAACCAAGATGAGGAAGAAAGAAAGGGAGAGAGAGCAGTTCCAAGCCAGAGATGTTGAACAACAAGGCCAAGGTTGCAGAATGAGGCAGGGGTGAATCTGAGACCAGAACCCAGGCTCCAGGTTCCAGGCTTCCACGTGAGATGCGCAAATATTTGAGAATCTTGCACTGTACAGGCTCCAGGCTGTATTTGTCCCCAGCCAGCTTCAACTTGTCTATCTGATGGGCTGAGTGTCTATATGAGTGTCCTTGGCAGTGATGACCCAGTGGACTGCCCAGCCCCAGAAGAGCTGGCTGTCACCTGTGTGCCAGGATCCCAGTGGCCAAAGGGCAGGGGCACCAGGAAGTGAGAGGAGAGCCGGGACCTGGGAAATGAGTGTTGACTGTGTCTGAAACCGAGTGTGGGGGCCGCAGCCATCCTTGCCCCATGTCCTTCTGCAGAATAAGAGTAAACAGGCCTTCTCTAGCCATGTTTGATGCAAGATGGCCCACAGCTGTGACTTTTTAGCTTTATGTACATAGTCTTTATTATAAAGGTAACATATATTTACTGGAATTAACCCAAACACTACAGAAAATATGTAAACATTTACAATTAAAAATGTGTCTACTCTTTGACCTGCAATGCTCACTTTCATGCATCTATCCTACAGAAATAAAAGCACCAGTGGGTTGTATCCAAGAGCAAGGATGTTAATTAGCAGAGTTTCTAGTGGCCCAGAACTGGAAGTAATCTGAATGCTTATCGGTGGAGGAATGGTTGAAAAATTGGTCTATTCACAATATGAAATGTTTTGCAGCTAGTGAAAGATTTAGATCAAGAAAGATGTGCACTGATCTGTGTTAAGTGAAATAGGTAAACTATAGGCAATTAGGTAAAGTGTGTCTCACTTTTATAAAAAAAGCACAAAAAATATATATGTACATACACACTGTATTAGTTTTCTGTTGCTGCTGTAACAAATTACCACAAACTTGGTGGCTTAAAACACAAATATATTCTCTTCTAGTTCCGGAGGCCAGAAGTCAAAAATCAGTCTCACTGGCTAAAGTCAAGGTGTCAGCAGGGCTGGTTCCTTCTGGAGGCTCTAGGAGAGAACCCATTTCTTTGACTTTTCAGCTTTAGAGGTTGCCTGTATCCCTTGCCTTTTGACCCCTTCCTCATATCACTCCAACCACTTGCTTCTGCTGTTACATTTCCTACTTCCTCCTTTGACCTTGCCTCT
TGTGAAAGGTTCAGCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGAGGAGGGGCTCTGGGGCTGTTACCCGCTCCTCATCACTGACCTTTCCCAGCATCCAGGCCCGGCATTCACTCAGGCTATTATCTTGCCTCAGGTAGTGAGTTGCAGACTGCTCAAGTTCATGACTAGCCGCATGGCTCCCTGCACAGCAAATTGCTTTCCTTCCCCCAAAGGCTATGGGACAAATTCTCTGAGCTCAGTCTGTGAGTCAGCAGTTTTGAGGATAGAGGCCAGAGGGCTATGAAGGGCCCCAGTTTGAGCACGTGGCAGGATGTCTGGTTGGAGTGTCATTCAGGAAGTTGGAGCTGTTGAAACTCTCAACCTGAAGCAGAGAGAGAGGCTGGCTCAGCCTGCGGCCCAAAGCACAGCCCTCTTCCTTGTGCACAGGTCTCCTCTGCTGGGCTACCTGGGCACCTGTGAGCTGAGGGGCCAGTTGACCCTGCCCCTGGGGTACACTGCCTCTCTGGAACAGCTCCTGCTGTCCGGGGAGAGTCCTTTGCTGCTGGGCTGCTTGGGCTAAGCTGACTGGAGGATGGGGTTGGGGACAGGGGCCGAGTCACCTGCCTCCTCCCAGCCCCTCTCACTCCCCACTCTCATACACTCATGGGACTGTGCTATGTTTTGGCAAACCAGCTGTTGTGCAAACCATATGTCTTTCAGGGATATCATGTCTGGTTGACTGATGGTGCCCTTTCTTGTTTTTTTTTTTTTTTGTTATGGATTTATTCTTTTGAAAAATCTCTCAGCTATTACTTCTGTGCAATGGGACTGAAGATGGGAAGCAGCAGCTAAGGCTCCACCTGCCCTGTGGACTGTTCTTCCTCTCCTCACCCTTCACCATGACTGTTGCTAGTCTAGGCTGTTGGTATTGATGAATATCCAGCATTTTTTTTTTTTGAGGAGACATTTAGGAAGATAAAACAGGCAGACTGTCCCAACTGGTTTTTCTTTCAGATTTTTAATTCTCCGAATGGTAGATATGCCTACAGCTTGCTGGCTAGCCCATTCAGTTCATCATAATCAACAAGCACTGATATGCATCTGCAGTGTGCAAGCCCTTGTCCTTGGCACTCGGGCAGAGTCCAAGAAAATGAGGACTGGGCTGGGGCTGTCCTGGAATGTCCACAGTCTAGCAAAGATGTGCACACACATAACTGGAGCACCAGTGGGAAGCGAAGCCTGCCCCAGAAGGATTCAGGGGAGGGGATTTGGAGGGGGAAGAGATCCTGCTAGAGAGAGCAGGGAGGGCTTCAGGGAGGAGCGGGCCTCAAAGAGTTGCCAGGATTTGAATACACAGGGACAAGGGAGAAGTCAATCAGTATAGGCGTGGTGAGGGAGCCTGTGGGAACTCGGGAATGGCAGTTGTGTGTGGGAAAAGTGGGGAGCCTGAGAAGGGAGGTGGTATCAGCCACTTGGTGTTCACATTCCACTGTCAGTTTCAGAAAGTCTGGACTCCTGATTTCTTATTTGTTTCTCAGCTGAGGGCTCTAAAAACAAATCTTCAGTGAGGATATTTTATATTGCATTTGGTGCTGCCATTGCTGGCTGCAGGCTGAGCTCTGGATGTGTAAACAGTATTGTGTGCACACTCGTGGCTCCAGTGCTTGGAACAGTCCATTCTTCCTGAGGCATGTGGGTTGCTGATGGGATCTGTTGGGTCTTTCCTCTGCAGGAGACTACACAGACTTCTATTCCTCTCGGCAGCATGCTACCAACGTCGGAATCATGTTCGGGGACAAGGAGAATGCGTTGATGCCAAATTGGTATGAACTGGGCCAAATGTCTGCATAAGTTCAAAGTCTTTCTTTTCATTTCCAGCAGCATATTTGTCTCAGGAGCTGCCAAGTTCTTCTTAAAGTAAACTGGGGAGGAAAAGCAGTTATGATGTTGCAACCTCTGGAAGCAGTGGTCTCAGCTTCTGGTCTCCTGCTCAGCTTGGCTTAGGACTTGCTGTGGGATCGAAGGGCAAGTCCCTTAAACTTCCTTGGACAGCAGGGGTTGGAATTAGATTCCCTTAATCCCTATGCTCCTTCTGGAGTCTTTCATTTATAAGCTGTGTATTATTGTACTATGGGCAAGTCTTAGACTCTAGCATGCTCCATACTTACATTTTCTGATGAATGAGAATCCTCAAATGTGCCCAGTGCTGTATATTCCTCAACATGTGATCGGTTTCATTCATTTGTTTGATCCTCGTAGTAGTTCTCTGATGTCACAAGGCCATGATTGTAAGCCCCATTTTACAGACAGGAAAATGGGCTCAGAGAAGGATCAACTTGCCTGAGCACAACAGGGCCACAGCCTGTCTCCCAGCCCCCAGATCAGGCCATTGACCAAGCTGAGGATGCAGAGCTGGGATCCTTGCCCTTTGTTCTGTGTTGTCCCCTGGATGTGATGGTTCCTTGGAACTGAAGAGGGCCTGGACTCAGTGGCAGGCATACACTCCAGGCCCCAGTGCCATCAGTCACACACAGGAGCTGGGTTAGGGACGGGGCTTTACTCTCTCTCGAGTGAGTGTCTCCAGTAGGCTATGCCATGAGGGGAGGGTCTGTTAGAACCAAGATGAGGAAGAAAGAAAGGGAGAGAGAGCAGTTCCAAGCCAGAGATGTTGAACAACAAGGCCAAGGTTGCAGAATGAGGCAGGGGTGAATCTGAGACCAGAACCCAGGCTCCAGGTTCCAGGCTTCCACGTGAGATGCGCAAATATTTGAGAATCTTGCACTGTACAGGCTCCAGGCTGTATTTGTCCCCAGCCAGCTTCAACTTGTCTATCTGATGGGCTGAGTGTCTATATGAGTGTCCTTGGCAGTGATGACCCAGTGGACTGCCCAGCCCCAGAAGAGCTGGCTGTCACCTGTGTGCCAGGATCCCAGTGGCCAAAGGGCAGGGGCACCAGGAAGTGAGAGGAGAGCCGGGACCTGGGAAATGAGTGTTGACTGTGTCTGAAACCGAGTGTGGGGGCCGCAGCCATCCTTGCCCCATGTCCTTCTGCAGAATAAGAGTAAACAGGCCTTCTCTAGCCATGTTTGATGCAAGATGGCCCACAGCTGTGACTTTTTAGCTTTATGTACATAGTCTTTATTATAAAGGTAACATATATTTACTGGAATTAACCCAAACACTACAGAAAATATGTAAACATTTACAATTAAAAATGTGTCTACTCTTTGACCTGCAATGCTCACTTTCATGCATCTATCCTACAGAAATAAAAGCACCAGTGGGTTGTATCCAAGAGCAAGGATGTTAATTAGCAGAGTTTCTAGTGGCCCAGAACTGGAAGTAATCTGAATGCTTATCGGTGGAGGAATGGTTGAAAAATTGGTCTATTCACAATATGAAATGTTTTGCAGCTAGTGAAAGATTTAGATCAAGAAAGATGTGCACTGATCTGTGTTAAGTGAAATAGGTAAACTATAGGCAATTAGGTAAAGTGTGTCTCACTTTTATAAAAAAAGCACAAAAAATATATATGTACATACACACTGTATTAGTTTTCTGTTGCTGCTGTAACAAATTACCACAAACTTGGTGGCTTAAAACACAAATATATTCTCTTCTAGTTCCGGAGGCCAGAAGTCAAAAATCAGTCTCACTGGCTAAAGTCAAGGTGTCAGCAGGGCTGGTTCCTTCTGGAGGCTCTAGGAGAGAACCCATTTCTTTGACTTTTCAGCTTTAGAGGTTGCCTGTATCCCTTGCCTTTTGACCCCTTCCTCATATCACTCCAACCACTTGCTTCTGCTGTTACATTTCCTACTTCCTCCTTTGACCTTGCCTCT
Task1_train_21768
A genomic change on Chromosome 15 affects FAH (fumarylacetoacetate hydrolase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Tyrosinemia type I
GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACAACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
Task1_train_21769
This mutation is located in gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; FAH-related disorder
GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACAACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
Task1_train_21770
Gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Tyrosinemia type I
TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCAGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
Task1_train_21771
A variant on Chromosome 15 in gene FAH (fumarylacetoacetate hydrolase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not specified
TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCAGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
Task1_train_21772
This alteration in FAH (fumarylacetoacetate hydrolase) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Tyrosinemia type I
CTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATGTTG
CTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGACATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATGTTG
Task1_train_21773
A variant was discovered in gene FAH (fumarylacetoacetate hydrolase), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Tyrosinemia type I
CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTTTTGTAGCTGGCATCTTTGTTTTAGTGTTAGATCTGTGAGATTCAACCCTGTTGCTCTTTGCAGTGACAGCTCATTTTTCTCATTGCCTTATAGTGTTGCACTGTATAAATATTCCACAACTGACTTAATTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAACTGACTTATTTTGTAAGTCACATCAATTCCACAATCGATGGACATTTGGTTGTTTCCGTTGTTTTTGGCTATCACAGAGTTACTGTGAACATTTTAGTACACACCTTTTGGTGCACATATGTGCACATTTCTATTGAGTGTATATCCAGTAATAGGCTTGCTGGGTCATAGAGTACACATAGACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGA
CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTTTTGTAGCTGGCATCTTTGTTTTAGTGTTAGATCTGTGAGATTCAACCCTGTTGCTCTTTGCAGTGACAGCTCATTTTTCTCATTGCCTTATAGTGTTGCACTGTATAAATATTCCACAACTGACTTAATTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAACTGACTTATTTTGTAAGTCACATCAATTCCACAATCGATGGACATTTGGTTGTTTCCGTTGTTTTTGGCTATCACAGAGTTACTGTGAACATTTTAGTACACACCTTTTGGTGCACATATGTGCACATTTCTATTGAGTGTATATCCAGTAATAGGCTTGCTGGGTCATAGAGTACACATAGACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCTGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGA
Task1_train_21774
Here’s a variant in FAH (fumarylacetoacetate hydrolase) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Tyrosinemia type I
ACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGAGCCCACCTAGACAATCTCCTCATTCTAAGATCCCAACTTAATCACATCTCCAGAAAATTTACTATATAAGGTAACATTCACAGGTCCTAGGGATTTGGCCGTAATTTAGTCCACTCCAGAGCTCTTGGAGAGCAAAGTTTAGTCCAAGTAGCAGCCACATAGTGCATGCCCAGTGTGGCTGTTGGTTAGTTCTTTGAATAAAGTGGATTTGGTAGAGAAGATGCAGGCAGAGCTCAAAACAGCAGATGATACCCATTATTAATCAATAAATACCCATTTTGCTCCCATTTCTGCAGCCTAATTATACCTCTCTAATTTGAATTTGACTATTTACTGAACATCTGCTAGGAGCCAACCATATTGCAGGCATGTCCACCTTCCTTATTTCATTTTCTACTCACAATAGCCCTTTGATGATATAATATCATTGCCCCCATTTTGCAGAGTCGAAAACTTAGGCTGATAGAAGGCAGGTTACTTGACAAAAGTCCCACAACTGGGGAAGCCAGTCTGCAACTGAGGTCTTCTGATTCCCCTGCCAAGTTTGTTTCTAGTCTTTCTGCAATGCTTGCCAGACCTACCGCAGGCCTTTGGTCACGGTTCTGTGGATTGAGTGAAAGCATTTTCTGAAGTTTTGATTTGGGGAAAGGAAGGAAAGAGATGGTGGCAGAAGAGAAAATGATGGCTTTAACTCTCTGTTGTCAGTGTGATAAGGGCCCCTGACTAAGCCATGCTAGACCAGGCAGCTGTCCAGGGCCTGGGAGAAAGGAGGCTGGTATCTAGCAGTTGGAATGCACATGTGTTCTTGACATTTGAGCCAGAGAAGGAAGGAGAAAGGAGCCAAGATGCCATGAGAGTCATTTCCATGTTTGTTTGTGTATACAACGCCTTACTCCGGAAGGATTTTTGGAGGCCAGCAGAGGAATTCAGGG
ACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCGGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGAGCCCACCTAGACAATCTCCTCATTCTAAGATCCCAACTTAATCACATCTCCAGAAAATTTACTATATAAGGTAACATTCACAGGTCCTAGGGATTTGGCCGTAATTTAGTCCACTCCAGAGCTCTTGGAGAGCAAAGTTTAGTCCAAGTAGCAGCCACATAGTGCATGCCCAGTGTGGCTGTTGGTTAGTTCTTTGAATAAAGTGGATTTGGTAGAGAAGATGCAGGCAGAGCTCAAAACAGCAGATGATACCCATTATTAATCAATAAATACCCATTTTGCTCCCATTTCTGCAGCCTAATTATACCTCTCTAATTTGAATTTGACTATTTACTGAACATCTGCTAGGAGCCAACCATATTGCAGGCATGTCCACCTTCCTTATTTCATTTTCTACTCACAATAGCCCTTTGATGATATAATATCATTGCCCCCATTTTGCAGAGTCGAAAACTTAGGCTGATAGAAGGCAGGTTACTTGACAAAAGTCCCACAACTGGGGAAGCCAGTCTGCAACTGAGGTCTTCTGATTCCCCTGCCAAGTTTGTTTCTAGTCTTTCTGCAATGCTTGCCAGACCTACCGCAGGCCTTTGGTCACGGTTCTGTGGATTGAGTGAAAGCATTTTCTGAAGTTTTGATTTGGGGAAAGGAAGGAAAGAGATGGTGGCAGAAGAGAAAATGATGGCTTTAACTCTCTGTTGTCAGTGTGATAAGGGCCCCTGACTAAGCCATGCTAGACCAGGCAGCTGTCCAGGGCCTGGGAGAAAGGAGGCTGGTATCTAGCAGTTGGAATGCACATGTGTTCTTGACATTTGAGCCAGAGAAGGAAGGAGAAAGGAGCCAAGATGCCATGAGAGTCATTTCCATGTTTGTTTGTGTATACAACGCCTTACTCCGGAAGGATTTTTGGAGGCCAGCAGAGGAATTCAGGG
Task1_train_21775
Assess the clinical impact of this variant on gene FAH (fumarylacetoacetate hydrolase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Tyrosinemia type I
GGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGACCCTTCTCCTTCAGGACCATGGTTGGGAGAGACTCTTTAAAAATGCTGCAGTTCCGAGTTAGTTGTTTTGATAGATGTTTAATAAATTTCTGCTGGGAGCCAGTTTTACTTTAATAGGCTTTTTTTTTCACCCCAGTGGTGTGGATATTTCTGAGCATTGAGGTGGAAAAGAGACTGACAGAAAATAATGAAAATGAGCAACAGAATAGGTGAGGTCGTTGCTCTCGACAAAGGGCATCCCTGCATGTTGTCAGCATGTGGGTCACGGGGCTTCTTAGGGCCCCCCAAAGGACAGCCTCACTGAACAGATGTGACAAATGCATCTCGTGCCTGAGTGTCTGAGCCTTTGCACGTGTTCTTCCCTCTGTCTGGAATGGCATTTTCATGTGTCTTCCCTAATGAACTCCTAGCTACCCGTCAAGGCCCAGCTAAGATATCCCCCCTTCCTGCTCCCTTTCCCTCCATGCTGCTCGCTCAGCACCTTGTAAGCATTTCTCTGTATCTCTCGTCTGGACCTCCCACTCCCTCTAAGTGGACCCCTCTCAAGGGCAGAGATGGGCTTCTCTCTGCTTTTCCATCATCCTTGTTGAAATGGAATTAAATGAAGGAAACTAATATTTATTAGTTTCTGAGATGTGCTGGGAATTTCACTGAAATATTTAGTCTAATCCTTACAACCTTGAGAGATAAGCGTTGTTTTTCTTGTTTGCAGATGAGGGAGGTGAGTTCTGAAGTCAAACAGCTTGTTCCCAGCCACCCAGCTCATAATGGTTGTAATGACTGACACTTACAGGGAATTTCAAATAGGGACTGGAGGCTGTTCTCAGAGTTTTCTATGCATTTGCTCCCATCATCCTTGCAGCAGTCCTGTGCGGTGGGCACTATCATAAGATCCATTGCACAGATGAAGAAACTGAGGTCTAGAGGGACCCAAGGTTACAGAGCCAATAAGTAGAGGAGCCAGGCTTTGACCTCAGGCATTCTGGCTTCAGGCTAATTGGCAGAGCGAGGATTTGAACCCAAACCCATGTGGGGAGAGTTGACCACTGTATTAGTCTGTTTTCACACTGCTGATAAAGACATTCCTGAGACTGGGTAATTCATAAAGAAAGAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATAGTGGAAGGCAAAAGGCATGTCTTACATGGTGGCAGGCAAGAGAGAATGAGAGCCAAGTGAAAGGAGAAACCGCTTATAAAAACATCAGATCTCATGAGACTTCTTCACTACCATGAGAACAGTATGGAGGAAACCGCTCCATGATTCAATTATCTCCCACTGTGTACCTCCCACAACACATGGGAATTATGGGAGCTATAATTCAAAATGAGGTTTGGCGGGGGACAGAGCCAAACCATATTAGCCACAGGAAAGCTGTTGAGCCTTGCAGTGCCTCTGAGGATCCCTGGCTGTGGGGTGGGCCCGGGTTCTAGTCCAAGGGCTCCTGCGTGCAACTCTGCCCAGCTTCCGTGGAGGGTTATTCTTGTGTTTAAGATATGTGTGTGTGATTCTGATGGCACCTTCCTGCCTCGGGCCAGCTGTGTGCTGACGGGCACTGCCGCTGCCTAGGTGTTGGTTCCGGTGAGCCCAGCAACTTTGTGACTGATCCTTGTCCTCCTCTGTTCCAGGGTACTGCCAGGGGGATGGTTACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGTGCTGCCTGCTCTCCTGCCATCATGAGATTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACCCCTTTCAACCCTGTGACTGGGGTCCTCCCTCGGGCTGTAGGCCTGGTCCGCCATTCAGTGACAAATAAAGCCATTGTGCTCTGAGGCCTGCACTGCCGCAGATGCAGCTGTGTCCACTTATGATCGTGATTTGATCCAGTGGGTCAAGGTGTGTAAAGCCTCCCTGCCAGATATTCATTAATATGTTTTCTCACTCTTATTAGTGAGGTCAGGGGTCTTTGTGGGATTTTCTTATTAGACATCCCAGGCCTCCTGGTATTCCATGGAATTTGAAAAGAGACTGGCACCTGTAGTAGTCAGGGCTCTCCAGAGAAATAGAACCAAGGAGAAAGAGATCGATTTATTGATTGATTGATTGATTTTAAGCAAATTGGCTTCTGGGATTCTGGAGGGTGGCAAGCCCAAAACCTGCTGGGTGGGTTGCTGGCTGGAGACCCAAGGAAGAGCTGCAGTTTGAGTCTGAAGCAGTCTGCTGTCAAAATTTCCTCTTCCTCTGGGAAGTGAGTCATTGTTTGGTGAAGGCCATCAACTGATTAGATGAGGCCCAGCCACACTGTGGGGGTCTTCTGCTTTACTCCACTGATTTAAGTTTTATTTCACCTAAAAAGTACTTTCTTAGAAACATGTAGAATAGCATTTGAGCAAATATTTGGGTACCTTAGTCTAGCCAAATTAATACAGAAAACTGCCCATCACAGCACCCTGCATGTCCAGTGTTTCTTGGGGCTAACGGATGAGCACATATGGGTTGTAGGCTTGGTTCATGGGCCCCGTGGCTGCGTCTCCACACTGTAAGCCTTGGGAAGAGCCTCCGAGTCATGGGTGAGCACCTGAACTGTGATGATGGCAGAAAAGGACCTAGCTTTTCACCTCTTGCAAGCCCACCAGAGTCAGGAGAGTGAGCTCTGCCCCATCTCTTCTGTCCCAACCCATTGCACACAGGCAGCCCTGGTTCTACCCTAGTTCCTTGGTGATGACAGCAGGGGAGTATGCCCTGCGACCTTTCCTGGGCCTGATGAGCCTTATACCGGGGCCTAGGGGGATAGTTGAGGATGCAGAGCCCATCCGTCAGATCGCACCATTCATTCATTCACTCAACAAATCTTTATTGAGCACCTTCTGTGTGTTAAGCACTGTTCTAAGGATGAGAGGCACAGCAGTAAACAGAATAGCCCATTTGAAGCTTACATTCGAGTGGAAAGAGATAGACAATAAACAGATAAGGAAAAGACATGTGGTATGACAGATGGTAATAAGTTTTATGGACAATTGGGAGATGTGGATGCTATTGTTAATGTGGTTAGAGAAGGCCTTAATCCCATAGTACATTTCTGCTAGAGAGCTGAAGGAGTGAGGGGAGCAGGCCAGATGGATATCTGGGGACAGAGTCCTCCAGGCACAGGAATCAGCCCGTGCAAAGCCCTGAGGATGGAATATGCTTATCATTTCTAAAGAACATCAAGGAGGCTGGTATTTCTTCCTTACATAAAAGCAACCTGGGGTCAGGAAGGCTGGAGTTAGTGTGGCAGCTGCACAGTGTCATTAAAGATACCTCTGCTCTGCCATCGTCGGTATGTGGTTTTTAGTCTCAGGGTTACATTATGATACAAAATGGCTGCTGGAGCTCCAACTAGTACATCTAAGTTCCAGGCCAGCAGAAAGAGACAACAAAGAGGTGAGGACTGGGAGGATGGAAGGGCAGAAGAGCCCTCCTTCCTCCTGAGTTAGGTCATTTTAAGCAGCTTTCCTGGTAGTCCCATACCACACATGTCTTAGATTTCATTGATGAGACACACCTCATTACAAGAAAGCCTGGAAATGTAGTCTTTCATCTAAACACATTGCTTGCCCTGTGAAAATTAGTTTGATTGCCCTAAAAGAAGGGGAGAATGGATACTGGGGGACAATTAGTAGTCTCTGCTACACACAGGCTGGGAAATATCATGCTCTGAGGCTGAACTGCTCCCCGTGGACTTTACTTC
GGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGACCCTTCTCCTTCAGGACCATGGTTGGGAGAGACTCTTTAAAAATGCTGCAGTTCCGAGTTAGTTGTTTTGATAGATGTTTAATAAATTTCTGCTGGGAGCCAGTTTTACTTTAATAGGCTTTTTTTTTCACCCCAGTGGTGTGGATATTTCTGAGCATTGAGGTGGAAAAGAGACTGACAGAAAATAATGAAAATGAGCAACAGAATAGGTGAGGTCGTTGCTCTCGACAAAGGGCATCCCTGCATGTTGTCAGCATGTGGGTCACGGGGCTTCTTAGGGCCCCCCAAAGGACAGCCTCACTGAACAGATGTGACAAATGCATCTCGTGCCTGAGTGTCTGAGCCTTTGCACGTGTTCTTCCCTCTGTCTGGAATGGCATTTTCATGTGTCTTCCCTAATGAACTCCTAGCTACCCGTCAAGGCCCAGCTAAGATATCCCCCCTTCCTGCTCCCTTTCCCTCCATGCTGCTCGCTCAGCACCTTGTAAGCATTTCTCTGTATCTCTCGTCTGGACCTCCCACTCCCTCTAAGTGGACCCCTCTCAAGGGCAGAGATGGGCTTCTCTCTGCTTTTCCATCATCCTTGTTGAAATGGAATTAAATGAAGGAAACTAATATTTATTAGTTTCTGAGATGTGCTGGGAATTTCACTGAAATATTTAGTCTAATCCTTACAACCTTGAGAGATAAGCGTTGTTTTTCTTGTTTGCAGATGAGGGAGGTGAGTTCTGAAGTCAAACAGCTTGTTCCCAGCCACCCAGCTCATAATGGTTGTAATGACTGACACTTACAGGGAATTTCAAATAGGGACTGGAGGCTGTTCTCAGAGTTTTCTATGCATTTGCTCCCATCATCCTTGCAGCAGTCCTGTGCGGTGGGCACTATCATAAGATCCATTGCACAGATGAAGAAACTGAGGTCTAGAGGGACCCAAGGTTACAGAGCCAATAAGTAGAGGAGCCAGGCTTTGACCTCAGGCATTCTGGCTTCAGGCTAATTGGCAGAGCGAGGATTTGAACCCAAACCCATGTGGGGAGAGTTGACCACTGTATTAGTCTGTTTTCACACTGCTGATAAAGACATTCCTGAGACTGGGTAATTCATAAAGAAAGAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATAGTGGAAGGCAAAAGGCATGTCTTACATGGTGGCAGGCAAGAGAGAATGAGAGCCAAGTGAAAGGAGAAACCGCTTATAAAAACATCAGATCTCATGAGACTTCTTCACTACCATGAGAACAGTATGGAGGAAACCGCTCCATGATTCAATTATCTCCCACTGTGTACCTCCCACAACACATGGGAATTATGGGAGCTATAATTCAAAATGAGGTTTGGCGGGGGACAGAGCCAAACCATATTAGCCACAGGAAAGCTGTTGAGCCTTGCAGTGCCTCTGAGGATCCCTGGCTGTGGGGTGGGCCCGGGTTCTAGTCCAAGGGCTCCTGCGTGCAACTCTGCCCAGCTTCCGTGGAGGGTTATTCTTGTGTTTAAGATATGTGTGTGTGATTCTGATGGCACCTTCCTGCCTCGGGCCAGCTGTGTGCTGACGGGCACTGCCGCTGCCTAGGTGTTGGTTCCGGTGAGCCCAGCAACTTTGTGACTGATCCTTGTCCTCCTCTGTTCCAGGGTACTGCCAGGGGGATGGTTACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGAGCTGCCTGCTCTCCTGCCATCATGAGATTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACCCCTTTCAACCCTGTGACTGGGGTCCTCCCTCGGGCTGTAGGCCTGGTCCGCCATTCAGTGACAAATAAAGCCATTGTGCTCTGAGGCCTGCACTGCCGCAGATGCAGCTGTGTCCACTTATGATCGTGATTTGATCCAGTGGGTCAAGGTGTGTAAAGCCTCCCTGCCAGATATTCATTAATATGTTTTCTCACTCTTATTAGTGAGGTCAGGGGTCTTTGTGGGATTTTCTTATTAGACATCCCAGGCCTCCTGGTATTCCATGGAATTTGAAAAGAGACTGGCACCTGTAGTAGTCAGGGCTCTCCAGAGAAATAGAACCAAGGAGAAAGAGATCGATTTATTGATTGATTGATTGATTTTAAGCAAATTGGCTTCTGGGATTCTGGAGGGTGGCAAGCCCAAAACCTGCTGGGTGGGTTGCTGGCTGGAGACCCAAGGAAGAGCTGCAGTTTGAGTCTGAAGCAGTCTGCTGTCAAAATTTCCTCTTCCTCTGGGAAGTGAGTCATTGTTTGGTGAAGGCCATCAACTGATTAGATGAGGCCCAGCCACACTGTGGGGGTCTTCTGCTTTACTCCACTGATTTAAGTTTTATTTCACCTAAAAAGTACTTTCTTAGAAACATGTAGAATAGCATTTGAGCAAATATTTGGGTACCTTAGTCTAGCCAAATTAATACAGAAAACTGCCCATCACAGCACCCTGCATGTCCAGTGTTTCTTGGGGCTAACGGATGAGCACATATGGGTTGTAGGCTTGGTTCATGGGCCCCGTGGCTGCGTCTCCACACTGTAAGCCTTGGGAAGAGCCTCCGAGTCATGGGTGAGCACCTGAACTGTGATGATGGCAGAAAAGGACCTAGCTTTTCACCTCTTGCAAGCCCACCAGAGTCAGGAGAGTGAGCTCTGCCCCATCTCTTCTGTCCCAACCCATTGCACACAGGCAGCCCTGGTTCTACCCTAGTTCCTTGGTGATGACAGCAGGGGAGTATGCCCTGCGACCTTTCCTGGGCCTGATGAGCCTTATACCGGGGCCTAGGGGGATAGTTGAGGATGCAGAGCCCATCCGTCAGATCGCACCATTCATTCATTCACTCAACAAATCTTTATTGAGCACCTTCTGTGTGTTAAGCACTGTTCTAAGGATGAGAGGCACAGCAGTAAACAGAATAGCCCATTTGAAGCTTACATTCGAGTGGAAAGAGATAGACAATAAACAGATAAGGAAAAGACATGTGGTATGACAGATGGTAATAAGTTTTATGGACAATTGGGAGATGTGGATGCTATTGTTAATGTGGTTAGAGAAGGCCTTAATCCCATAGTACATTTCTGCTAGAGAGCTGAAGGAGTGAGGGGAGCAGGCCAGATGGATATCTGGGGACAGAGTCCTCCAGGCACAGGAATCAGCCCGTGCAAAGCCCTGAGGATGGAATATGCTTATCATTTCTAAAGAACATCAAGGAGGCTGGTATTTCTTCCTTACATAAAAGCAACCTGGGGTCAGGAAGGCTGGAGTTAGTGTGGCAGCTGCACAGTGTCATTAAAGATACCTCTGCTCTGCCATCGTCGGTATGTGGTTTTTAGTCTCAGGGTTACATTATGATACAAAATGGCTGCTGGAGCTCCAACTAGTACATCTAAGTTCCAGGCCAGCAGAAAGAGACAACAAAGAGGTGAGGACTGGGAGGATGGAAGGGCAGAAGAGCCCTCCTTCCTCCTGAGTTAGGTCATTTTAAGCAGCTTTCCTGGTAGTCCCATACCACACATGTCTTAGATTTCATTGATGAGACACACCTCATTACAAGAAAGCCTGGAAATGTAGTCTTTCATCTAAACACATTGCTTGCCCTGTGAAAATTAGTTTGATTGCCCTAAAAGAAGGGGAGAATGGATACTGGGGGACAATTAGTAGTCTCTGCTACACACAGGCTGGGAAATATCATGCTCTGAGGCTGAACTGCTCCCCGTGGACTTTACTTC
Task1_train_21776
Consider a variant on Chromosome 15 in gene EFL1 (elongation factor like GTPase 1). Determine its clinical classification and disease relevance.
Pathogenic; Shwachman syndrome
TCTGGGAAAAGGCATTATGTTGGTGTTGCCTATGCCTGTCCCCTGAGCAGAAGGATAGCTGCCTCTGGACCTCAATACAAATAATTCTCCAGGAGTGAGAGCCGTGGTTTTGTGGCTTCCTCAACCTAGCCTTCCTCACTGTCTCTGAAGCCTATCTATAAATGAGTGTACAAAGCCAGCCCCTCTGTAAGAACAGGAACACTCTCACTTCTACTTGTGGACTGACAACATTTTGCTTGGCTTCTACTGAATTCAACAAACAGAGGCTAGGGTTTGGACATGGCATTGGGCACAGTACAAACGTAGTCTTACTATGCTGTCACAGAAGGGGACAGGGTTTCAATGACTGAGGTCTCGTCATGAATTACACAATAAGGTAGATTATTTAGATGGTAGATTGGCTCTATCCCTTGGTCTGCCTCTTTGTGGCCACTTTCCTGCTCATTATTACCTCTCTCAAACATGGAGAAGGAAGACAGACAATCTATCAACTCGACATGTCACTTCCCCCACACTGGCACATCTGTCAGGGCCCAACAGACTGCAGAAAGTGCAACTTTTTCTCCAACTTTTTCTGGGTTATGCCTCTTTTCTCTATTAAATGCAAAATGTGCTGATCTAAGTATACATTTTATAGCACATCTGGCAGTTTGAATGATGTTATTTACAAATGCTATAAATCGAAGTGCTAGTTTTTCCTATGTTATCAAAGTTTTCAAATAAACCAATAGATGATATAACTCTCCTAAACTAACTCATATATTATTATCTGTTGAAATTAAACAGACAGTGAATTATCCAGTCACATTTTCCCCAAAGTCTAGGCCAATTAGATTTGACCAGCTATGCCAGGGCCCTGAAGATTTAGAGATAAAATGTCTACAACTAGTATTAAAAATGACCTAGTTTATTAAGAAAACCCATTAAAGTATTTCAAAAACAAAGTCTGGTCTGATAATTTTATGCTATGAAAAGGAATCCTTCTTTTAAGTGGCTATAAAAATTATTATGCAACATCAAAAAATATAAAATCTATTTTTGTCTGAACTGCATTTGCTCCTTAAATGAAGATCACCCTGAAGGAGGCAACTGAGATTTAGAAAAAATATTTACAATAAAGCCATAACCTCATGCACATTAGCTAAGTAAGGCTAAAAGGAAATAGCAAATAAAATTATAGAAATTTACCTTTTTTTAAAAAAAAAGAAAAAGGTACAGGGATAACACCCATTAACACTGATTTAAATAGGAATGATAAAATTTATGAGTGGGTGTAAAAGCAGAAGATTTACAGGCTAACTATTGAACATGATACTGTTTTGCTAGACAACACCATAAGATGGATGAGCTGTAACAGTGACTTGGTTTAACTAAAAAGCAGCTGCTCTCTCAAGTATGCGGTCTCTCCAAACAATGTTAAATGCTCTGATTCACTGATTAAATATGAAATGTTTCCACTCCGAAATTCACACATGATGTTTATGTGGAGGATGTACTCAGAATTATGACACTGTGATGACAGGCAGAGACAGTGTGAGCCCCGGAGTGGCCGCTCAGTGCAGAGGAGACTGCCCACTGTGGGTCTGCACATCACCTCCCCACCACCAAGAGGGTAGCCCTGACCACACGTCTTACTGCTGGGGGTTATACACAGGGCAGTCATAAATCATCACTGCAATATTTATAACTTCTTGCCTTGAACCAGAACCAATTAAAAACACACTTGGAAAACATGTTCTCTAACATCCTCTTTAAAATATTTATATGGATCAACTTTATTGAAAGTGAATAAACAGAGATAATGTGGCAAAAAGAAATTTTCCCAATATTAAACCCTTGATGATACTTTTAAATTCACTATAAGGAAAAGAATCCACCAGTAGTAGGTAGCTACTTATTTTTGCTGAGTGTCCTCTGCTTTTCTGCATGCTCCACAATCTTTTCTTCCACATAAAGCCCCTTCCGCTTTCGTACTGCGTTCATGTACTTCCGGGCTTGGTTCTCAGAGTCAGCCTTCTCCCCAAAGTGCAAGTATTCCTCCTCAGTAGTTGGCACCCAGAAGGGGTCACTGGGAATGATCTTGTAAAAGAAGATGACAGAATGTGCAAGGTTAGGCATTTTTAATTTCAAACCTTATTCACTGAGCTCCCCAATTTATATAGTCTTAGCTAATGAAAAAAAGTTAGGCAATGAACAGCTAAGCTTGCTAGGAATGGTAATAAGTATGAAGAATCGGCAGGGTGTGGTGGCTCACGCCTATAGTCCTAGCACTTTGGGAGCCAAGGCAGGTGGATTGCCTGAGCTCAGAAGTTCGAGACCGGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAATACAACAACAACAACAACAACAAAAATTAGCTGGGTGGGGCGGCATGTGCCTGTAGTCCCTGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCAACTTAAAAAGAAAAAAAAAAGTATGAAGAATCATGGGAGGTGTGAACAAATGGAAGTAGATTCAACAAAACTTGTAACATACATTATTATTCTTTGCTCCTAGCGCCAGTTCATAACACTAAGGAAGAAAGAAAACTATTAATTTTTCATAATATAATTTTTAAAAGCTTTCATTTTTGCTAGGATATATCTGAATGTTAATGTCTTTGCCATCAATATTTTGCCTTTGTCCTCAACCTCAACAAAGATCAACACATGTAACTACACTCTTATTATTATTACATATATTTTTTTATTTAAGAGACAGAGTTCTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGTGCAATCATACTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTCCTCCCTTGACCTCCCAAGCAGCTAGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTTTAATTTTTTTTCTGGAGGTGGTGGGTGCATGACATTGTGAATGGGAAAAATGCAGCAAAATGTTTATTTAAAATGTTCAAGTTTGGGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCTTGATGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAGAAAAAAAAAAGTTCAATTTTATGTTGTATGAATTTCACCTCAGTACATTATTTTTAAAAAGAGAGACTTAAAGAAATTTCCCTGAATACAGAATACGGCACAGAGAGATGGAGATTAAAAAAAAAGTCTCAAAGGAAAGTCAAGAGCCATCAAGTATGTATAGGGTATATCTAACAGGAGTTCTAAAACCAAAAAACAGAGAACAGGATGAGAGTCTTCAGATGGAAAAACCTCACTGAGTCTGGACCAAGATAATAAAATAATCCACCCCTTGTGACAGTGTTGAAATGCTGGAAATCTGTGGGCACCTGCATCTCCTGAGGCTCGATTCTGACCCACTAGACACTATAGAATGGGAGGTGTGAGCCACAACTGTGCTTCTTGCTCTTGAACAAAGGTTGGAAACAAAGCAGCTGCCTGTGTCCTGGTGCTGAGGCAGGTACAGAGAAAATCAGAGAGAAAAGCCAGATCTAGAGAAGAACATGAATCAGACCAACGAGACGCTTCGCATCAGCAACAGCAGTTGCTGGGACACAATGAAGTCCTTCAGAGTGCTAAGGAGCCTCAGTGTGAGCCTACACGTCTTTATCTAGTTAAATAAACCATTATCAGCGAACCAAAAAAAGCCTCTGTTGGACAGACTTTAAAACATATTACCTCTCATGGACACTCAACAAAAGAACTAGAAATATCCTTTCAAAAAAGAGTCCCCGGAAGGAAAAGGCAGACAGTAGAAGTGAGAGCAGCCAGGGGGCACAGAGGCATTATCAGCACTAGAGTA
TCTGGGAAAAGGCATTATGTTGGTGTTGCCTATGCCTGTCCCCTGAGCAGAAGGATAGCTGCCTCTGGACCTCAATACAAATAATTCTCCAGGAGTGAGAGCCGTGGTTTTGTGGCTTCCTCAACCTAGCCTTCCTCACTGTCTCTGAAGCCTATCTATAAATGAGTGTACAAAGCCAGCCCCTCTGTAAGAACAGGAACACTCTCACTTCTACTTGTGGACTGACAACATTTTGCTTGGCTTCTACTGAATTCAACAAACAGAGGCTAGGGTTTGGACATGGCATTGGGCACAGTACAAACGTAGTCTTACTATGCTGTCACAGAAGGGGACAGGGTTTCAATGACTGAGGTCTCGTCATGAATTACACAATAAGGTAGATTATTTAGATGGTAGATTGGCTCTATCCCTTGGTCTGCCTCTTTGTGGCCACTTTCCTGCTCATTATTACCTCTCTCAAACATGGAGAAGGAAGACAGACAATCTATCAACTCGACATGTCACTTCCCCCACACTGGCACATCTGTCAGGGCCCAACAGACTGCAGAAAGTGCAACTTTTTCTCCAACTTTTTCTGGGTTATGCCTCTTTTCTCTATTAAATGCAAAATGTGCTGATCTAAGTATACATTTTATAGCACATCTGGCAGTTTGAATGATGTTATTTACAAATGCTATAAATCGAAGTGCTAGTTTTTCCTATGTTATCAAAGTTTTCAAATAAACCAATAGATGATATAACTCTCCTAAACTAACTCATATATTATTATCTGTTGAAATTAAACAGACAGTGAATTATCCAGTCACATTTTCCCCAAAGTCTAGGCCAATTAGATTTGACCAGCTATGCCAGGGCCCTGAAGATTTAGAGATAAAATGTCTACAACTAGTATTAAAAATGACCTAGTTTATTAAGAAAACCCATTAAAGTATTTCAAAAACAAAGTCTGGTCTGATAATTTTATGCTATGAAAAGGAATCCTTCTTTTAAGTGGCTATAAAAATTATTATGCAACATCAAAAAATATAAAATCTATTTTTGTCTGAACTGCATTTGCTCCTTAAATGAAGATCACCCTGAAGGAGGCAACTGAGATTTAGAAAAAATATTTACAATAAAGCCATAACCTCATGCACATTAGCTAAGTAAGGCTAAAAGGAAATAGCAAATAAAATTATAGAAATTTACCTTTTTTTAAAAAAAAAGAAAAAGGTACAGGGATAACACCCATTAACACTGATTTAAATAGGAATGATAAAATTTATGAGTGGGTGTAAAAGCAGAAGATTTACAGGCTAACTATTGAACATGATACTGTTTTGCTAGACAACACCATAAGATGGATGAGCTGTAACAGTGACTTGGTTTAACTAAAAAGCAGCTGCTCTCTCAAGTATGCGGTCTCTCCAAACAATGTTAAATGCTCTGATTCACTGATTAAATATGAAATGTTTCCACTCCGAAATTCACACATGATGTTTATGTGGAGGATGTACTCAGAATTATGACACTGTGATGACAGGCAGAGACAGTGTGAGCCCCGGAGTGGCCGCTCAGTGCAGAGGAGACTGCCCACTGTGGGTCTGCACATCACCTCCCCACCACCAAGAGGGTAGCCCTGACCACACGTCTTACTGCTGGGGGTTATACACAGGGCAGTCATAAATCATCACTGCAATATTTATAACTTCTTGCCTTGAACCAGAACCAATTAAAAACACACTTGGAAAACATGTTCTCTAACATCCTCTTTAAAATATTTATATGGATCAACTTTATTGAAAGTGAATAAACAGAGATAATGTGGCAAAAAGAAATTTTCCCAATATTAAACCCTTGATGATACTTTTAAATTCACTATAAGGAAAAGAATCCACCAGTAGTAGGTAGCTACTTATTTTTGCTGAGTGTCCTCTGCTTTTCTGCATGCTCCACAATCTTTTCTTCCACATAAAGCCCCTTCCGCTTTCGTACTGCGTTCATGTACTTCCGGGCTTGGTTCTCAGAGTCAGCCTTCTCCCCAAAGTGCAAGTATTCCTCCTCAGTAGCTGGCACCCAGAAGGGGTCACTGGGAATGATCTTGTAAAAGAAGATGACAGAATGTGCAAGGTTAGGCATTTTTAATTTCAAACCTTATTCACTGAGCTCCCCAATTTATATAGTCTTAGCTAATGAAAAAAAGTTAGGCAATGAACAGCTAAGCTTGCTAGGAATGGTAATAAGTATGAAGAATCGGCAGGGTGTGGTGGCTCACGCCTATAGTCCTAGCACTTTGGGAGCCAAGGCAGGTGGATTGCCTGAGCTCAGAAGTTCGAGACCGGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAATACAACAACAACAACAACAACAAAAATTAGCTGGGTGGGGCGGCATGTGCCTGTAGTCCCTGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCAACTTAAAAAGAAAAAAAAAAGTATGAAGAATCATGGGAGGTGTGAACAAATGGAAGTAGATTCAACAAAACTTGTAACATACATTATTATTCTTTGCTCCTAGCGCCAGTTCATAACACTAAGGAAGAAAGAAAACTATTAATTTTTCATAATATAATTTTTAAAAGCTTTCATTTTTGCTAGGATATATCTGAATGTTAATGTCTTTGCCATCAATATTTTGCCTTTGTCCTCAACCTCAACAAAGATCAACACATGTAACTACACTCTTATTATTATTACATATATTTTTTTATTTAAGAGACAGAGTTCTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGTGCAATCATACTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTCCTCCCTTGACCTCCCAAGCAGCTAGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTTTAATTTTTTTTCTGGAGGTGGTGGGTGCATGACATTGTGAATGGGAAAAATGCAGCAAAATGTTTATTTAAAATGTTCAAGTTTGGGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCTTGATGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAGAAAAAAAAAAGTTCAATTTTATGTTGTATGAATTTCACCTCAGTACATTATTTTTAAAAAGAGAGACTTAAAGAAATTTCCCTGAATACAGAATACGGCACAGAGAGATGGAGATTAAAAAAAAAGTCTCAAAGGAAAGTCAAGAGCCATCAAGTATGTATAGGGTATATCTAACAGGAGTTCTAAAACCAAAAAACAGAGAACAGGATGAGAGTCTTCAGATGGAAAAACCTCACTGAGTCTGGACCAAGATAATAAAATAATCCACCCCTTGTGACAGTGTTGAAATGCTGGAAATCTGTGGGCACCTGCATCTCCTGAGGCTCGATTCTGACCCACTAGACACTATAGAATGGGAGGTGTGAGCCACAACTGTGCTTCTTGCTCTTGAACAAAGGTTGGAAACAAAGCAGCTGCCTGTGTCCTGGTGCTGAGGCAGGTACAGAGAAAATCAGAGAGAAAAGCCAGATCTAGAGAAGAACATGAATCAGACCAACGAGACGCTTCGCATCAGCAACAGCAGTTGCTGGGACACAATGAAGTCCTTCAGAGTGCTAAGGAGCCTCAGTGTGAGCCTACACGTCTTTATCTAGTTAAATAAACCATTATCAGCGAACCAAAAAAAGCCTCTGTTGGACAGACTTTAAAACATATTACCTCTCATGGACACTCAACAAAAGAACTAGAAATATCCTTTCAAAAAAGAGTCCCCGGAAGGAAAAGGCAGACAGTAGAAGTGAGAGCAGCCAGGGGGCACAGAGGCATTATCAGCACTAGAGTA
Task1_train_21777
A variant was discovered on Chromosome 15, affecting EFL1 (elongation factor like GTPase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Shwachman-Diamond syndrome 2
AATGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACACATGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCT
AATGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACCCATGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCT
Task1_train_21778
A mutation in EFL1 (elongation factor like GTPase 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Shwachman syndrome
TGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACACATGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCTTG
TGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACACTTGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCTTG
Task1_train_21779
A mutation in EFL1 (elongation factor like GTPase 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Shwachman syndrome
TGCCTGCTTCCCAGTGTTCACACCTTTGTTTAGAAATCTCCTTCTCGAGTGTGAGTGGGACCTGTGACTTGCTTCTTCTAACAAACGGAATATGGCAAAAGTGATGAGATGTCACACTGTGATTCTATACCATCATACAGGACTCTGTCTTGCTAGGAGATTCCTTCTACTCTCTTATATGGCTTGATGAAGAGGGCCTCCAAGTTGGGAAGGTCCATATGACAAGAAACTGTAGGTGGCCTCTAGGAGCTGAGGGCAGCCAAAGGCCAGAAAAAATCTGGGACTCTTAGTACTGCAGGTGCAAATATATGAATTCTATCAACAACCTTTAGTGAGCTTGGAAGCAGGTTCTTCATCAGTCAGTCCTCCAGATGAGAATGCACCCTGGCCAACATTCTGATTGTGGCTTTGTGAGACCCTAAGGAGAAGATGTGGCTAAGCCATGTCTGGTTTTCCAACCCACAGAAACTGTGGATGACAAAATGTGTAATGTTTCAAGCTGCTACATTTGTTGTAATCTGTAATATGCAGTAGCAGAAAACTAACACAAAGGATGAACACAAATTCTGGGTAGGGGTTACTTTGAAGGTAGGTCTGAAATATTTCAGGTTTTTTTTTAAGCAGTTGGAATTAGGTTTTATGGTGCTCTGGTTACTGAAATAAGAGGCCATTTGAGCTGTCAATGTATTGTATCATTCCTGCTTAAGACATGAGACACATAAGCAACTGATTTCAACCTGTAGCAAAGACACATTATGCAGAGATAAAGTGGATTGTTCATGGAATTTGTAATGCCAAATAAATCAATGTTTCACTAAATAACAATTTCTTGCTCACTTACCTTCACAAAAAAGGAAAAAATTAACTGATACTTGACCCTTACTGATAAATAGCAAACTATCAAGCCAAGATAATCACAGATTACGTAGATGTATAAAAAATCATAGATGAGTTTTTATACATATCACTTTCAGACTCCCATAAAACATAACCCTATACACACCAAGTGCTGCAATCTTTCTTGCTAAATTAGAACATGCCATAGCTCAACAAGGACTGCTTCACTGCCACGCAGCTCTGCACTCTCCAAGGATTAAACTGCTAAAACTCATGGAATAAGCATTCAAGGCAAAGAAAAACTGATGGCAGAGACTTACTTCAACTGCTACCTCCTTCTCTCTCACTTGTAGCCAAGTACCACAGCTTCCCTGGTTTATCTACAGACAGGCTGCTTCCTGCACAGAGAGGAGCATGGGTTTTTGTGCTCATGATGCTCCACGGTGCCAGCTGACAATTTCCTAGCTTACTGCTTTGTGCTGATCCAGACTGGCTGCTTGGACCTCTGGCACTGTCTTCATCCTATGACCTCTATTATTTAATTATGATATAATTATAATGTATATATCTTGCTTACTTCCAAAAATGTTCTGAGACATCTCTAGCCTGTGATCCCTGTTTCGCCCCTTGGCTCAGGCATTTTTAGATGCTGCCTGTTCACCTACTTACAGACCCTCCTGTCCAGACTCAGGGTCTGTGTGCCATGCAACTCCTGCCTATCCCCTGCTCACTGCCCACACCTTTGGCCTAAGCCAGCTAGTTTTTGGATCTTCCTATTTCTCAAAGACCGGCCATTGCCCTGGCTCCAGCATGACATCTGCTCTTATCAGTTCTTTTCTCTAACCACAAGGTGACTCTTGCCTAGAAGAGAAAAGCCTTATAATTAAACAAGGCCTGAAAATTTGGTCCACATATTGGTTTCCTAAATGCTACTAATTGAGACATATATGACAAATGTTATCAAAGCAACACAAAAGGATACACAGTCACTCAAGTGTGCCTTTCCAGAGACAAACTAAATCTACCAACAAGATAATCACCAGTCCCAACAAAATGTGAAAAGATATCAGACCCTCGAGAAACAATATATAAATATTTTACTTTCAATTCTTACCCTTCGTAAAAACTCAAGAGGACTGTATTTGGGCCCCAAGACAAAAATTTTCTTTCCTCTTCGAGCCACACCACTGAACACCCGAGCAAATGCAATAAAAGACTCTTGGTTGTTTTCTTCCTGGAGCACAGGTTTAGGGGTCATACTTTCCACCTGTTGCTCGTCACCTGACAGAAACAAAAAGATAATTAGTGCCAAGAATGCCCTCTTAATTCAAGAACTGTCTGAAATATAGAAGGAGGAGTGAATATGATATCTTTCGTCAAGTTTCAGGAAAAAAAAGAAAACAAAACAAAACAAGAATGGAAAGAATATTGATAAAAACTACGATTAAAGCTTAAAAATCTCAAGAACTAAAGGATGAGTGTCCCAAGTTAAGCAAAAAGGCAAATACTTTGCAACAGAGCCTACTTAGGAAAGCTATACCTCTTGGCTCCTCTCCTTTTGGACATGTTTCAATGGCACTCCCATCTTGGGTGGGCTCCAAGGGTGCCTGTCCCTGTGCTGCTGCAAGCTTCTCTGCATGCCTTTGTCTTGCACGCTCACGTCTCTGAGCAATTTCTTCTTGAGTGAGAGGCCTACAGGATATCACAAATATGCTGTCATCTCTCAGTTCATCCAAGTAGGGAAACAGCAAGCATTGACATGGCTGGGTAAGATGAAGATTGGTCCCAGCTCCATTCCAGGCAATTTTGTCCAAGTCCTCTCCCTGTCTGTAGCAATAAGAGAGGGCCTATCAGCCTCTCTCTAATAATGCTGTGTCCCAACTATTCTGAGCTTATGAACTGACATGCAAGAGCCCAAGTCCCCATCTGGAGCAATGTACAATAGTATGGAACCTTTCTCAGATACCTATATTCCTTCTGGAAAAGGCAAAGAACAGGAAGAAGGAAGGGAAACAGTGACAGATACTAGGGTTTGGAACGACTCTGGCAGGGAAACAAGCATAAGGCCTCAATAACTGGGGTTCAAGAGGAAGGGTTCAAGGTCAGGATGAGTACTGGCAATTCATCAGGACTAGAAGGTCAAACTGAAATATCAGCCACTGTGTTAGACCTAAGAAGTACCATCACAGAAAAGGCAGTGTGTGGGTGTGTATGTGTGGTTTTCCATGGGGGTGAGAATGAGAAGGGGTGGGGGAGGTAATTAAGCTCTTTTTCCTAAAGAACTACCCTCATGTCTGTCAGGACGCAGAGAAGGTATTTAGAGTTTTAATACTAAAAAGGTGTTGACAAAAGGGGAATACTAAGTTGAATACAAATTCTGTTTGGGAGTTTGGGTTTGGAAGGTAGAAACCAGGCCGGTAGACTGTTTCCTAGGACTTGGCTCCCTTCCCACGTAGAGGTCCTTATGAACCTACCTGCATGCTCAACCCCAACACATGAACAAGACCAAACCCTGTCCTAAGGCTGATAGATTAACAGCATCTTCTGCCCTATACTCTGGGAAGTGAACATCAAAGCACTCAGGCTAGTCCTCTGGTCCTAACTTTATGCTCCAGCTCTGGAAGCTGGACAACTCTTCATGGTCCCAACACTTTGTGCCTCTCTCCCGTGTTGTCCATCACCTTTGATATTATGATTCCTGCTTTATTTGCCAATCTCAGACTTCACACCTAACTGATAACCTTCATCCCCACTTTGCCATGCCATATTCCCCTCCTCTCTCCGTAAGCACTGGAAGCCATGCAGGTAACCATTCTCCCTACTTGTCTTCCAAATGGCCACAGACCCTTAGGGCTCCTGATGCAAAGTGGCCTAACTCCTTCTACCTTTCTATTTCACGTAAGCTAACCTGCAAGGTGACTGCTTAAATCATTGACTGTCCACTGCTATACTCTTCAGATATCCGCCTGCTGGACAAGACTTCTCTAGTCCTAGTATCCAGGACTAGACACTACTTCTGCCTTCCTTAGCACCTGTCCCTCAAAATCAATGAGTTTAGTTCCAAGAGTAGGCCCTTCCACTCACACCCACTCTGCTGCAGGTCACTGGGCTGTGCAATAGAATACAAAAATATGAGAAACAATCCTTGAGCCTGGCTTGGTCAGGTGTCTTGTTAGGCAATCAAAACTGCTGGCACTAGGGGGCCACACTACCACTGCAAGAGACAAGCTCCTCATTATAGGAAGCTCTAAATGTCAGA
TGCCTGCTTCCCAGTGTTCACACCTTTGTTTAGAAATCTCCTTCTCGAGTGTGAGTGGGACCTGTGACTTGCTTCTTCTAACAAACGGAATATGGCAAAAGTGATGAGATGTCACACTGTGATTCTATACCATCATACAGGACTCTGTCTTGCTAGGAGATTCCTTCTACTCTCTTATATGGCTTGATGAAGAGGGCCTCCAAGTTGGGAAGGTCCATATGACAAGAAACTGTAGGTGGCCTCTAGGAGCTGAGGGCAGCCAAAGGCCAGAAAAAATCTGGGACTCTTAGTACTGCAGGTGCAAATATATGAATTCTATCAACAACCTTTAGTGAGCTTGGAAGCAGGTTCTTCATCAGTCAGTCCTCCAGATGAGAATGCACCCTGGCCAACATTCTGATTGTGGCTTTGTGAGACCCTAAGGAGAAGATGTGGCTAAGCCATGTCTGGTTTTCCAACCCACAGAAACTGTGGATGACAAAATGTGTAATGTTTCAAGCTGCTACATTTGTTGTAATCTGTAATATGCAGTAGCAGAAAACTAACACAAAGGATGAACACAAATTCTGGGTAGGGGTTACTTTGAAGGTAGGTCTGAAATATTTCAGGTTTTTTTTTAAGCAGTTGGAATTAGGTTTTATGGTGCTCTGGTTACTGAAATAAGAGGCCATTTGAGCTGTCAATGTATTGTATCATTCCTGCTTAAGACATGAGACACATAAGCAACTGATTTCAACCTGTAGCAAAGACACATTATGCAGAGATAAAGTGGATTGTTCATGGAATTTGTAATGCCAAATAAATCAATGTTTCACTAAATAACAATTTCTTGCTCACTTACCTTCACAAAAAAGGAAAAAATTAACTGATACTTGACCCTTACTGATAAATAGCAAACTATCAAGCCAAGATAATCACAGATTACGTAGATGTATAAAAAATCATAGATGAGTTTTTATACATATCACTTTCAGACTCCCATAAAACATAACCCTATACACACCAAGTGCTGCAATCTTTCTTGCTAAATTAGAACATGCCATAGCTCAACAAGGACTGCTTCACTGCCACGCAGCTCTGCACTCTCCAAGGATTAAACTGCTAAAACTCATGGAATAAGCATTCAAGGCAAAGAAAAACTGATGGCAGAGACTTACTTCAACTGCTACCTCCTTCTCTCTCACTTGTAGCCAAGTACCACAGCTTCCCTGGTTTATCTACAGACAGGCTGCTTCCTGCACAGAGAGGAGCATGGGTTTTTGTGCTCATGATGCTCCACGGTGCCAGCTGACAATTTCCTAGCTTACTGCTTTGTGCTGATCCAGACTGGCTGCTTGGACCTCTGGCACTGTCTTCATCCTATGACCTCTATTATTTAATTATGATATAATTATAATGTATATATCTTGCTTACTTCCAAAAATGTTCTGAGACATCTCTAGCCTGTGATCCCTGTTTCGCCCCTTGGCTCAGGCATTTTTAGATGCTGCCTGTTCACCTACTTACAGACCCTCCTGTCCAGACTCAGGGTCTGTGTGCCATGCAACTCCTGCCTATCCCCTGCTCACTGCCCACACCTTTGGCCTAAGCCAGCTAGTTTTTGGATCTTCCTATTTCTCAAAGACCGGCCATTGCCCTGGCTCCAGCATGACATCTGCTCTTATCAGTTCTTTTCTCTAACCACAAGGTGACTCTTGCCTAGAAGAGAAAAGCCTTATAATTAAACAAGGCCTGAAAATTTGGTCCACATATTGGTTTCCTAAATGCTACTAATTGAGACATATATGACAAATGTTATCAAAGCAACACAAAAGGATACACAGTCACTCAAGTGTGCCTTTCCAGAGACAAACTAAATCTACCAACAAGATAATCACCAGTCCCAACAAAATGTGAAAAGATATCAGACCCTCGAGAAACAATATATAAATATTTTACTTTCAATTCTTACCCTTCGTAAAAACTCAAGAGGACTGTATTTGGGCCCCAAGACAAAAATTTTCTTTCCTCTTCGAGCCACACCACTGAACACCCGAGCAAATGCAATAGAAGACTCTTGGTTGTTTTCTTCCTGGAGCACAGGTTTAGGGGTCATACTTTCCACCTGTTGCTCGTCACCTGACAGAAACAAAAAGATAATTAGTGCCAAGAATGCCCTCTTAATTCAAGAACTGTCTGAAATATAGAAGGAGGAGTGAATATGATATCTTTCGTCAAGTTTCAGGAAAAAAAAGAAAACAAAACAAAACAAGAATGGAAAGAATATTGATAAAAACTACGATTAAAGCTTAAAAATCTCAAGAACTAAAGGATGAGTGTCCCAAGTTAAGCAAAAAGGCAAATACTTTGCAACAGAGCCTACTTAGGAAAGCTATACCTCTTGGCTCCTCTCCTTTTGGACATGTTTCAATGGCACTCCCATCTTGGGTGGGCTCCAAGGGTGCCTGTCCCTGTGCTGCTGCAAGCTTCTCTGCATGCCTTTGTCTTGCACGCTCACGTCTCTGAGCAATTTCTTCTTGAGTGAGAGGCCTACAGGATATCACAAATATGCTGTCATCTCTCAGTTCATCCAAGTAGGGAAACAGCAAGCATTGACATGGCTGGGTAAGATGAAGATTGGTCCCAGCTCCATTCCAGGCAATTTTGTCCAAGTCCTCTCCCTGTCTGTAGCAATAAGAGAGGGCCTATCAGCCTCTCTCTAATAATGCTGTGTCCCAACTATTCTGAGCTTATGAACTGACATGCAAGAGCCCAAGTCCCCATCTGGAGCAATGTACAATAGTATGGAACCTTTCTCAGATACCTATATTCCTTCTGGAAAAGGCAAAGAACAGGAAGAAGGAAGGGAAACAGTGACAGATACTAGGGTTTGGAACGACTCTGGCAGGGAAACAAGCATAAGGCCTCAATAACTGGGGTTCAAGAGGAAGGGTTCAAGGTCAGGATGAGTACTGGCAATTCATCAGGACTAGAAGGTCAAACTGAAATATCAGCCACTGTGTTAGACCTAAGAAGTACCATCACAGAAAAGGCAGTGTGTGGGTGTGTATGTGTGGTTTTCCATGGGGGTGAGAATGAGAAGGGGTGGGGGAGGTAATTAAGCTCTTTTTCCTAAAGAACTACCCTCATGTCTGTCAGGACGCAGAGAAGGTATTTAGAGTTTTAATACTAAAAAGGTGTTGACAAAAGGGGAATACTAAGTTGAATACAAATTCTGTTTGGGAGTTTGGGTTTGGAAGGTAGAAACCAGGCCGGTAGACTGTTTCCTAGGACTTGGCTCCCTTCCCACGTAGAGGTCCTTATGAACCTACCTGCATGCTCAACCCCAACACATGAACAAGACCAAACCCTGTCCTAAGGCTGATAGATTAACAGCATCTTCTGCCCTATACTCTGGGAAGTGAACATCAAAGCACTCAGGCTAGTCCTCTGGTCCTAACTTTATGCTCCAGCTCTGGAAGCTGGACAACTCTTCATGGTCCCAACACTTTGTGCCTCTCTCCCGTGTTGTCCATCACCTTTGATATTATGATTCCTGCTTTATTTGCCAATCTCAGACTTCACACCTAACTGATAACCTTCATCCCCACTTTGCCATGCCATATTCCCCTCCTCTCTCCGTAAGCACTGGAAGCCATGCAGGTAACCATTCTCCCTACTTGTCTTCCAAATGGCCACAGACCCTTAGGGCTCCTGATGCAAAGTGGCCTAACTCCTTCTACCTTTCTATTTCACGTAAGCTAACCTGCAAGGTGACTGCTTAAATCATTGACTGTCCACTGCTATACTCTTCAGATATCCGCCTGCTGGACAAGACTTCTCTAGTCCTAGTATCCAGGACTAGACACTACTTCTGCCTTCCTTAGCACCTGTCCCTCAAAATCAATGAGTTTAGTTCCAAGAGTAGGCCCTTCCACTCACACCCACTCTGCTGCAGGTCACTGGGCTGTGCAATAGAATACAAAAATATGAGAAACAATCCTTGAGCCTGGCTTGGTCAGGTGTCTTGTTAGGCAATCAAAACTGCTGGCACTAGGGGGCCACACTACCACTGCAAGAGACAAGCTCCTCATTATAGGAAGCTCTAAATGTCAGA
Task1_train_21780
Gene EFL1 (elongation factor like GTPase 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Shwachman syndrome
TTCGAATATATTTATAGTTACTTTTATTAAGCAGACTACATACAACTAAAGTCTATGAGATTTTATGTGATATAAACAGGTGATTCTGTGTAAAGAATGTCAGGGGTATGCATAATTACTACAACTGGGTTGGAGTAAGCAAAGGAGGGTTTTTTTCCTTCAAGACAAGTCTTTATTGCACTTTAGGAACTTCAGCAAAGCTATGGAATCTCTGTATTGTTCAAACCAGAGACCAATGAGTAGGAGAACTGAAGATATTTAACACTGCTATCTGTCTGCAATGTAAATATGTATTAGCATATAATCCTAGAGCATCACTTTCCTGCTACCCAGTAAAGCTGAATTTATTCTAAGTACACCAAGTATATACCTCCCTAGAAAATAATTATCAAGCAAGCAGGAACTTTGCTTTATTCACAGCAGTATCCCTAGGACCAGAACAACGCTTGTCATATAGAAGACCTTCAGAAAATACTTGTTGAATGGATGAATCCCAGGTTTTTTAGGATAGTAGCAGCTTAACATAATTTTAAACAATACATTTAAAGTAATTTGTTACACCCCACTAACTTTCCACTTGAATAAATTCATAAAGAAAAAAAAAACCCTTTTATCAGCCTTCACATTCTCAAAATGTGAGCAGTAAAATTATAAAAACTCATGGAGGCAGGGGTTACTCACTGGATTTGTACTAAAACTCATTCACAGCTGGCTTCACTTGTAAGTGATCCACTATCTGTCTTTCTGTCAGTTTCCATACTCACATTACTTCAGCTCTTCTATCAATGACAACAGCCACCTAATCTCTGACTTTGGATCCATCCTAAGCATGTCTACCAATCTAATCTTTCTCATGTTTTATTTGATTACATCATTCCTGCTCCATGTTTTCCCCCAAAGGCTCCCTACTGCCTAATAGTAGACATTAATGATCGTTTTCATGGTGAAGCGTTTACCTTCCCTCTCATTATTATCACATTTAATCCTATAGCCTATAAAGCAGGTATAGTTTTCATCCTGTTTTACAGATGCTGTATATTGAAGCTCAAAAAGGCAAGGTATGTAACTTGAAAATGGAGATCTGAACTTAGGTTGTCTAACTCCAGAGCTGGAGCACTCAACTCTTATCCCAGTTCCTAGCTGGCATGAGCAGCTCTATGAGATATGACTCAGCCTGCTTCTTCACCTCGCCAACTGGTCCTTCATCTTCAGGATGGTAAATATGTTTTATTTCATATGCCCATCCCAATCACTTTGCTGTGGTTACCTAAACTACCAAGAGGTTTGAAATCAAGAGGAGGCTTAGCATGAAGGAGCGCTATGGAGTTACAGCAGTATCTGTCAGAAGAACATACCATGGGTTAGCTATCTCTGCCTTTCCCATATACTGGGCTTTGACCACATATATTTCCCTCTCCCCTTGATGACACATTCCCACCTGTAATGATTATCTCCATTTGTCATCTTGAGCCCCCTTCAAGTGTCATCTCTAATACTAATTATGTTGTGAGGTCTTTTCCTAACCCCTCACTTCCTAATCCTCTAGTTCTCCCAACCTTAGAGTCTACTTTTTTCTCTTGTTTGTCTCATTTTGCTCTGCTCCCCGTTAAAACCTCCCCTGGGCTAGTGCCCTACTCATAAATCTCCACCTTCAGACATACTAAGCAAAATATCTTGAACTTAACAGACGTTTGATAAATATCTGATGAATTAAATAGGATCACATACCACAGACTCTAAGGACATTATGTCAAGACTACAGACATTTTATATGTAAAGCCATTTCAAAAACAAAAAATTCAAGTTCTGCTTTAAAAAACAACATGACATAATATATAGAAGAATGCTACTCACTAGGTAACCGTGTTCATTTCAAATGCTTTATAGCAAAGCAGGCTTCCCTAACATCACACAAAACTTTTAAAGAAAGAAGACTTGCTTCTTAGCAAACATCACTCTCAGCTGTCCACAGCTTCACTCCACTGAGACATACAGAGACACATCTCCCTTATTTATCAAAATAAGCCATTTAAAAAGTATTCTTACCATGGTCAACATGAGCCAAAACACAAATATTCCTGATGTTGGCAGTGTTTTTCTGGAGTTGAATCATCTTATCCAAACTGTTGAGCACCATGATTACTTATTTCCTGTGACTAAAAATTAAATATGTATTACAAATGGCCCAGAGGCTAAAGGTCGGGGCAAAAGAAAAAAATAATAATAAACGCTGGGAGGTGGCAAGCTTCTCAAACCCCTTAAACCAAGAACCCAGTGAATGTTTATTGATGAGATAGACCACCAAGGCCTAAGTCCAGTTCGAGCACTAAAGTCAGTATCCTACCACGATTACACTTAAGGAGTTTGCTCATCCTTCCGGATCCAAAGGCTGCGATGAATCACGCAGCTCGAGGGGACTGGGTGCACAGTGACACCAGTAACCCTGCCGGTGGAGGAGTACTCCAGTAAACATCTCCAGGCCAATGACCACGTACAGGAAGGGTTGCATCCAGGAGGGAGAGAAAATGCTGAAGAAGATGCTCCCTTTCTCTCTTCAGTCTTCCCCCAAGTCCCTCATTCTGACATTCTCGCTCGTCCTCGCGCGAGGTCAAATACCCAGCTTTATTCCTGCCCATGGAGCCCGAACAAAGTTTTGGGTCACGTGCTTATTATCCAAGCAGGTGCACTGCCGGTCTTTCATTCCTTTCTAAATAAAAAGGAAAAACCTCTACACTACATGCCCTTCATTTCTGCAGGGTCCCAGATTCGTTCTCTTTGAGGATCCTGGGTCCACACAGACAGGCGACCGCCCCGGCCCCAGACGGGAAGCGGCACTCCGGGGACCGAAGCTCCCAGCCCGCGCTCGGCCCCAGCCCCTGTTCCCGCCTCAGAGCCGCAGCGAGCGGGTTCCTCCGGCACCGCCCAAAGGCTGGCCTAGGAGGTTCCAGCCCCCAGCGCCAGCCCACACTCACCGGCTGCAGCAGCCCCACCAGCCCCGCTCCTTCTCTCGGGTCGCACCCACACCGAGAGCTTCCGAAAGTCCGAGAGCTCTGCGGGTCCGACACGCCCGCGCGCCAGGGGGCGGGGCCGGCTGTCGCTCGACCTTTCACCCGCACGTCTCTGACGCCGCCGGAAGCCGGCGCCGAGTCTGTCACCGGGCATCCCTCTGTTGCCTTGACTACGGCGGGCGCTGTGGGAGTGGAGAAGCTGCAAGTGCTGAGGCGCGGTGGAGGAAAGCATGGGAGCCAAGAGTATGAGGAGCTGGTGTCTGTGTCAGATTTGTAGCTGCGGGTAAGAAACGGCTGGTGTAGCGGCGGGCCCGGGCTTGGGAGCCGACCTAGGGCCTAGGTGCACGGAGCCGGCTCCTCGGGAACCCTGAGAGTGGCCGTCCCCCGGAGATGAAGGGACGAGGGCGCAGCGACATCCCCACTTATCCCGCTCCGCGAATACTCGCTCCTCACCCGCCTGCTACCCGGGGGTAAAACGTTTGTTCGTAGCCCCTGAGACTCCCAATCAAGGATGCAAAGTAAAATGCCACCCGGGCCAGGTAAGTAATATATGTGAAGCCGCGACGGGATATAACGCTGGTGAGTAGTGGGATGTGATCCGACTGGGAGAGTGCATTTCCACCCCATAATCCCCCACCACGAAGATGAGAAAGAACAGTGCTCAAGGCCCTGAGTCTGCAACCCATATCACATTTTCTTTCATCTGTAGCTTTCTGTCCTCCCAGCCAGACCATATTCCCATTCCCGTCCAGGCAGCAGTTCTTTGGGATCCGCCTGACTGAAAAGTCAGTAAGTAGTCCCTACCCTGAAATCTAGAATCCAACTGTGAGTCCTGCCTAACAACCTTCCATCACCTGTAAACACAGTCCTCTCCTTCCTCAGCTTCACTATTGACCCAGGGATTAGATCATTATTTGCTAAGTAAATATGAACGTTGTCAATCCCTGGTGTATTTGTAATCCCATTCAAAGAAAACACCTACATGTTGATGGAAAGCAGTTTTTTTAATAGTCTCATAATAAACACAGTTCATAATTATATATAGATTAAAATATCAACAAATTAACTTTGGGTGTATGAATCCTCAG
TTCGAATATATTTATAGTTACTTTTATTAAGCAGACTACATACAACTAAAGTCTATGAGATTTTATGTGATATAAACAGGTGATTCTGTGTAAAGAATGTCAGGGGTATGCATAATTACTACAACTGGGTTGGAGTAAGCAAAGGAGGGTTTTTTTCCTTCAAGACAAGTCTTTATTGCACTTTAGGAACTTCAGCAAAGCTATGGAATCTCTGTATTGTTCAAACCAGAGACCAATGAGTAGGAGAACTGAAGATATTTAACACTGCTATCTGTCTGCAATGTAAATATGTATTAGCATATAATCCTAGAGCATCACTTTCCTGCTACCCAGTAAAGCTGAATTTATTCTAAGTACACCAAGTATATACCTCCCTAGAAAATAATTATCAAGCAAGCAGGAACTTTGCTTTATTCACAGCAGTATCCCTAGGACCAGAACAACGCTTGTCATATAGAAGACCTTCAGAAAATACTTGTTGAATGGATGAATCCCAGGTTTTTTAGGATAGTAGCAGCTTAACATAATTTTAAACAATACATTTAAAGTAATTTGTTACACCCCACTAACTTTCCACTTGAATAAATTCATAAAGAAAAAAAAAACCCTTTTATCAGCCTTCACATTCTCAAAATGTGAGCAGTAAAATTATAAAAACTCATGGAGGCAGGGGTTACTCACTGGATTTGTACTAAAACTCATTCACAGCTGGCTTCACTTGTAAGTGATCCACTATCTGTCTTTCTGTCAGTTTCCATACTCACATTACTTCAGCTCTTCTATCAATGACAACAGCCACCTAATCTCTGACTTTGGATCCATCCTAAGCATGTCTACCAATCTAATCTTTCTCATGTTTTATTTGATTACATCATTCCTGCTCCATGTTTTCCCCCAAAGGCTCCCTACTGCCTAATAGTAGACATTAATGATCGTTTTCATGGTGAAGCGTTTACCTTCCCTCTCATTATTATCACATTTAATCCTATAGCCTATAAAGCAGGTATAGTTTTCATCCTGTTTTACAGATGCTGTATATTGAAGCTCAAAAAGGCAAGGTATGTAACTTGAAAATGGAGATCTGAACTTAGGTTGTCTAACTCCAGAGCTGGAGCACTCAACTCTTATCCCAGTTCCTAGCTGGCATGAGCAGCTCTATGAGATATGACTCAGCCTGCTTCTTCACCTCGCCAACTGGTCCTTCATCTTCAGGATGGTAAATATGTTTTATTTCATATGCCCATCCCAATCACTTTGCTGTGGTTACCTAAACTACCAAGAGGTTTGAAATCAAGAGGAGGCTTAGCATGAAGGAGCGCTATGGAGTTACAGCAGTATCTGTCAGAAGAACATACCATGGGTTAGCTATCTCTGCCTTTCCCATATACTGGGCTTTGACCACATATATTTCCCTCTCCCCTTGATGACACATTCCCACCTGTAATGATTATCTCCATTTGTCATCTTGAGCCCCCTTCAAGTGTCATCTCTAATACTAATTATGTTGTGAGGTCTTTTCCTAACCCCTCACTTCCTAATCCTCTAGTTCTCCCAACCTTAGAGTCTACTTTTTTCTCTTGTTTGTCTCATTTTGCTCTGCTCCCCGTTAAAACCTCCCCTGGGCTAGTGCCCTACTCATAAATCTCCACCTTCAGACATACTAAGCAAAATATCTTGAACTTAACAGACGTTTGATAAATATCTGATGAATTAAATAGGATCACATACCACAGACTCTAAGGACATTATGTCAAGACTACAGACATTTTATATGTAAAGCCATTTCAAAAACAAAAAATTCAAGTTCTGCTTTAAAAAACAACATGACATAATATATAGAAGAATGCTACTCACTAGGTAACCGTGTTCATTTCAAATGCTTTATAGCAAAGCAGGCTTCCCTAACATCACACAAAACTTTTAAAGAAAGAAGACTTGCTTCTTAGCAAACATCACTCTCAGCTGTCCACAGCTTCACTCCACTGAGACATACAGAGACACATCTCCCTTATTTATCAAAATAAGCCATTTAAAAAGTATTCTTACCACGGTCAACATGAGCCAAAACACAAATATTCCTGATGTTGGCAGTGTTTTTCTGGAGTTGAATCATCTTATCCAAACTGTTGAGCACCATGATTACTTATTTCCTGTGACTAAAAATTAAATATGTATTACAAATGGCCCAGAGGCTAAAGGTCGGGGCAAAAGAAAAAAATAATAATAAACGCTGGGAGGTGGCAAGCTTCTCAAACCCCTTAAACCAAGAACCCAGTGAATGTTTATTGATGAGATAGACCACCAAGGCCTAAGTCCAGTTCGAGCACTAAAGTCAGTATCCTACCACGATTACACTTAAGGAGTTTGCTCATCCTTCCGGATCCAAAGGCTGCGATGAATCACGCAGCTCGAGGGGACTGGGTGCACAGTGACACCAGTAACCCTGCCGGTGGAGGAGTACTCCAGTAAACATCTCCAGGCCAATGACCACGTACAGGAAGGGTTGCATCCAGGAGGGAGAGAAAATGCTGAAGAAGATGCTCCCTTTCTCTCTTCAGTCTTCCCCCAAGTCCCTCATTCTGACATTCTCGCTCGTCCTCGCGCGAGGTCAAATACCCAGCTTTATTCCTGCCCATGGAGCCCGAACAAAGTTTTGGGTCACGTGCTTATTATCCAAGCAGGTGCACTGCCGGTCTTTCATTCCTTTCTAAATAAAAAGGAAAAACCTCTACACTACATGCCCTTCATTTCTGCAGGGTCCCAGATTCGTTCTCTTTGAGGATCCTGGGTCCACACAGACAGGCGACCGCCCCGGCCCCAGACGGGAAGCGGCACTCCGGGGACCGAAGCTCCCAGCCCGCGCTCGGCCCCAGCCCCTGTTCCCGCCTCAGAGCCGCAGCGAGCGGGTTCCTCCGGCACCGCCCAAAGGCTGGCCTAGGAGGTTCCAGCCCCCAGCGCCAGCCCACACTCACCGGCTGCAGCAGCCCCACCAGCCCCGCTCCTTCTCTCGGGTCGCACCCACACCGAGAGCTTCCGAAAGTCCGAGAGCTCTGCGGGTCCGACACGCCCGCGCGCCAGGGGGCGGGGCCGGCTGTCGCTCGACCTTTCACCCGCACGTCTCTGACGCCGCCGGAAGCCGGCGCCGAGTCTGTCACCGGGCATCCCTCTGTTGCCTTGACTACGGCGGGCGCTGTGGGAGTGGAGAAGCTGCAAGTGCTGAGGCGCGGTGGAGGAAAGCATGGGAGCCAAGAGTATGAGGAGCTGGTGTCTGTGTCAGATTTGTAGCTGCGGGTAAGAAACGGCTGGTGTAGCGGCGGGCCCGGGCTTGGGAGCCGACCTAGGGCCTAGGTGCACGGAGCCGGCTCCTCGGGAACCCTGAGAGTGGCCGTCCCCCGGAGATGAAGGGACGAGGGCGCAGCGACATCCCCACTTATCCCGCTCCGCGAATACTCGCTCCTCACCCGCCTGCTACCCGGGGGTAAAACGTTTGTTCGTAGCCCCTGAGACTCCCAATCAAGGATGCAAAGTAAAATGCCACCCGGGCCAGGTAAGTAATATATGTGAAGCCGCGACGGGATATAACGCTGGTGAGTAGTGGGATGTGATCCGACTGGGAGAGTGCATTTCCACCCCATAATCCCCCACCACGAAGATGAGAAAGAACAGTGCTCAAGGCCCTGAGTCTGCAACCCATATCACATTTTCTTTCATCTGTAGCTTTCTGTCCTCCCAGCCAGACCATATTCCCATTCCCGTCCAGGCAGCAGTTCTTTGGGATCCGCCTGACTGAAAAGTCAGTAAGTAGTCCCTACCCTGAAATCTAGAATCCAACTGTGAGTCCTGCCTAACAACCTTCCATCACCTGTAAACACAGTCCTCTCCTTCCTCAGCTTCACTATTGACCCAGGGATTAGATCATTATTTGCTAAGTAAATATGAACGTTGTCAATCCCTGGTGTATTTGTAATCCCATTCAAAGAAAACACCTACATGTTGATGGAAAGCAGTTTTTTTAATAGTCTCATAATAAACACAGTTCATAATTATATATAGATTAAAATATCAACAAATTAACTTTGGGTGTATGAATCCTCAG
Task1_train_21781
Gene RPS17 (ribosomal protein S17), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Diamond-Blackfan anemia
GAAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCATGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGG
GAAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCCTGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGG
Task1_train_21782
This mutation is located in gene RPS17 (ribosomal protein S17) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Diamond-Blackfan anemia
AAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCATGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGGG
AAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCACGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGGG
Task1_train_21783
The variant affects gene HOMER2 (homer scaffold protein 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 68
TTTAAGCCAGCAGGGTAGAAAAATCAAGCAACCTCATGGTACAGTGGCTGCCGAAAAGGGAAGCAATGACATTTCGAATATTATAAATCAAGGTGACCTTCCCCTGGGAATGCACGTGGAAGGGGCCTGGCCTGTGGGCCTCTTCCCCAAGGCTGAATGGCAAATCCCTACACCGCATCTTTCCCTTTCCAAGGCTGACCCCTCAAAACAGTTACCTGTGTGGAACAGGGGTGCAAGGGCTTGGCACTCTCACACTGCCATTGAATGCTGGGGGCCAAAATGTGTGTGCAGAGTGGACAGCAGGCGTGGACCCCACATGCAACACAAAAGCACTGTAGTGAAGTCCCCCCGAACAGGCAGCAGCAGTCCTTGACATGAAGGGCACCGAGGACACTTCCCAGAGGCAGGCTGCACCAAGCCTTGGGGTCTGAACTCCCAGCCCCTGCTGCTGCTGGAAACCACACCAACTTCCGCCTCCAACCCTGGGAGGCAAGCTTGTGAGATGTCGACTCAGGGAGGTCGACACGCCTCCAAGGGAGCGAGTTGTGCGTGATGCTCTTCCTCCACTCCCCCCGCACTGCTGCTGGCTATCAGACTGAGACCAAAGTGAGAAACTCAGCTCTTTTCTTGAAAATGCAAGAAAGGGCAATCGATCCCTCTGGCAGGCAGATCTGCCAGGCCTCGGGTGGGAACGTGCAAAGTCAGCAATTGGCCTGGTGCCCAACCGTCAGCACCAAGATGAAAAAATGACACGAGACACTTTTATGTGGCATTAGCATGAAAGTAAGACAGTGTGACAGAGGGCTGGGATGCAGGGGCCCTCCAGGTCGGGCAGGGCAGGGGAGAAAAGGGGGTCAAGGGGGAGTGAACACCAATCTAAATGGGACCTGTCCCCCTAAAACCCTGCACTGACGGAGCATACTCCAAAGCCTATGTGTTTCTAGTGGGAGGATTAACCATGATCAAAACAAGGTTAGCAGAGAAACCTCAAGACCTCAATGGGGGGTCTCTGGCCACCCCAAAAGCACCTTATGAACTAGAGTGTGACTAATGACAGGGAAGGTTACAGGTGCATTTTCAAACAAATCAAAATGCCAGGATGTCAAGGTCGGAGAGTAGAGGGCGTACAACAGGTCAGCACCTGTTTACCCTCCTCACGCCTCAAGCACCATAATCCTTTTCTCAACTCCAAATTTACATGTTTAGAAACAATAATGTGAATGGAAGCAGGACTTCCAAGCAGGCGCAACTCACCATCTCCCAAGTCTGTTTCTCACCTACCCTCTGGGTCCCCTTCCTCCACGGAGGGTCACTGAACCACAGAAATGCTGAGGGAGGGCACTCTGAGAGAGACAGGGCTGACACCTCCAGTTTATCTTCTCCTCAGTAAGAGGAATTATAAAACTTGGTTCAGAAAAGGTAACGAGTCTGGCCAGGCACAGTGGTTCACGCCTGTAATCCTGGCACTTCAGGAGGCTGAGGCGGGTGTATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTCTAATCCCAGCTACTTCGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGACAGGAGGCTGCAGTGCACTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAGAAAGAAAATAAAACCAGAAAAGGTAATGAGTCAATTATGTACGTGGTTAAATTCCTACTAAGAAAGGCAGGGAGGGGGAGGGACGTTCCCATGGGAGAGGCAGCAAGTCTTCCTCTGGCCATGGGGATAAGGGCAAAGTTGGGGAGGGAGAAAAAGGGTTGTGGGTGCCCCCATCTCCCACTGCCCACACCAGCTGGCCTCGGGGCTCACTGCATCCACCGTACCCACCTTGTTGCGGAGCCGGTCATTCTCATCACGGCAGATGGAGAACTGCCTCTTCCACTGCTCCACACTGGCTGCCGACTCCTGCAGTGCTGTGGTCAGCCGTGCATTGCTCTCCCGAAGGGTCTGCAGCTCGATCTCCCACTTCTTCACGTTGGCTGCGCTGCAGGACAGGGACGGGCGGTGACGACGGGGTGGGTGCTGTCCCGTCTGGCTCCGCCCGCGTGGGGAAGGGGACTCCGCCATCCCTCAGCACACCCCTGGGGGGCCCACGCCCTCTCCCCACAGTAAGCTGGCAGGTGGGTCTGGCTACCCTGATCCAGGGCCAGGAGGGACTGGCCCCTCTCTCTGGTGTGAACATGTCATCCTGTGGTCTATCTTCTTAAAGAATCACCTTAGAAGAGAACACAATTCTTGGGCCGGACGCAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCACTAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAAAATGGTGGCGGGCGCCTGCAGTCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGCGACAGAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAACACAATTCTTCACGAATGAAGAGACAAAGCTAGGCATGAGGGCTGCAGGGCGGGCAAGGCCCATCCCATCCTCCTTACTGGCCGCCCTGCTTCCTCCTGAAAGGAGTTTCATGGGTGGACCGGGTGACCTTCAAGAATCGTATGAAAGCCATGGACGGACCTCCAGGACGCTGGGTTTAAACAAGCAAGAAGCCAACAGCTTGGCTCCGGGGAATAATGGTCCCACTGTAACCTGTGCCTTCTCAGAGCCTTTGAAGGAATCCAGATCTGAGGGCCTAGGGCTTGGAGACAGGAGAGAGTGACCAGGAATCAGTGCCCTGGGGGCACAACAGGGGTCTGGAGGGAGCTCTGGCTGGCCCATATCCCCCCGGGGTGTGAGGAGACCAGGAATCTGAGGGACACCTCTGCTGTCACCACAAAGGCCTCATGTTTCATCTGATTCTACATGCTTGGTGAGGAGGACGTTTAAAACAAAACCAAACTGGAATCAGGTTCCCCTCATTGTTCTCTTCTGACCCTCCTTCAATTTCCTTGCTAGGAGCCCACACATCTGTGGCGCTGAATGTGACTGGAGGTGACAGGGCAGAGCTGCACGTGACAAGCCCATGGGGAGGTTTCCGCCTGGCTAAGTCCTCTTTCTAAAGGCTCTTCCTAATTTTTTTAAGTAAATACAATGGTGTGTCTGAATAGATCTGTGTTATCTTTTATCCCACAACCTCAAGGACCTCGAGGACTTGGAAAATATGTACTTTCACTTTCAAACACCACTGACTGAAGAAATAATAAAATGTTATTATCTGGTGAATTCTAGAGTTGATGACTGACAATTTAAGCTAATTTAGGGAAATAGCTTCCTGCCCATTCTTGTAGTACCTCACTTGCTCATTAAACTCAGATTTGAAAACATTTATTTTTAGGGGTGAAACATTTTCACCCAGGCAGCCCACTGTGACTTAAACAACCAAAAACAGCTCTCAGTTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGAAGGGAGGATAACTTGATAAGCCCAGGAGTTTGGGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAATAAAAATCAGCCAGGTGTGGTAGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGGGGATCAGTCGAGCCCAGGAGTTCAAGGCTGTAGTAAGCTATGATGACACCACTGCACTACAGCTGGGATCACAGAGACTCTGCCTCAAAAAACAAATAAATAAATAAATAAATAAAGCTCTCACAATTGTCTGATGAGTAAGAAAAGAGACTGGTCACAGTTCTGTCCTTTGAAGTACCTGACAAAGAGTCACAGTCCAAAGGCAGGGGGTTGGATCTAAGGGTCACATGTGCTTTCTGGAATTCCTAGGTCAGATCACA
TTTAAGCCAGCAGGGTAGAAAAATCAAGCAACCTCATGGTACAGTGGCTGCCGAAAAGGGAAGCAATGACATTTCGAATATTATAAATCAAGGTGACCTTCCCCTGGGAATGCACGTGGAAGGGGCCTGGCCTGTGGGCCTCTTCCCCAAGGCTGAATGGCAAATCCCTACACCGCATCTTTCCCTTTCCAAGGCTGACCCCTCAAAACAGTTACCTGTGTGGAACAGGGGTGCAAGGGCTTGGCACTCTCACACTGCCATTGAATGCTGGGGGCCAAAATGTGTGTGCAGAGTGGACAGCAGGCGTGGACCCCACATGCAACACAAAAGCACTGTAGTGAAGTCCCCCCGAACAGGCAGCAGCAGTCCTTGACATGAAGGGCACCGAGGACACTTCCCAGAGGCAGGCTGCACCAAGCCTTGGGGTCTGAACTCCCAGCCCCTGCTGCTGCTGGAAACCACACCAACTTCCGCCTCCAACCCTGGGAGGCAAGCTTGTGAGATGTCGACTCAGGGAGGTCGACACGCCTCCAAGGGAGCGAGTTGTGCGTGATGCTCTTCCTCCACTCCCCCCGCACTGCTGCTGGCTATCAGACTGAGACCAAAGTGAGAAACTCAGCTCTTTTCTTGAAAATGCAAGAAAGGGCAATCGATCCCTCTGGCAGGCAGATCTGCCAGGCCTCGGGTGGGAACGTGCAAAGTCAGCAATTGGCCTGGTGCCCAACCGTCAGCACCAAGATGAAAAAATGACACGAGACACTTTTATGTGGCATTAGCATGAAAGTAAGACAGTGTGACAGAGGGCTGGGATGCAGGGGCCCTCCAGGTCGGGCAGGGCAGGGGAGAAAAGGGGGTCAAGGGGGAGTGAACACCAATCTAAATGGGACCTGTCCCCCTAAAACCCTGCACTGACGGAGCATACTCCAAAGCCTATGTGTTTCTAGTGGGAGGATTAACCATGATCAAAACAAGGTTAGCAGAGAAACCTCAAGACCTCAATGGGGGGTCTCTGGCCACCCCAAAAGCACCTTATGAACTAGAGTGTGACTAATGACAGGGAAGGTTACAGGTGCATTTTCAAACAAATCAAAATGCCAGGATGTCAAGGTCGGAGAGTAGAGGGCGTACAACAGGTCAGCACCTGTTTACCCTCCTCACGCCTCAAGCACCATAATCCTTTTCTCAACTCCAAATTTACATGTTTAGAAACAATAATGTGAATGGAAGCAGGACTTCCAAGCAGGCGCAACTCACCATCTCCCAAGTCTGTTTCTCACCTACCCTCTGGGTCCCCTTCCTCCACGGAGGGTCACTGAACCACAGAAATGCTGAGGGAGGGCACTCTGAGAGAGACAGGGCTGACACCTCCAGTTTATCTTCTCCTCAGTAAGAGGAATTATAAAACTTGGTTCAGAAAAGGTAACGAGTCTGGCCAGGCACAGTGGTTCACGCCTGTAATCCTGGCACTTCAGGAGGCTGAGGCGGGTGTATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTCTAATCCCAGCTACTTCGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGACAGGAGGCTGCAGTGCACTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAGAAAGAAAATAAAACCAGAAAAGGTAATGAGTCAATTATGTACGTGGTTAAATTCCTACTAAGAAAGGCAGGGAGGGGGAGGGACGTTCCCATGGGAGAGGCAGCAAGTCTTCCTCTGGCCATGGGGATAAGGGCAAAGTTGGGGAGGGAGAAAAAGGGTTGTGGGTGCCCCCATCTCCCACTGCCCACACCAGCTGGCCTCGGGGCTCACTGCATCCACCGTACCCACCTTGTTGCGGAGCCGGTCATTCTCATCACGGCAGATGGAGAACTGCCTCTTCCACTGCTCCACACTGGCTGCCGACTCCTGCAGTGCTGTGGTCAGCGGTGCATTGCTCTCCCGAAGGGTCTGCAGCTCGATCTCCCACTTCTTCACGTTGGCTGCGCTGCAGGACAGGGACGGGCGGTGACGACGGGGTGGGTGCTGTCCCGTCTGGCTCCGCCCGCGTGGGGAAGGGGACTCCGCCATCCCTCAGCACACCCCTGGGGGGCCCACGCCCTCTCCCCACAGTAAGCTGGCAGGTGGGTCTGGCTACCCTGATCCAGGGCCAGGAGGGACTGGCCCCTCTCTCTGGTGTGAACATGTCATCCTGTGGTCTATCTTCTTAAAGAATCACCTTAGAAGAGAACACAATTCTTGGGCCGGACGCAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCACTAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAAAATGGTGGCGGGCGCCTGCAGTCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGCGACAGAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAACACAATTCTTCACGAATGAAGAGACAAAGCTAGGCATGAGGGCTGCAGGGCGGGCAAGGCCCATCCCATCCTCCTTACTGGCCGCCCTGCTTCCTCCTGAAAGGAGTTTCATGGGTGGACCGGGTGACCTTCAAGAATCGTATGAAAGCCATGGACGGACCTCCAGGACGCTGGGTTTAAACAAGCAAGAAGCCAACAGCTTGGCTCCGGGGAATAATGGTCCCACTGTAACCTGTGCCTTCTCAGAGCCTTTGAAGGAATCCAGATCTGAGGGCCTAGGGCTTGGAGACAGGAGAGAGTGACCAGGAATCAGTGCCCTGGGGGCACAACAGGGGTCTGGAGGGAGCTCTGGCTGGCCCATATCCCCCCGGGGTGTGAGGAGACCAGGAATCTGAGGGACACCTCTGCTGTCACCACAAAGGCCTCATGTTTCATCTGATTCTACATGCTTGGTGAGGAGGACGTTTAAAACAAAACCAAACTGGAATCAGGTTCCCCTCATTGTTCTCTTCTGACCCTCCTTCAATTTCCTTGCTAGGAGCCCACACATCTGTGGCGCTGAATGTGACTGGAGGTGACAGGGCAGAGCTGCACGTGACAAGCCCATGGGGAGGTTTCCGCCTGGCTAAGTCCTCTTTCTAAAGGCTCTTCCTAATTTTTTTAAGTAAATACAATGGTGTGTCTGAATAGATCTGTGTTATCTTTTATCCCACAACCTCAAGGACCTCGAGGACTTGGAAAATATGTACTTTCACTTTCAAACACCACTGACTGAAGAAATAATAAAATGTTATTATCTGGTGAATTCTAGAGTTGATGACTGACAATTTAAGCTAATTTAGGGAAATAGCTTCCTGCCCATTCTTGTAGTACCTCACTTGCTCATTAAACTCAGATTTGAAAACATTTATTTTTAGGGGTGAAACATTTTCACCCAGGCAGCCCACTGTGACTTAAACAACCAAAAACAGCTCTCAGTTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGAAGGGAGGATAACTTGATAAGCCCAGGAGTTTGGGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAATAAAAATCAGCCAGGTGTGGTAGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGGGGATCAGTCGAGCCCAGGAGTTCAAGGCTGTAGTAAGCTATGATGACACCACTGCACTACAGCTGGGATCACAGAGACTCTGCCTCAAAAAACAAATAAATAAATAAATAAATAAAGCTCTCACAATTGTCTGATGAGTAAGAAAAGAGACTGGTCACAGTTCTGTCCTTTGAAGTACCTGACAAAGAGTCACAGTCCAAAGGCAGGGGGTTGGATCTAAGGGTCACATGTGCTTTCTGGAATTCCTAGGTCAGATCACA
Task1_train_21784
The gene WDR73 (WD repeat domain 73) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Galloway-Mowat syndrome 1
TTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCTCGAACTCCTCCTGGACTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGACATGAGCCACATGCTTGACCTGAATTTTAACTGCAGTTAATTATCACTTAACCAGCGAATTCACACAGGAGAAATCCCCTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCTCTTCGGGAGGCCGAGGTGGGTAGATCACAAGGTCAAGAGATCAAGACCATTCTGGCCAACATGGTGAAACTCCGTCTGTACCAAAAATACAAAAATTACCTGGGCATGGTGGTACGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGCATTGCTTGAACCCATGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCAAGCCTGGGTGACAGAGCAAGACTCCATCTCTACTACAAAAAAAAAAAAAAAAAAAATTCAACCACCTTAGGAAGCCTCTCATTTATGTATTTCTAGCATGTAATTAGTGTTGCACATGGGAAGGGCTAATAGATGCTGACAGAGTGAACAACTTATCTATTTTGTGTGTGTGTGTGTAACAGGGTCTCATTCTGTTGCCCAGGCTGGAATACAGTGGCATGATCACAGCTCACTGCAAACTTCAACTGCCAGGCTCAGGCAACCCTCCCACCTCAGCCTCTTGAATAGCTGGGACTGCAGGCTCATACCACCACAACCAGCTAACTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGCTCAGGCTAGTCTCGAACTCCTGGACTCAAGTGATCCACCTGTCTTGGCTGCCTACATTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTTTTTTTTTTTTTTAAGGGAAGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTCAGCTCAAGCAATCTGCCCACCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCATGTCCAGCACACTTTAATATTCACTATGGGCCCTCAAAAGGAAATGTTTGTGGGGCCACCAAAAGCAAATGTCTCTTGAACCTAGTCACCTGGGGGGACAAGTGTGGGAAAGTGCACCTGTGTTCCCATGAGACCCACTCAAGAGGAGCAGAAATCCTGTTTTGCTATTTCCTTAATTGCTACTAGGGCTGGGATTTTTTCATGTTTATTGGCCCCTCTACATTTTTTTCTTTAAAAAAATTCACAAAGCATGTTTATATTTGTTAGCTCTTTTGATTCTCCCTATGATAGTGTGAAGACAGGGACAAAACGCTACCATTTCACACTCCCAGATCTAACAATAGCTACCAAGTAATTATGCCATGCGTTTCTTCTAACCTTCGCAATATCACTACGAGGTAGTTCTTACTATCCTCATTTTACAGATAAGGAAACTGAGGCTAAGTGACGCTGGCAGACTTGCCCAAGGCCACACAGCTGGTAACAGGGACTGGTAGTCACTTGAGTCCTACATGAGCACCCTTGCTACTACAGCAGCTCCTCCCCTTTCTAGAGGCCTAGATGGAAAGATGCTGGTGTCAGCGGGGGGCACAAAGGTCCACCCAGTCCCACACATGCAGAGAGGCATCATTTGTTGCTGATAACAAAGTCCTTGGTCTGCAGGGATGCCAGGTGTGGGTGGTGACCAAAGGAGCAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATACTTTTTATAATTTGTTCTATGGTACCAAAACAGGCTATTGGATGAGGAATCAAGGCACTTAAAAGGCTAACCACGGGCAAGTAGCATCTGCCCTCAGTGTTGGCAGCTGATGACTCCGTGGGGCATGTAACCATGAGCATCCGTTGTGCACCTGTTATGCGTGAGGCTCGAAGGCTAATTCTGGACAAGTATTAGCTCTTTTAATCCTCAGAACTGTATGACACAGATACTGTTATTTTACCCAGGAAACTGAGGCTTAAGAGACTTCTTCAAACCTTTTCAAGTTGCCCCAGAGTCCAGTCCCCTACCTCTGGGTCCCTTTCAGCAGATGGCCTTGTCTCCTACTCGATGGGGGAAACAGAAGCCTTTGGAGAGAAATACCTTCACGTCCCTGCACGATCTAGCTGCACACACACTCATTCCATCCTGCCATCTTCCTGGTACTGAAGAGCCAGCCCCTCTACCTGAGCTTGGCTCTTCTGTTCTTTCTGGATCCTGGCATTTCCAATCATCCTTTCTTGCTCTCTTAATGATTTTTTTCAACCCCCACCTGCCTCGACGGATCCTTCCTGTTGGCTTTTAGATACCCACATTAAGTGCCGCAAGCAACTAGCTACCACCAGACCAGAACCAGGGGCCTGCTGACCTAGCTGGCTTGCTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGTCTGGAGTGCAGTGGCGTCATCTCAGCTCACTGCAACCTCTGACTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGGTGGGACTACAGGCGTGCACCAAAACACCCGGCTAATTTTTTTTATTTTCATAGAGACGGGGTTTCACCATGTTGGCCACGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCGGCCAACTTGCTACATTTCAAAAGGCAAGTAGGCTGAGAAGTACCCTTGAGGTGCTGTCCCTGCTGCTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCACTGTCCCCTTTTCTTTCTGACCCAGCCCGATGTCTGTCCCAGTGTCTTACTGTCTGCAGGCCCCTCCACCAACCTGAGACCTGAATTCCTGCTAGGCTAGGAAAGGCCTGCTGCCAATGTGTGGAAGTTTAGTAGCCAGGGTAGGAAAAGGCCTGCCACTGAAGAACCTGGAGAGTTCGAATTTCTCTGTGAGCAACTTTAACTCCTGGAGCCAGGTTTATCATGGTGCTGGAGGCTCCTTCCTGAGCACCCAACAGTCTCCTGGAAGAAAGAGATCAGATAACAAGACGAAATCCTGCTCGGCAGTACCTGAGATGGCCAAGCAATTCTTCAGGCCTGGGGCCCAAGTCACTCGCAGCAGCTCTGGGTCAGGGCTAGGTACGGATACTGGGCACTGGACTGAGCTCACAGGATGGCAGAGATCCCGGGGGTCAAGAAGACAAAGACGCCCATC
TTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCTCGAACTCCTCCTGGACTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGACATGAGCCACATGCTTGACCTGAATTTTAACTGCAGTTAATTATCACTTAACCAGCGAATTCACACAGGAGAAATCCCCTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCTCTTCGGGAGGCCGAGGTGGGTAGATCACAAGGTCAAGAGATCAAGACCATTCTGGCCAACATGGTGAAACTCCGTCTGTACCAAAAATACAAAAATTACCTGGGCATGGTGGTACGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGCATTGCTTGAACCCATGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCAAGCCTGGGTGACAGAGCAAGACTCCATCTCTACTACAAAAAAAAAAAAAAAAAAAATTCAACCACCTTAGGAAGCCTCTCATTTATGTATTTCTAGCATGTAATTAGTGTTGCACATGGGAAGGGCTAATAGATGCTGACAGAGTGAACAACTTATCTATTTTGTGTGTGTGTGTGTAACAGGGTCTCATTCTGTTGCCCAGGCTGGAATACAGTGGCATGATCACAGCTCACTGCAAACTTCAACTGCCAGGCTCAGGCAACCCTCCCACCTCAGCCTCTTGAATAGCTGGGACTGCAGGCTCATACCACCACAACCAGCTAACTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGCTCAGGCTAGTCTCGAACTCCTGGACTCAAGTGATCCACCTGTCTTGGCTGCCTACATTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTTTTTTTTTTTTTTAAGGGAAGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTCAGCTCAAGCAATCTGCCCACCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCATGTCCAGCACACTTTAATATTCACTATGGGCCCTCAAAAGGAAATGTTTGTGGGGCCACCAAAAGCAAATGTCTCTTGAACCTAGTCACCTGGGGGGACAAGTGTGGGAAAGTGCACCTGTGTTCCCATGAGACCCACTCAAGAGGAGCAGAAATCCTGTTTTGCTATTTCCTTAATTGCTACTAGGGCTGGGATTTTTTCATGTTTATTGGCCCCTCTACATTTTTTTCTTTAAAAAAATTCACAAAGCATGTTTATATTTGTTAGCTCTTTTGATTCTCCCTATGATAGTGTGAAGACAGGGACAAAACGCTACCATTTCACACTCCCAGATCTAACAATAGCTACCAAGTAATTATGCCATGCGTTTCTTCTAACCTTCGCAATATCACTACGAGGTAGTTCTTACTATCCTCATTTTACAGATAAGGAAACTGAGGCTAAGTGACGCTGGCAGACTTGCCCAAGGCCACACAGCTGGTAACAGGGACTGGTAGTCACTTGAGTCCTACATGAGCACCCTTGCTACTACAGCAGCTCCTCCCCTTTCTAGAGGCCTAGATGGAAAGATGCTGGTGTCAGCGGGGGGCACAAAGGTCCACCCAGTCCCACACATGCAGAGAGGCATCATTTGTTGCTGATAACAAAGTCCTTGGTCTGCAGGGATGCCAGGTGTAGGTGGTGACCAAAGGAGCAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATACTTTTTATAATTTGTTCTATGGTACCAAAACAGGCTATTGGATGAGGAATCAAGGCACTTAAAAGGCTAACCACGGGCAAGTAGCATCTGCCCTCAGTGTTGGCAGCTGATGACTCCGTGGGGCATGTAACCATGAGCATCCGTTGTGCACCTGTTATGCGTGAGGCTCGAAGGCTAATTCTGGACAAGTATTAGCTCTTTTAATCCTCAGAACTGTATGACACAGATACTGTTATTTTACCCAGGAAACTGAGGCTTAAGAGACTTCTTCAAACCTTTTCAAGTTGCCCCAGAGTCCAGTCCCCTACCTCTGGGTCCCTTTCAGCAGATGGCCTTGTCTCCTACTCGATGGGGGAAACAGAAGCCTTTGGAGAGAAATACCTTCACGTCCCTGCACGATCTAGCTGCACACACACTCATTCCATCCTGCCATCTTCCTGGTACTGAAGAGCCAGCCCCTCTACCTGAGCTTGGCTCTTCTGTTCTTTCTGGATCCTGGCATTTCCAATCATCCTTTCTTGCTCTCTTAATGATTTTTTTCAACCCCCACCTGCCTCGACGGATCCTTCCTGTTGGCTTTTAGATACCCACATTAAGTGCCGCAAGCAACTAGCTACCACCAGACCAGAACCAGGGGCCTGCTGACCTAGCTGGCTTGCTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGTCTGGAGTGCAGTGGCGTCATCTCAGCTCACTGCAACCTCTGACTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGGTGGGACTACAGGCGTGCACCAAAACACCCGGCTAATTTTTTTTATTTTCATAGAGACGGGGTTTCACCATGTTGGCCACGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCGGCCAACTTGCTACATTTCAAAAGGCAAGTAGGCTGAGAAGTACCCTTGAGGTGCTGTCCCTGCTGCTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCACTGTCCCCTTTTCTTTCTGACCCAGCCCGATGTCTGTCCCAGTGTCTTACTGTCTGCAGGCCCCTCCACCAACCTGAGACCTGAATTCCTGCTAGGCTAGGAAAGGCCTGCTGCCAATGTGTGGAAGTTTAGTAGCCAGGGTAGGAAAAGGCCTGCCACTGAAGAACCTGGAGAGTTCGAATTTCTCTGTGAGCAACTTTAACTCCTGGAGCCAGGTTTATCATGGTGCTGGAGGCTCCTTCCTGAGCACCCAACAGTCTCCTGGAAGAAAGAGATCAGATAACAAGACGAAATCCTGCTCGGCAGTACCTGAGATGGCCAAGCAATTCTTCAGGCCTGGGGCCCAAGTCACTCGCAGCAGCTCTGGGTCAGGGCTAGGTACGGATACTGGGCACTGGACTGAGCTCACAGGATGGCAGAGATCCCGGGGGTCAAGAAGACAAAGACGCCCATC
Task1_train_21785
The gene AGBL1 (AGBL carboxypeptidase 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Corneal dystrophy, Fuchs endothelial, 8
TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAACGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAATGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
Task1_train_21786
Here is a genetic alteration in AGBL1 (AGBL carboxypeptidase 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Fuchs' endothelial dystrophy
TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAACGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAATGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
Task1_train_21787
A mutation on Chromosome 15 affecting ACAN (aggrecan) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Short stature and advanced bone age, with early-onset osteoarthritis
GTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCAGGGCCTGCATGGGTCCATCCTCCTACGGGGACACCATACCCCTGGTGGGAGCCACCCTGGGCCCAAGGGAGGGGCCAAGGAGTGGCTGTTTGTATGGGGTGTGGGCAGAGCAGGGCTGTGGGGCTGAGATAAGCACAGCAGCACATGAGACCCCCTCACAGTGCAGTCAGTGTGGGAAAAAGAAGGCGGCCCAGCTCCCCATGCTCCCACCCAGCCACTACAGCCCAAGGCAAAACACCAAGTAATCCAAGAATTCTGAATTTAAATCTGTGCTTTCAGGTCATTTTGAAAGGTACCATTGTCAAATAGGAAGATAGGACATAGAACTTAACAATCTGTTGGCCTGATTTACAACTTTTGCATCTGTAGACATATGGGACAAGGGCCTTCATTTGTACTGTTGCTGGGAGACCCACAGCCATGCAGCCCCTGGCTGTACCCAGGGGTGGTCCGCCCACACAGGGAAACCAGTTCATTAGGTTTGAGTGGGGCTTTAAAAACTGCTGAGCTGGGCACGACAGTCCCTTTCAGCTCTCCCCTGAGAACCACTACTGCTAAAACCAAGCCATGTCCAGGGTGCGAGGGCCCAGCACTCGGAGGAAGATGCCTGTGGAAGGGGCCAGTGGGACTGCCCAGGACATCAGAAGGTTAAGGCCTGGACTCTAAGCATTCCTCGCTCCCCTCCCCTTGCCCTGTGATGTATCTACAACCCACAAATATCTGAAACATTTTTTATTTCAACCTGTAGGCCCCCATGAAAGAACAGGTTTCATAAATGTATGAGTCTCCATGAAAGGTGCTTTTTTTTTTTTTTTGGAAAGCTGTTTTTTTTCTTTTTTTTTTTTCCCCATTCCCAGCAGATCTTTTGTTTCTAACAAGATTTGGTAAGCTTGTTGCACCTCCTCTATTGACACTCTCCATTATATTAACATGTTTGGAGTCTGATCCTATCCCATCGCCTCTCCTGCATCTGACTGTTTGCACACCAAAAGGTCTGATCTTCTCGGATGCTTCTCCACCTGAGTCCCCTGACTCCCAAACAGCAGAAGAGAGTGACTTGTCCCGGTGGCAAAATCAGGCTCGCACCCAAAAGCAGACCTCCCCAAATGGGACACATCTTAGAAGTTTTCTGTCTCAGCTTTAAAATTGTGTAGATTACTTTTCTACCCCAACATAATTTTTCCCAAAATCTTTGAGTTAAGCTGTCACTCCAAGGAGATGGGTCCTGTTTTATTCCACGCTTTGGTGCCCACTGCAGTACCCCAGTTTGAGAAACAGGGAGTTGGTCCTGACTCTGACGTCTCCCCTCCCTCCTCTGGAATCCTTTTCTAGCTCCATAGTTTCTGTCTCGAGATGCAGAGGCCAGGGGTCTTGAGGAACACTGCTCTGGAAAGGGCGTGGCAAGCCTTTCTGGGAATTCCCACATGACACGGGAGCATCCCCATCATAGAGACAGACACACTCATCGGATTTCGCTCTCTCAGGAGAGTGCATTGCTGGAAGGATGGATGGGGAGGCGGGGTGGTCCTCTCTAGGCACTAACAGGTCTCTCTTCTACCCCACCTCTCCCACACAGACCATGACAACTCGCTGAGTGTCAGCATCCCCCAACCGTCCCCGCTGAGGGTCCTCCTGGGGACCTCCCTCACCATCCCCTGCTATTTCATCGACCCCATGCACCCTGTGACCACCGCCCCTTCTACCGCCCCACTGGCCCCAAGAATCAAGTGGAGCCGTGTGTCCAAGGAGAAGGAGGTAGTGCTGCTGGTGGCCACTGAAGGGCGCGTGCGGGTCAACAGTGCCTATCAGGACAAGGTCTCACTGCCCAACTACCCGGCCATCCCCAGTGACGCCACCTTGGAAGTCCAGAGCCTGCGCTCCAATGACTCTGGGGTCTACCGCTGCGAGGTGATGCATGGCATCGAGGACAGCGAGGCCACCCTGGAAGTCGTGGTGAAAGGTGAGAGCCTCCCACAGGGACAGACGCTGCTTCACCCACATAAAGAACCAGAGCAGTCTCCGCAGTGCAGGCGCAGGCAGGCTGGCCTTCAAACCAGCTCCTCCACGCACCTCAGCCAAGTTACTTAACTTCAGCTGCTTCCTCTGTGACATGGAGCTGGTAATATCATTCTCTCTGGACTTAGGGAGCATTAAATACTTCCTGGCTGTGGTCACAGGTAACTGACAGTTTGTGCTTCCCAAGAATCCTGTGATCCGGTGGGTCTTGTGATCGTGCCCATTTTACAGACAAGCAAACTGAGGGCAAGTGACTTGCCTGAGGTTACCCTGGAAATGAGTCAGAGCAGTCTCCTGACAGTTCATCCTGGTGTCTTTTCCCTCCCCCTCTCCACTCTTATTCTCAGTTCCAGAAGCCAAAGCAAGGGCTGAAGACTCCCTGGTCTCTTTCTCTCCATGGCCCAAGGAGAACAGTCAGGTCTTTGGTTAGCTTCAGGACTTTGGTCAACACCAGATTTTTCCCAGGGGGAGGTACAGTGGGAGACTCTGTCAAAGACAGTTCACTCCTGGGCACACCTTAAATGAGGTTTCCACTAGGGTGGCCCTGGGCTGAGGGTGCAGGGCATTCTGAGTGTCTGTTTCTCTTAATGCAATATGGGGGTCTTGGAGTGATAAGAAAAAATTATAAGGAGGCAGATTTTAGTTTAATTCAAAGAACTTTCTCTTTATCAGTATTATCATAAGTCTTTAAAAAGGAATGCCTTATAAAGTAGTGAGCTCCCCATTACAGGGTGTTCCAGCAAATTCAGAAGGATCACGTGCAAAGGTGTACAGGGAGTCATGCATCAGCCCAGACCAGCCAGTTCCCTAAGGTCCCTTTGACTATTGCCATAATTCTGCGAGGGCCTCGGTGATCAGAGACTGTGCCTGACCAGCTCTTCCGCTTGTGGGCGTGTATGTGTCTTGCAGGCATCGTGTTCCATTACAGAGCCATCTCTACACGCTACACCCTCGACTTTGACAGGGCGCAGCGGGCCTGCCTGCAGAACAGTGCCATCATTGCCACGCCTGAGCAGCTGCAGGCCGCCTACGAAGACGGCTTCCACCAGTGTGACGCCGGCTGGCTGGCTGACCAGACTGTCAGGTGAGCCCTAGCCCATCAGCTAGTGGGGGCCAGGAGTCAGCAGCCACAGGGGAGTGGGGCGGGTGCTGGGTGGAACGTTGGCCAGCACTGAGCTGGTGCCAGCATGACACTGTGGCCAGCCTAGGTTAGAGGCCGTGGTCACACCTTGGCCAAACAGCAGCTCAATGACCCATCCCAAACCCTTGTTATTGTGATTCTCTCTTGCAAATGGGATGAGGGACTGCTAGCAACCTTGCCCTACATGTCATTATTTTTCCTACCCATTTTTTTCTTTGCCATGATTTCCTCACGTTTAAACTTTGGTGTCCTCTGTATTTTTATAAACAAACTTCCATCCTTTTTGTTTTTAATAAGGCAAGTTATAAATTGAACCCCTTGGTACATCCTTCCCTGAGCGTAGTTGCTGAGGAGTGAGGTGCAGAGCAGTCCAGATAGACCCTGCCCTCAAGGGATCTCAATGCACTGTGAAGGCAAGATGATATCACCCATTTCAGGAGCATCATAGCTCCAACAGCCAAAAACACAAAGCCTCAGGAAGGAAAATGTCTTTGCAGTCTCGGGGTAGGAAAACAGATCTTAGGATACAAAAACTATAGCCATAAAAAAAAAAAAAAGATGAGATAATAGTCTAGCATAGAGCAAGAGCCCACACCTGGGGGCATAAAGAACTGGACTC
GTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCAGGGCCTGCATGGGTCCATCCTCCTACGGGGACACCATACCCCTGGTGGGAGCCACCCTGGGCCCAAGGGAGGGGCCAAGGAGTGGCTGTTTGTATGGGGTGTGGGCAGAGCAGGGCTGTGGGGCTGAGATAAGCACAGCAGCACATGAGACCCCCTCACAGTGCAGTCAGTGTGGGAAAAAGAAGGCGGCCCAGCTCCCCATGCTCCCACCCAGCCACTACAGCCCAAGGCAAAACACCAAGTAATCCAAGAATTCTGAATTTAAATCTGTGCTTTCAGGTCATTTTGAAAGGTACCATTGTCAAATAGGAAGATAGGACATAGAACTTAACAATCTGTTGGCCTGATTTACAACTTTTGCATCTGTAGACATATGGGACAAGGGCCTTCATTTGTACTGTTGCTGGGAGACCCACAGCCATGCAGCCCCTGGCTGTACCCAGGGGTGGTCCGCCCACACAGGGAAACCAGTTCATTAGGTTTGAGTGGGGCTTTAAAAACTGCTGAGCTGGGCACGACAGTCCCTTTCAGCTCTCCCCTGAGAACCACTACTGCTAAAACCAAGCCATGTCCAGGGTGCGAGGGCCCAGCACTCGGAGGAAGATGCCTGTGGAAGGGGCCAGTGGGACTGCCCAGGACATCAGAAGGTTAAGGCCTGGACTCTAAGCATTCCTCGCTCCCCTCCCCTTGCCCTGTGATGTATCTACAACCCACAAATATCTGAAACATTTTTTATTTCAACCTGTAGGCCCCCATGAAAGAACAGGTTTCATAAATGTATGAGTCTCCATGAAAGGTGCTTTTTTTTTTTTTTTGGAAAGCTGTTTTTTTTCTTTTTTTTTTTTCCCCATTCCCAGCAGATCTTTTGTTTCTAACAAGATTTGGTAAGCTTGTTGCACCTCCTCTATTGACACTCTCCATTATATTAACATGTTTGGAGTCTGATCCTATCCCATCGCCTCTCCTGCATCTGACTGTTTGCACACCAAAAGGTCTGATCTTCTCGGATGCTTCTCCACCTGAGTCCCCTGACTCCCAAACAGCAGAAGAGAGTGACTTGTCCCGGTGGCAAAATCAGGCTCGCACCCAAAAGCAGACCTCCCCAAATGGGACACATCTTAGAAGTTTTCTGTCTCAGCTTTAAAATTGTGTAGATTACTTTTCTACCCCAACATAATTTTTCCCAAAATCTTTGAGTTAAGCTGTCACTCCAAGGAGATGGGTCCTGTTTTATTCCACGCTTTGGTGCCCACTGCAGTACCCCAGTTTGAGAAACAGGGAGTTGGTCCTGACTCTGACGTCTCCCCTCCCTCCTCTGGAATCCTTTTCTAGCTCCATAGTTTCTGTCTCGAGATGCAGAGGCCAGGGGTCTTGAGGAACACTGCTCTGGAAAGGGCGTGGCAAGCCTTTCTGGGAATTCCCACATGACACGGGAGCATCCCCATCATAGAGACAGACACACTCATCGGATTTCGCTCTCTCAGGAGAGTGCATTGCTGGAAGGATGGATGGGGAGGCGGGGTGGTCCTCTCTAGGCACTAACAGGTCTCTCTTCTACCCCACCTCTCCCACACAGACCATGACAACTCGCTGAGTGTCAGCATCCCCCAACCGTCCCCGCTGAGGGTCCTCCTGGGGACCTCCCTCACCATCCCCTGCTATTTCATCGACCCCATGCACCCTGTGACCACCGCCCCTTCTACCGCCCCACTGGCCCCAAGAATCAAGCGGAGCCGTGTGTCCAAGGAGAAGGAGGTAGTGCTGCTGGTGGCCACTGAAGGGCGCGTGCGGGTCAACAGTGCCTATCAGGACAAGGTCTCACTGCCCAACTACCCGGCCATCCCCAGTGACGCCACCTTGGAAGTCCAGAGCCTGCGCTCCAATGACTCTGGGGTCTACCGCTGCGAGGTGATGCATGGCATCGAGGACAGCGAGGCCACCCTGGAAGTCGTGGTGAAAGGTGAGAGCCTCCCACAGGGACAGACGCTGCTTCACCCACATAAAGAACCAGAGCAGTCTCCGCAGTGCAGGCGCAGGCAGGCTGGCCTTCAAACCAGCTCCTCCACGCACCTCAGCCAAGTTACTTAACTTCAGCTGCTTCCTCTGTGACATGGAGCTGGTAATATCATTCTCTCTGGACTTAGGGAGCATTAAATACTTCCTGGCTGTGGTCACAGGTAACTGACAGTTTGTGCTTCCCAAGAATCCTGTGATCCGGTGGGTCTTGTGATCGTGCCCATTTTACAGACAAGCAAACTGAGGGCAAGTGACTTGCCTGAGGTTACCCTGGAAATGAGTCAGAGCAGTCTCCTGACAGTTCATCCTGGTGTCTTTTCCCTCCCCCTCTCCACTCTTATTCTCAGTTCCAGAAGCCAAAGCAAGGGCTGAAGACTCCCTGGTCTCTTTCTCTCCATGGCCCAAGGAGAACAGTCAGGTCTTTGGTTAGCTTCAGGACTTTGGTCAACACCAGATTTTTCCCAGGGGGAGGTACAGTGGGAGACTCTGTCAAAGACAGTTCACTCCTGGGCACACCTTAAATGAGGTTTCCACTAGGGTGGCCCTGGGCTGAGGGTGCAGGGCATTCTGAGTGTCTGTTTCTCTTAATGCAATATGGGGGTCTTGGAGTGATAAGAAAAAATTATAAGGAGGCAGATTTTAGTTTAATTCAAAGAACTTTCTCTTTATCAGTATTATCATAAGTCTTTAAAAAGGAATGCCTTATAAAGTAGTGAGCTCCCCATTACAGGGTGTTCCAGCAAATTCAGAAGGATCACGTGCAAAGGTGTACAGGGAGTCATGCATCAGCCCAGACCAGCCAGTTCCCTAAGGTCCCTTTGACTATTGCCATAATTCTGCGAGGGCCTCGGTGATCAGAGACTGTGCCTGACCAGCTCTTCCGCTTGTGGGCGTGTATGTGTCTTGCAGGCATCGTGTTCCATTACAGAGCCATCTCTACACGCTACACCCTCGACTTTGACAGGGCGCAGCGGGCCTGCCTGCAGAACAGTGCCATCATTGCCACGCCTGAGCAGCTGCAGGCCGCCTACGAAGACGGCTTCCACCAGTGTGACGCCGGCTGGCTGGCTGACCAGACTGTCAGGTGAGCCCTAGCCCATCAGCTAGTGGGGGCCAGGAGTCAGCAGCCACAGGGGAGTGGGGCGGGTGCTGGGTGGAACGTTGGCCAGCACTGAGCTGGTGCCAGCATGACACTGTGGCCAGCCTAGGTTAGAGGCCGTGGTCACACCTTGGCCAAACAGCAGCTCAATGACCCATCCCAAACCCTTGTTATTGTGATTCTCTCTTGCAAATGGGATGAGGGACTGCTAGCAACCTTGCCCTACATGTCATTATTTTTCCTACCCATTTTTTTCTTTGCCATGATTTCCTCACGTTTAAACTTTGGTGTCCTCTGTATTTTTATAAACAAACTTCCATCCTTTTTGTTTTTAATAAGGCAAGTTATAAATTGAACCCCTTGGTACATCCTTCCCTGAGCGTAGTTGCTGAGGAGTGAGGTGCAGAGCAGTCCAGATAGACCCTGCCCTCAAGGGATCTCAATGCACTGTGAAGGCAAGATGATATCACCCATTTCAGGAGCATCATAGCTCCAACAGCCAAAAACACAAAGCCTCAGGAAGGAAAATGTCTTTGCAGTCTCGGGGTAGGAAAACAGATCTTAGGATACAAAAACTATAGCCATAAAAAAAAAAAAAAGATGAGATAATAGTCTAGCATAGAGCAAGAGCCCACACCTGGGGGCATAAAGAACTGGACTC
Task1_train_21788
A mutation on Chromosome 15 affecting ACAN (aggrecan) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Spondyloepimetaphyseal dysplasia, aggrecan type
TTTCTTCATTTCCAAGACACTTTACACAGTTCCATTAGAAAGCATTTGGACACGTTGCTGAGCTCTTGAGAGAAAAATTTTACTGTGGAAAGAATGGAGTTTAGATTCTACATTTGAGCTTAAAGTGGGGCAGAGTTAATAAACCCACACTTCATCTTTCTTCCTTCTTTCCTACAGGGATCCTTCCTACTTGGCCTCCCACTGGCGCAGCAACAGAGGAAAGTACAGAAGGCCCTTCTGCAACTGAAGTGCCCTCTGCCTCAGAGGAACCATCCCCCTCAGAGGTGCCATTCCCCTCAGAGGAGCCATCCCCCTCAGAGGAACCATTCCCCTCAGTGAGGCCATTCCCCTCAGTGGAGCTGTTCCCCTCAGAGGAGCCATTCCCCTCCAAGGAGCCATCCCCCTCAGAGGAACCATCAGCCTCGGAAGAGCCGTATACACCTTCACCCCCCGTGCCCAGCTGGACTGAGCTGCCCAGCTCTGGGGAGGAATCTGGGGCCCCTGATGTCAGTGGTGACTTCACAGGCAGTGGAGATGTTTCAGGACACCTTGACTTCAGTGGGCAGCTGTCAGGGGACAGGGCAAGTGGACTGCCCTCTGGAGACCTGGACTCCAGTGGTCTTACTTCCACAGTGGGCTCAGGCCTGCCTGTGGAAAGTGGACTACCCTCAGGGGATGAAGAGAGAATTGAGTGGCCCAGCACTCCTACGGTTGGTGAACTGCCCTCTGGAGCTGAGATCCTAGAGGGCTCTGCCTCTGGAGTTGGGGATCTCAGTGGACTTCCTTCTGGAGAAGTTCTAGAGACCTCTGCCTCTGGAGTAGGAGACCTCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGTGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACA
TTTCTTCATTTCCAAGACACTTTACACAGTTCCATTAGAAAGCATTTGGACACGTTGCTGAGCTCTTGAGAGAAAAATTTTACTGTGGAAAGAATGGAGTTTAGATTCTACATTTGAGCTTAAAGTGGGGCAGAGTTAATAAACCCACACTTCATCTTTCTTCCTTCTTTCCTACAGGGATCCTTCCTACTTGGCCTCCCACTGGCGCAGCAACAGAGGAAAGTACAGAAGGCCCTTCTGCAACTGAAGTGCCCTCTGCCTCAGAGGAACCATCCCCCTCAGAGGTGCCATTCCCCTCAGAGGAGCCATCCCCCTCAGAGGAACCATTCCCCTCAGTGAGGCCATTCCCCTCAGTGGAGCTGTTCCCCTCAGAGGAGCCATTCCCCTCCAAGGAGCCATCCCCCTCAGAGGAACCATCAGCCTCGGAAGAGCCGTATACACCTTCACCCCCCGTGCCCAGCTGGACTGAGCTGCCCAGCTCTGGGGAGGAATCTGGGGCCCCTGATGTCAGTGGTGACTTCACAGGCAGTGGAGATGTTTCAGGACACCTTGACTTCAGTGGGCAGCTGTCAGGGGACAGGGCAAGTGGACTGCCCTCTGGAGACCTGGACTCCAGTGGTCTTACTTCCACAGTGGGCTCAGGCCTGCCTGTGGAAAGTGGACTACCCTCAGGGGATGAAGAGAGAATTGAGTGGCCCAGCACTCCTACGGTTGGTGAACTGCCCTCTGGAGCTGAGATCCTAGAGGGCTCTGCCTCTGGAGTTGGGGATCTCAGTGGACTTCCTTCTGGAGAAGTTCTAGAGACCTCTGCCTCTGGAGTAGGAGACCTCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAATTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGTGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACA
Task1_train_21789
This alteration occurs within gene ACAN (aggrecan) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Spondyloepimetaphyseal dysplasia, aggrecan type
GCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGTGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACACACACCCCAGCTTTTTGAGTCCAGTGGAAAAGTCTCCACAGCTGGGGACATTAGTGGAGCTACCCCAGTGCTCCCTGGGTCTGGAGTAGAAGTATCATCAGTCCCAGAATCTAGCAGTGAGACGTCCGCCTATCCTGAAGCTGGGTTCGGGGCATCTGCCGCCCCTGAGGCCAGCAGAGAAGATTCTGGGTCCCCTGATCTGAGTGAAACCACCTCTGCATTCCACGAAGCTAACCTTGAGAGATCCTCTGGCCTAGGAGTGAGCGGCAGCACTTTGACATTTCAAGAAGGCGAGGCGTCCGCTGCCCCAGAAGTGAGTGGAGAATCCACCACCACCAGTGATGTGGGGACAGAGGCACCAGGCTTGCCTTCAGCCACTCCCACGGCTTCTGGAGACAGGACTGAAATCAGCGGAGACCTGTCTGGTCACACCTCGCAGCTGGGCGTTGTCATCAGCACCAGCATCCCAGAGTCTGAGTGGACCCAGCAGACCCAGCGCCCTGCAGAGACGCATCTAGAAATTGAGTCCTCAAGCCTCCTGTACTCAGGAGAAGAGACTCACACAGTCGAAACAGCCACCTCCCCAACAGATGCTTCCATCCCAGCTTCTCCGGAATGGAAACGTGAATCAGAATCAACTGCTGCAGGTATTGTGATTTTTTCCCCCTTTAAATGTGCTTAGGTAGTTCAGACTGTAGCCTACTGCAGCACAGAAGGAGGCAGCATAGCTTTAAGGTTCCAAGAACAACTCCACCAAAGGTTAGCTGTGCAGCCTCAGGCAATAGTCTTCCCCTCTCTGAGCCTCATCTGTAACGTAAGAGTAGGATAATACTCTACCAGGGAAGATTAGGCAGAACATAAACATAGATAGATAAAGCAAGCACTTAGCATCACGCTCTGCATGCAGTGCACACTTGTAAAGA
GCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGAGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACACACACCCCAGCTTTTTGAGTCCAGTGGAAAAGTCTCCACAGCTGGGGACATTAGTGGAGCTACCCCAGTGCTCCCTGGGTCTGGAGTAGAAGTATCATCAGTCCCAGAATCTAGCAGTGAGACGTCCGCCTATCCTGAAGCTGGGTTCGGGGCATCTGCCGCCCCTGAGGCCAGCAGAGAAGATTCTGGGTCCCCTGATCTGAGTGAAACCACCTCTGCATTCCACGAAGCTAACCTTGAGAGATCCTCTGGCCTAGGAGTGAGCGGCAGCACTTTGACATTTCAAGAAGGCGAGGCGTCCGCTGCCCCAGAAGTGAGTGGAGAATCCACCACCACCAGTGATGTGGGGACAGAGGCACCAGGCTTGCCTTCAGCCACTCCCACGGCTTCTGGAGACAGGACTGAAATCAGCGGAGACCTGTCTGGTCACACCTCGCAGCTGGGCGTTGTCATCAGCACCAGCATCCCAGAGTCTGAGTGGACCCAGCAGACCCAGCGCCCTGCAGAGACGCATCTAGAAATTGAGTCCTCAAGCCTCCTGTACTCAGGAGAAGAGACTCACACAGTCGAAACAGCCACCTCCCCAACAGATGCTTCCATCCCAGCTTCTCCGGAATGGAAACGTGAATCAGAATCAACTGCTGCAGGTATTGTGATTTTTTCCCCCTTTAAATGTGCTTAGGTAGTTCAGACTGTAGCCTACTGCAGCACAGAAGGAGGCAGCATAGCTTTAAGGTTCCAAGAACAACTCCACCAAAGGTTAGCTGTGCAGCCTCAGGCAATAGTCTTCCCCTCTCTGAGCCTCATCTGTAACGTAAGAGTAGGATAATACTCTACCAGGGAAGATTAGGCAGAACATAAACATAGATAGATAAAGCAAGCACTTAGCATCACGCTCTGCATGCAGTGCACACTTGTAAAGA
Task1_train_21790
This sequence variant lies in ACAN (aggrecan) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
TCCTACTCCCTTGCAGCCTCCCACCCTCCATCCTCACCCCAAGACCCCAAGAAATTGGTATATGGGGTCTTGGCTGGGGTGGAAGCAGAGACTACAAGGATTTTCTCCCCATGATACCACAACATTTGCCACAGGGTAGAAGAGTCTGGGACTTCCATGCCGACAACAGCTATTTGGTTCCAGACTGGAAAAGTGGGCTCTGCTGGAATGGAGGCAGGACCCTCACAGGGCTCTGTACCCTGATGGGGCAGAGAGATGGTGACAGAGCCACCCAGCTCGGCCCTGGGCCTGGGGGCCCAGCTAAGCAGGGCTGCATCTCCTCTCCCATTCCAATCCTGAGTCCTCACCACTCCACGGTGCCTCCTGCCTTGGCTCTGTCCCTGTTACCTCTTTCAGTCTGGAATTGTTTCTGTTTCCTAAGAATCTTCAGCCTGCACAGCCCTGCCCTCCCATACCCACCTCCCAGAGAAGTTGCACCCTCCAGCTCTGCCTGCCCAGCTCAGCCCTTAGCCACTGAAGGGGCCAAAAACTGACCCCCTAAGTCAGCCCTAAGATGATATCTCTGGCCTCTTCAGAGTGCTGAGCTAGTCTGAGGCCTCTCCACCTCTTTCCAGACTGCAGCCTCACCCCTTGGGGAAGGCATTCATAGCTGAGGCACCAGAGGCCTCCACGGCCCCTCCTACAGCTCTGTTCTTTCTTCTCAAGCTGCTGACCCCCTGTTCTGCTCTCCCTCCACTGTCCCCAACTGTCTCTCCCCCACTTTGCCAAGCATCCACCCCTTCAGCCTAAGACTCCTTCCCCTCGGGTACTGGTCCTTCCATTCCAGGACAGCCAGAGTATGGTGGCACCCAATCAGGGAGACCACCATGCAGCCTGAGGGGTTTGTGACCCTCCACCTGGGAGATCCCAGGGGAAGAAGGAAGAAGGGGGGCCTTGGAATTCACTCTGTCCCACACTGTGCTGGCAGATGTTTAACAACCAGCTCTCATAGAGGAGAAAGGAGCCCTGATTGTAGCATCTGCCAATTCCTGAGGTGTAAATGCTTCCACCGGGGCCAGTTTAAAGCTATCAACATGATGTCACTGAAGGCGAGGTTGAGAGGAGACACTAACAATGAGCTCTCTCAAAGCTGAGTGAGCCAGCTCAGCATGGCTCCGCCTGTCCCCTAGGCTGTCCAAGAACTCCAAGCCAGCCCCTTCTCCAGACTGAGAACCCATTACGAATTTAGGTTTGTGAGGAGAGAAGCTCCTCCCCTCTTCCCATTCACCCCCAAAATAAAAAGCCAGGGCCCCTGGATCCCAGACCCCCAATGGGCTATCTGACCCCTGCAAGAGGCAGGCACAGTGTGCTTAACTAAAGCCAACTCTGATCAACAGCCTTAGAGCTCTGAGTCTTCTCCAGACCCCAAGCAGACTTATTTCTGCTCCTCTGTTCCCACCTGAGGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCA
TCCTACTCCCTTGCAGCCTCCCACCCTCCATCCTCACCCCAAGACCCCAAGAAATTGGTATATGGGGTCTTGGCTGGGGTGGAAGCAGAGACTACAAGGATTTTCTCCCCATGATACCACAACATTTGCCACAGGGTAGAAGAGTCTGGGACTTCCATGCCGACAACAGCTATTTGGTTCCAGACTGGAAAAGTGGGCTCTGCTGGAATGGAGGCAGGACCCTCACAGGGCTCTGTACCCTGATGGGGCAGAGAGATGGTGACAGAGCCACCCAGCTCGGCCCTGGGCCTGGGGGCCCAGCTAAGCAGGGCTGCATCTCCTCTCCCATTCCAATCCTGAGTCCTCACCACTCCACGGTGCCTCCTGCCTTGGCTCTGTCCCTGTTACCTCTTTCAGTCTGGAATTGTTTCTGTTTCCTAAGAATCTTCAGCCTGCACAGCCCTGCCCTCCCATACCCACCTCCCAGAGAAGTTGCACCCTCCAGCTCTGCCTGCCCAGCTCAGCCCTTAGCCACTGAAGGGGCCAAAAACTGACCCCCTAAGTCAGCCCTAAGATGATATCTCTGGCCTCTTCAGAGTGCTGAGCTAGTCTGAGGCCTCTCCACCTCTTTCCAGACTGCAGCCTCACCCCTTGGGGAAGGCATTCATAGCTGAGGCACCAGAGGCCTCCACGGCCCCTCCTACAGCTCTGTTCTTTCTTCTCAAGCTGCTGACCCCCTGTTCTGCTCTCCCTCCACTGTCCCCAACTGTCTCTCCCCCACTTTGCCAAGCATCCACCCCTTCAGCCTAAGACTCCTTCCCCTCGGGTACTGGTCCTTCCATTCCAGGACAGCCAGAGTATGGTGGCACCCAATCAGGGAGACCACCATGCAGCCTGAGGGGTTTGTGACCCTCCACCTGGGAGATCCCAGGGGAAGAAGGAAGAAGGGGGGCCTTGGAATTCACTCTGTCCCACACTGTGCTGGCAGATGTTTAACAACCAGCTCTCATAGAGGAGAAAGGAGCCCTGATTGTAGCATCTGCCAATTCCTGAGGTGTAAATGCTTCCACCGGGGCCAGTTTAAAGCTATCAACATGATGTCACTGAAGGCGAGGTTGAGAGGAGACACTAACAATGAGCTCTCTCAAAGCTGAGTGAGCCAGCTCAGCATGGCTCCGCCTGTCCCCTAGGCTGTCCAAGAACTCCAAGCCAGCCCCTTCTCCAGACTGAGAACCCATTACGAATTTAGGTTTGTGAGGAGAGAAGCTCCTCCCCTCTTCCCATTCACCCCCAAAATAAAAAGCCAGGGCCCCTGGATCCCAGACCCCCAATGGGCTATCTGACCCCTGCAAGAGGCAGGCACAGTGTGCTTAACTAAAGCCAACTCTGATCAACAGCCTTAGAGCTCTGAGTCTTCTCCAGACCCCAAGCAGACTTATTTCTGCTCCTCTGTTCCCACCTGAGGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCCGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCA
Task1_train_21791
A variant was discovered on Chromosome 15, affecting ACAN (aggrecan). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCATCAAGAAGCCTGAGTCTGCCTGGCTCTCGCCCTCCACACCTTTCTACCTCCCTTTCATCTTCTCTTCATCCCTTTAAAGACCACCCCGTTTGTATTCCCTTCCTGCTGTTCTAAATTGTTGAGGAACCCAGATGTTACAGCCAGCGGCTTCCAGATTCTTAGCGCTGCATGAAAACGTCCAGGGCTCACTGTCAGATGTTGAGGCTGTGTCCCCCACAGTGCCTCGGGTCACAACCAGCATAGGTCATCCCAGGAGACCCTATGAGACCCTTTATAAAGGGTGTTTGCCCCTCAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTCGGGCAGAAGAAGGACCGGTATGAGATCAATTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGGTGCCAGCCCAGCGGGCACTGGGAGGAGCCTCAGATCACCTGCACAGACCGTGAGCATCACCCCGGCCATCTCGCTGAGCACAGGGTTAGATTCTGCCAGCACAGCCTTCCCCCCGTCCCCTCTCCTGGGGACCCTACACCGTCCACAGGGTTGAGCAAGGGAAGGGAGGTCGGGGGGCTGCTCAGTCACAAATAGCTGACCACTGCCCTTAGAAGGGCCACGTACTTGTCCCAGGAGAGGGCTCACTTGGAGGATGAAGGAGAAAAAGCCAGAAAGTCCAAGAAAAATCCAAATCAGGAAAGCCGATAAAGCCTCAGGCGCCTGAGTCCTGGTTTCCACAAGGGAGAGAGGGTAGTCTGGGGAGAGCCTGGGCTCGCCCCACTTTCTTTCCAGGTCCACTGATATCTTTCCATCTCCCTTTCGTCCTAGCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGGCACCCTCGGAGGAGCCGCCCCAGCACAGCCCACTGAGAAGAGCTTCCAGGACGCACCCAGGACGCTGAGCCCAGGAGCCTGCCAGGCTGACGTGCATCCCACCCAGACGGTGTCCTCTTCTTGTCGCTTTTTGTCATATAAGGAATCCCATTAAAGAAGGAAAAAAATAAATCCCACATTTGTGTATGCACCCACTCACCCCTCCAAATCAGCAAAACCGCATCTAATTTGTCCGCCGAATGCCAAAGCAAAGCAAACTTATTATAACCCTTGGACTGAGTTTAGAGACATTTCTTCAATTTCCCATCGTGCCTTTCCAGGGACCAGTGCAGGGACAGGGGGAGAAGGGGAGGGGTTAAGTTAAATAAAGAAGATTATTTTTGTTTCCTGACTTTATCCAAGAGCAGTGCAATCGTTGGTTATTTCACCTCCAGGGAGAGCTAGGGAGGAGGGAGGAGGGCTCCAAAGGAGCTGGAAGGAGCAGAGGCCTGAGAGCAGGAAGAACTCGGAACCGCAGCTGAATGTATTGGATGAGAAGGAGCC
GGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTATGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCATCAAGAAGCCTGAGTCTGCCTGGCTCTCGCCCTCCACACCTTTCTACCTCCCTTTCATCTTCTCTTCATCCCTTTAAAGACCACCCCGTTTGTATTCCCTTCCTGCTGTTCTAAATTGTTGAGGAACCCAGATGTTACAGCCAGCGGCTTCCAGATTCTTAGCGCTGCATGAAAACGTCCAGGGCTCACTGTCAGATGTTGAGGCTGTGTCCCCCACAGTGCCTCGGGTCACAACCAGCATAGGTCATCCCAGGAGACCCTATGAGACCCTTTATAAAGGGTGTTTGCCCCTCAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTCGGGCAGAAGAAGGACCGGTATGAGATCAATTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGGTGCCAGCCCAGCGGGCACTGGGAGGAGCCTCAGATCACCTGCACAGACCGTGAGCATCACCCCGGCCATCTCGCTGAGCACAGGGTTAGATTCTGCCAGCACAGCCTTCCCCCCGTCCCCTCTCCTGGGGACCCTACACCGTCCACAGGGTTGAGCAAGGGAAGGGAGGTCGGGGGGCTGCTCAGTCACAAATAGCTGACCACTGCCCTTAGAAGGGCCACGTACTTGTCCCAGGAGAGGGCTCACTTGGAGGATGAAGGAGAAAAAGCCAGAAAGTCCAAGAAAAATCCAAATCAGGAAAGCCGATAAAGCCTCAGGCGCCTGAGTCCTGGTTTCCACAAGGGAGAGAGGGTAGTCTGGGGAGAGCCTGGGCTCGCCCCACTTTCTTTCCAGGTCCACTGATATCTTTCCATCTCCCTTTCGTCCTAGCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGGCACCCTCGGAGGAGCCGCCCCAGCACAGCCCACTGAGAAGAGCTTCCAGGACGCACCCAGGACGCTGAGCCCAGGAGCCTGCCAGGCTGACGTGCATCCCACCCAGACGGTGTCCTCTTCTTGTCGCTTTTTGTCATATAAGGAATCCCATTAAAGAAGGAAAAAAATAAATCCCACATTTGTGTATGCACCCACTCACCCCTCCAAATCAGCAAAACCGCATCTAATTTGTCCGCCGAATGCCAAAGCAAAGCAAACTTATTATAACCCTTGGACTGAGTTTAGAGACATTTCTTCAATTTCCCATCGTGCCTTTCCAGGGACCAGTGCAGGGACAGGGGGAGAAGGGGAGGGGTTAAGTTAAATAAAGAAGATTATTTTTGTTTCCTGACTTTATCCAAGAGCAGTGCAATCGTTGGTTATTTCACCTCCAGGGAGAGCTAGGGAGGAGGGAGGAGGGCTCCAAAGGAGCTGGAAGGAGCAGAGGCCTGAGAGCAGGAAGAACTCGGAACCGCAGCTGAATGTATTGGATGAGAAGGAGCC
Task1_train_21792
A mutation on Chromosome 15 affecting RLBP1 (retinaldehyde binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Retinitis punctata albescens
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21793
Here is a mutation in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Bothnia retinal dystrophy
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21794
A variant has been detected on Chromosome 15 in RLBP1 (retinaldehyde binding protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Retinal dystrophy
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21795
This variant lies on Chromosome 15 and affects the gene RLBP1 (retinaldehyde binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; RLBP1-related disorder
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21796
Given this context: Chromosome 15, gene RLBP1 (retinaldehyde binding protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Retinitis pigmentosa
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21797
This sequence change occurs on Chromosome 15, altering RLBP1 (retinaldehyde binding protein 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Newfoundland cone-rod dystrophy
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21798
Here is a mutation in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Pigmentary retinal dystrophy
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
Task1_train_21799
A variant on Chromosome 15 in gene RLBP1 (retinaldehyde binding protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Bothnia retinal dystrophy
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG