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_24600
|
This sequence variant lies in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Pancreatic cancer, susceptibility to, 4
|
AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG
|
AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACTTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG
|
Task1_train_24601
|
A mutation found in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Fanconi anemia, complementation group S
|
AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG
|
AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACTTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAG
|
Task1_train_24602
|
A variant affecting Chromosome 17, within the gene BRCA1 (BRCA1 DNA repair associated), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
ATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGA
|
ATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCCTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGA
|
Task1_train_24603
|
This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG
|
AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTAGATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG
|
Task1_train_24604
|
A mutation on Chromosome 17 affecting BRCA1 (BRCA1 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG
|
AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTAGATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG
|
Task1_train_24605
|
This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; BRCA1-related cancer predisposition
|
AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG
|
AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTATATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTG
|
Task1_train_24606
|
Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance.
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACCTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24607
|
A mutation found in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACCTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24608
|
Here is a genetic alteration in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACCTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24609
|
The following genetic variant occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24610
|
Given a variant located on Chromosome 17 and affecting BRCA1 (BRCA1 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24611
|
Gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Familial cancer of breast
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24612
|
This genomic variant is located on Chromosome 17, within the BRCA1 (BRCA1 DNA repair associated) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACGTAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGA
|
Task1_train_24613
|
Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT
|
CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGATACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT
|
Task1_train_24614
|
Here is a variant affecting BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT
|
CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGATACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT
|
Task1_train_24615
|
Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT
|
CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGATACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGT
|
Task1_train_24616
|
This variant impacts the gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC
|
CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACCCTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC
|
Task1_train_24617
|
This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC
|
CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACTCTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTC
|
Task1_train_24618
|
A mutation on Chromosome 17 affecting BRCA1 (BRCA1 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCA
|
AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGTAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCA
|
Task1_train_24619
|
Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
GAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCAC
|
GAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCTGAGTTTTCATGGACAGCACTTGAGTGTCATTCTTGGGATATTCAACACTTACACTCCAAACCTGTGTCAAGCTGAAAAGCACAAATGATTTTCAATAGCTCTTCAACAAGTTGACTAAATCTCGTACTTTCTTGTAGGCTCCTGAAATTAAATTGTTTGAGAAACACACTCAGCAAGTGATTATCAACCTTTTAAGGACACTAAAATAAGAAAAGACATGTAAACAAATAAAAATAAGATGCAGCAACAGTAGAAAACCTCTATAATCAATACATCATTGACATCTGTATAAACCGTGTGATGGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTACCAAATGCCTAAAATTATCTGATATAATACTGCCCTAAATCCACAGCAGATATAATGCATTGCATAGAAAACTAGAGTACTTTTTTTTTTGTTTAATTTAGAGACAGGGTCTTGCTCTATTGCCCAGGCTAGCATGCAGTGCCACAATCATAGCTCACTGCAGCCTCAGACTTCTGTACTCAAGCTATCCTCCCACTATAGCCTCCCAAGTAGCTAGGACTATGGGCATATGCCACCATGTACATTTATTTATTTATTTTGTTGGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTGATTTCAAACTCCTGGCCTCAAGCAATCATCCCACCTCAGCCTCCTAGAGTGCTAGGGTTATAGGCATGAGCAATCACACCCTGCTGAGCTTACTGTTCTTAACATCTGAACCCTGCCCAATCCCTCACTTAGTTCTGCCTCTCAAGGATTTCTGTCAAATTATGATTATACTTCTTTGAAAACACATAGATAACAATGTCCAAAGGGAGATTTGGGTTTAGTAAAGTGGAATTAAAGCACAATTCATTCATTCCTTTAAGCATCTGAGTGCCTACTATGTACCAAACTTAGGAAAAACAGTGTTGAGACAGACAAAATTACTACTCTCATAGAATTTACATTGTAGCAGAAGAGATACACAATATATAAATACATTGTGTTTGTGTAAATAATTAGATAGAAATAAACACACACCTGTGAACCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGCTCAGGAGTTACCAGCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAATACAAAAATTGGCCGGGCATGGTAGCGTGTGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAAGAGGCTGGGAGACAGAGGCTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTCAGTGACAGAGCAGGACCCTGTCTTAAAAAAAAAAAAAAAAAGAAAAGGAAACACAATCAAAAATATAAAAACAAGATTAACAGACAATGGGGGCACGGCGATACAGCCCTACTTTACATAAGTCTGCAAGTTTTTACACTAGAAGCATTAGAGAAAGGCAGTAAGTTTCTAATACCTGTATAAGGCAGATGTCCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCTAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATAGCCATGAAAAGATAATCTCACAACTGCCCTTAAGAGCCATTTAAAAAGTAATGGCAGGTGAATTACAAGCAATAGTTTCCTAATTGTTTTTGGATGCTGCATAAGCAAAAACCTAAACTACATAAGCAATGATCTATGAAAACTGAACTTACATGCATATGGCTTACTGTTATGATCACATAAAACTTAATAAAAGTTAATATGGCATATTTAATGATATATTCATAATTATTTCATGCTGCATAATCAAATATAAACGGTAAGTAGTTCATGTAAGATGCTTATAATTAGTTTAAAATCTCAACACCTCACCACAAAGCTATAGTAATCAAGAAAGTGTGGTAATAGCATAAGAATAGACACATACATCAATAAAATGGAATTGACAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCGACGATTTTTATTTTCTTAATTTTTTTTTTTTTTTTTTGAGACAGACTCACTCTATCACCCAGGCTGGAGGGTAGTGACACAATCTCAGCTCACTACAACCTCCACCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCATACCCAGCTAATTTTTTGTATTTTTAGTTTCACCATGTTGGCTAGTCTTGAACTCCTGGCCTCAAATTGATCCATCTGCCTTGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGGCCAAAGATGATTAAATGGGAAAATAATACTTTTTGTGTTTTTAACAAACAGTGTTGAGACAAAAGTATAACCACATGTAAAAGAATGAAATTATACTCCTATCTCACACCAAATAACAAAAGTTAACTCAAAGTGGATCATAGACCAGAAGTAGAGAGAGCAATGGTGATGATAATTAAAAGCAGCGATTCACTCATACAACCAATATTTACTATGTCTAGTACTATTCTAGATGGAGGGGATTCAATAGAAAAGCAAAATAAGATCCTGCAAAATAAAACATAAAGGACATAATATACTGGTGAAGGGGGTGACTAGGTAGGGAGTAAATAGCAGACACTGACAATGAAGAGACCCAGGAAAGAAAAGATTAAGGGGCTAAAAAAAAAGTCACTAGGGCTGTGCACGGTGGTCCACACCTGTAATCCCAGCACTTGCGGGGTGGGTGAATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAATATTCAAAAATTAGCTGGGTGTGGTGGTGGTGCACTGTAGTCCCAGTTACTCGGGAGGCTGAGGCATGAGAATAAGTTGAACCTGTGAGGCGGGGGTTACAGTGAGCCAATATTGCACCATTGCATTCCAGCCTGGGCAACAGAGTGAGATTGTGCCAAAAAAAAAAAAAAGGCATTGGGAATTGTGAGAAAAGACACTTAGAGAATATTTTTTACTAGCCAGGTAATTTAACATTTATTACCCTCTCTTGGCCGGGTGCAGTGGCTCATGTCTGCAATCCCAGGAGGCTGAGGCAGGCAGATCACTTGAGGCCTGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAACAAAATTAGCCAGGCGTGGTGGGCAC
|
Task1_train_24620
|
A genetic alteration is present in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA
|
TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGAAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA
|
Task1_train_24621
|
Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA
|
TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGTAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAA
|
Task1_train_24622
|
The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT
|
TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCGAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT
|
Task1_train_24623
|
This is a variant in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17. Is this mutation a likely cause of disease or not?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT
|
TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCTAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAAT
|
Task1_train_24624
|
This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACC
|
TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGCGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACC
|
Task1_train_24625
|
A variant was discovered in gene BRCA1 (BRCA1 DNA repair associated), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT
|
CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCCCACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT
|
Task1_train_24626
|
This variant affects gene BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT
|
CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCCCACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGT
|
Task1_train_24627
|
An alteration has been detected in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
Task1_train_24628
|
Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Breast neoplasm
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
Task1_train_24629
|
A variant has been detected on Chromosome 17 in BRCA1 (BRCA1 DNA repair associated). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
Task1_train_24630
|
A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCATACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTT
|
Task1_train_24631
|
This mutation occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTC
|
TATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACGCTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTC
|
Task1_train_24632
|
A genomic change on Chromosome 17 affects BRCA1 (BRCA1 DNA repair associated). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTCCCATC
|
TTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTTTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCACGTTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAACCTGGGCGACAGAGCTGGACTCCATCTCAAAATAATAATAAGCTTAAAAATAAAAACTTCAGAAAATACATCACCCAAGTTCCCATC
|
Task1_train_24633
|
The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
GCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCC
|
GCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGTTGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCC
|
Task1_train_24634
|
Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance.
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCA
|
TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGCCACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCA
|
Task1_train_24635
|
A change on Chromosome 17 affects gene BRCA1 (BRCA1 DNA repair associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
GCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAG
|
GCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTGAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAG
|
Task1_train_24636
|
A sequence alteration has been identified in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it disease-inducing or harmless?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCA
|
TACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCGTAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCA
|
Task1_train_24637
|
Given a variant located on Chromosome 17 and affecting BRCA1 (BRCA1 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT
|
ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCAATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT
|
Task1_train_24638
|
Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT
|
ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCGATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATT
|
Task1_train_24639
|
This variant impacts the gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT
|
TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCCTTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT
|
Task1_train_24640
|
This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT
|
TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCCTTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT
|
Task1_train_24641
|
A mutation in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
|
TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT
|
TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCTTTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTT
|
Task1_train_24642
|
The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Hereditary breast ovarian cancer syndrome
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
Task1_train_24643
|
Given this variant in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
Task1_train_24644
|
This is a variant in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17. Is this mutation a likely cause of disease or not?
|
Pathogenic; Breast neoplasm
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
Task1_train_24645
|
Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Inherited breast cancer and ovarian cancer
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
Task1_train_24646
|
A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGAGATAAAAAATGGATACATTACATAGAATGTCAGCTAGTAATCAGTGTTATGGAGAAGCAGCAGGAATAGAAGATAAAGTGTGTGCTGGGGGTGTGGTAATTTTAAATAGGGGTGTCTGGAAATGAAAAGGTGGTATTTCAATCAAGATTTTTAGACCATGGCTGGGTGCAATGGCTCAGGCCTGTAATCCCAGCACCTTGAGAGGCCAAGGGAGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAGAAAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCACACCTATCGTCCCTGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGACGAGGTTGAGGCTGCAGTGAGCTGTGATAGCACCACTGCACTCCAGCCTCTCGACAGAGATCCTATATAAAAAAAAAACCTCTGCATTTCATTGTATGTAAATAAGTATGTAATTTCATTGTATGTACAGAGCCAGTTTCAAACAAAGGTTCTTCCAAATACCTATCCTCTCAACGACACCGATCATCCATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAGCTCTGTCGCTGGAGTTCAGTGGTGCCATATTGGCTCACAGCAACATCTGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCACTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTG
|
Task1_train_24647
|
This variant impacts the gene MEOX1 (mesenchyme homeobox 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Klippel-Feil syndrome 2, autosomal recessive
|
ATGGGATATTTTTTCTTATGTCATTTTTTACTACTATTAATATACATTTTTCTACCTTGAAAAATAAAATCTCCAAACTTTGAATTTAAACATTAGGGATGGTTACTTTGTGGTCAAGATTCCTTTATTAACAAAAGAGTTCATCTTTTGTTTATAAAACATTGACTATTTGATAGGTCATAGTTTAGGGAAACTGAAAGCTAAACTTTTACAATGAGAAATGAAGACCATGCATTTGCATTGGAGAAAAATTTTTTTTTGGCACCAATTATATTTTGTACCCACCTTTTGAAAAACTAAAGGGGGACAGCTCTGTCTAGATCATTTCTTCCCTTTTTCTCTTGCTTCTAGACATTGTCTGGTCAATCAGAAGGTTGCACACAAGAGCTGTGGTTGTTCGCTCTGCAAAGAAAAAGGCCTGGGAACTTTGCTTTTTATTGATTTTATTTCTCCGAGAGTTTTCTTACAAAGTGAATTGAGCTCGCACAATTAGCTTGATGTAATCTTAAGAAAATATATGAAGTATGCTTTAGAAAAAATCATGCTCTAACCAGCCATCTCATTTGGCAATCATTTTCCACAGCTCTTGCCCTTTTTGGGGTGGGGAGGTGGGGTTATTTTTACATGTGAATGATTACATCTGCGTACAAGAGATCCAAACTCACGTTGACCTCCCTCTGCAACACCAGCTGGTGTTGGGAGACAGAGCGCTGAGGCAGCCAGGGCTTCAGTCCCCCATGCTCTTTGGCCATCAGTCCTCAAATGTCATCTCCAGAAGACCTGGCTGAGGTCTGGGCAGTCCACACACAAAAACCTAGCATTTCCTCCCACAATAACAGCATTTGTAGAACACACAGCAAGAGCTTAAATCCATCCCATGGAGGAAGAGGGATTTTCTTGTCCCCTTTTGCAGTCACAGGACACTGTCACTGGAGAACCTTCCACTCCAGGGTTCCACATCTCCAGGCCCTCACCCAGCAGCCCTCCTTATTATCTCCCCTCCCCTCCAGAATGCAGGGGACACTTTCCAGCCTCTACGTTGTTTTCAGCTCCTAGTTGTTCAGCCCAACAACTCAGCATCTGGACAGGTTTTCAATCCAGAAATCGTGGATTTAAAAGGAGTAGCTGCTCCTTTTCTCTGGAGCACAGCCCAACAGCCCCTGCTGTATCCCTAAATTGATTTTGATTTTGAAGCAGCAGGTGCTGTCATGGGTTCATTCTTGTCCACCCAGTCAAGCCTGTGTGGACGGGCCTATATGGGGACACCGAAACCTACATCGGGCTATTTTTCTGTCTTCTCTAGTCAGTTCTCAGAAGTGTCTCCACTTAGCCAACAAATTTGGAGACAGGGATGTGTTTCTGGCTTGCAGCAGCTGAGTTGCTGTCCTTGACTCTCCTCATTCTGATTTTTCTTGGGGTTTCGGGACAACTAAGGGGCCCCAAAGCCTCAGATGTGCAGCCTACAGAGGAAGGTGGGCAAGGGCGTGTGTCTCTGTCATTTCCTTCCTTTTGAAGCATTTACTTTCCGAGTCGCCAGCTGGTTCCAAAGCTCCTCTCCCACCAGGCCAGGTGGTGTCCAGACCAGGAGGAGGCCTGGCTGACCTAGGAGAACAGCGGTAGGAGGAGGCATGGGTGGCAGCCAAGAGACGCTGAGAAGCAGTATCTCTGAAGCTGTTTCCAGATTCATCCGGCCCGGTAGGATCTCTGTCTGATTCCATGAGAGTGTGGGAGCAAAGGCCCTAGGGAAGAGGCTGCTAAGAGGCTGGACAGAACTTCCTAGAAAATCCTAAGACTCCCAGGAATGCTGGGCAGTTTCATATCCAAGAGTCAGGGAAAGATGTGGAGAGGCTGCCCTGGCTGGGGAAGGAAGAGGGTGAAGGTGGGATTGGGGTGGGGGTAGTTGGGTAGGGGGCTCAGTCCTTAGTCATTTTTCCTCCATGCAGAATCTCACTCTGAACTTGGAGAGGCTGTGGAGTCCCCATCCTCAGGGTCCTGCCCATTGGGGGAGATGGGCTGACCTCCCTTCACACGCTTCCACTTCATCCTTCGGTTCTGGAACCACACTTTGACCTGGGGGAGGAAGCAAAGGAGCCTGGTCACTCCAGGGCCGGTGTGACCTCCTCCCCATGTCAATGCTTAGGCTAGCCAGGGTGTAACTCCAGGGACCCCAGCTTGAAACCATCACTTACCACTCCCTACTCCCTCAAAGGCCCCAGGAACTAGGACCGAAGAGAGGACATACCAATCTGCCCAGAGGTCTGTCTTGTGGCTTCGGATAAAGCCCCAGACGGGGGAACATGTTCTAAAAGCACTCTGCATTGGCCCCACCCCCTTCACATGCCCTGCCCTGCCTGTGCCAGGTCCCCCTGCCCCCTACCTCCATTCCCCAAGGGTCTGGGAGCAGAGGTCATCAGCCTTATCCTTAGGCACATTTATAGAGCACTTTTTGGTTTAGATAGCTCTGGTAAGCACATTTTCTCATCTGAGCTTGAGTATTACCTGCAGGATTATGATCCCATTTTACAGATGGAGACCCAGAGGTCCCAGGGCTAGGAAAAGTGATAGAGGCAGGATTTGAATCTAAGTCTTCTGATTCAATATCCAGCCCTCTGGCAGAGTGCTCTGTCAACTGAAATCTGCTATCAAATATTACGGTTATTATTACTATTATTCCGTATCAGAGCATGGGTGTGGGGGTGTGGGGTGGCTGAAGGGAAAGTCCAAAACAAAGGGCCAGGGAAGTTTTTCTCAAAGTGTGCCCAGGAACCAGCTGCATATCCAGATCACCTGGAGAATGTACTAGAAATACAGATTCTCAGGCCCACTCATTATGGTAAAATCTCTCTCCGGACCTCCAGAATCCACATTTTGAACAAGTGCCTTGGGGGATTCCAACATATACTCAAATTTGGGAATAGCCAGACCGTAGGTCCCAACCTAGCTGCATGTGAGAATCACCTAGGGGGCCTTTGAAAAATTCTGAGGCCTGTATCCCATCCTAGGCCAATTAAAATCATCCCTAGGGGTGGAGCCCAGACATCAGCACTATTAAAATCTCCCCAGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAAAAAAAACAAAAATTAGCCGGGCGTGGTGGCGCACGCCAGTAGCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAACAAAAAACAAAAAAACCCAAAACTCCCCAGGCTATTCTCAGGTGTGGCCACAGTTGAAAACCGCTGGACTGGCTGGAGGAAGAAAAAGGAGAAGGTCCAGGGAGGGGTGGTGGGAAAGGAGGGAAGGGAGGGAGATGAGAGAGCAAAGAAGAGGAGGGGCCCACCGGGGGCGCACCTGGCGCTCAGAGAGGTCCAGGTTTACCGCAATCTCATATCTGCGGAGCCGAGTCAGGTAGTTATGATGGGCAAACTCTGCCTCCAGCTCTCGCAGCTGCTCCTTGGTGAAGGCCGTCCTCTCCTTGCGGGCTTTGCTGCTGCCCTCCGGCTTCCCTCTGTTCTCCTGGTTGTCTGGGGAGAGAGGACCCCAAACAGGAAGACATGGGCTGAGGGAGACTCCATTCCCTTTCTTTTGCCCTTGAGCAACTAGGCAGTCTTTACCAGTCTCCCTTATTTTTACAGGATGCTGAGAAAAAAGCTACACTGTCCTTTTTATTCCTTCTGGTGTCTTACCCATATTAGAATTGGGAAGATTTTTTATTTTTGGTTTCCAATCTCAGGTACCTGCCTCCCACCCTCCCCCCACCCCAAACTTTCTTTTATTCCCAAAGCATAAGAAGCTACTCTTGGCTGTTTAATGACCTCTACTCCCCAGCCCACCCCCCAGCATGACATTACTGGTGGCCATAAGCTTGAGGGGTGAGATGCTCTAAAACAAAGCCTCAAACTATGGTCCCCAGATCAGCAGC
|
ATGGGATATTTTTTCTTATGTCATTTTTTACTACTATTAATATACATTTTTCTACCTTGAAAAATAAAATCTCCAAACTTTGAATTTAAACATTAGGGATGGTTACTTTGTGGTCAAGATTCCTTTATTAACAAAAGAGTTCATCTTTTGTTTATAAAACATTGACTATTTGATAGGTCATAGTTTAGGGAAACTGAAAGCTAAACTTTTACAATGAGAAATGAAGACCATGCATTTGCATTGGAGAAAAATTTTTTTTTGGCACCAATTATATTTTGTACCCACCTTTTGAAAAACTAAAGGGGGACAGCTCTGTCTAGATCATTTCTTCCCTTTTTCTCTTGCTTCTAGACATTGTCTGGTCAATCAGAAGGTTGCACACAAGAGCTGTGGTTGTTCGCTCTGCAAAGAAAAAGGCCTGGGAACTTTGCTTTTTATTGATTTTATTTCTCCGAGAGTTTTCTTACAAAGTGAATTGAGCTCGCACAATTAGCTTGATGTAATCTTAAGAAAATATATGAAGTATGCTTTAGAAAAAATCATGCTCTAACCAGCCATCTCATTTGGCAATCATTTTCCACAGCTCTTGCCCTTTTTGGGGTGGGGAGGTGGGGTTATTTTTACATGTGAATGATTACATCTGCGTACAAGAGATCCAAACTCACGTTGACCTCCCTCTGCAACACCAGCTGGTGTTGGGAGACAGAGCGCTGAGGCAGCCAGGGCTTCAGTCCCCCATGCTCTTTGGCCATCAGTCCTCAAATGTCATCTCCAGAAGACCTGGCTGAGGTCTGGGCAGTCCACACACAAAAACCTAGCATTTCCTCCCACAATAACAGCATTTGTAGAACACACAGCAAGAGCTTAAATCCATCCCATGGAGGAAGAGGGATTTTCTTGTCCCCTTTTGCAGTCACAGGACACTGTCACTGGAGAACCTTCCACTCCAGGGTTCCACATCTCCAGGCCCTCACCCAGCAGCCCTCCTTATTATCTCCCCTCCCCTCCAGAATGCAGGGGACACTTTCCAGCCTCTACGTTGTTTTCAGCTCCTAGTTGTTCAGCCCAACAACTCAGCATCTGGACAGGTTTTCAATCCAGAAATCGTGGATTTAAAAGGAGTAGCTGCTCCTTTTCTCTGGAGCACAGCCCAACAGCCCCTGCTGTATCCCTAAATTGATTTTGATTTTGAAGCAGCAGGTGCTGTCATGGGTTCATTCTTGTCCACCCAGTCAAGCCTGTGTGGACGGGCCTATATGGGGACACCGAAACCTACATCGGGCTATTTTTCTGTCTTCTCTAGTCAGTTCTCAGAAGTGTCTCCACTTAGCCAACAAATTTGGAGACAGGGATGTGTTTCTGGCTTGCAGCAGCTGAGTTGCTGTCCTTGACTCTCCTCATTCTGATTTTTCTTGGGGTTTCGGGACAACTAAGGGGCCCCAAAGCCTCAGATGTGCAGCCTACAGAGGAAGGTGGGCAAGGGCGTGTGTCTCTGTCATTTCCTTCCTTTTGAAGCATTTACTTTCCGAGTCGCCAGCTGGTTCCAAAGCTCCTCTCCCACCAGGCCAGGTGGTGTCCAGACCAGGAGGAGGCCTGGCTGACCTAGGAGAACAGCGGTAGGAGGAGGCATGGGTGGCAGCCAAGAGACGCTGAGAAGCAGTATCTCTGAAGCTGTTTCCAGATTCATCCGGCCCGGTAGGATCTCTGTCTGATTCCATGAGAGTGTGGGAGCAAAGGCCCTAGGGAAGAGGCTGCTAAGAGGCTGGACAGAACTTCCTAGAAAATCCTAAGACTCCCAGGAATGCTGGGCAGTTTCATATCCAAGAGTCAGGGAAAGATGTGGAGAGGCTGCCCTGGCTGGGGAAGGAAGAGGGTGAAGGTGGGATTGGGGTGGGGGTAGTTGGGTAGGGGGCTCAGTCCTTAGTCATTTTTCCTCCATGCAGAATCTCACTCTGAACTTGGAGAGGCTGTGGAGTCCCCATCCTCAGGGTCCTGCCCATTGGGGGAGATGGGCTGACCTCCCTTCACACGCTTCCACTTCATCCTTCAGTTCTGGAACCACACTTTGACCTGGGGGAGGAAGCAAAGGAGCCTGGTCACTCCAGGGCCGGTGTGACCTCCTCCCCATGTCAATGCTTAGGCTAGCCAGGGTGTAACTCCAGGGACCCCAGCTTGAAACCATCACTTACCACTCCCTACTCCCTCAAAGGCCCCAGGAACTAGGACCGAAGAGAGGACATACCAATCTGCCCAGAGGTCTGTCTTGTGGCTTCGGATAAAGCCCCAGACGGGGGAACATGTTCTAAAAGCACTCTGCATTGGCCCCACCCCCTTCACATGCCCTGCCCTGCCTGTGCCAGGTCCCCCTGCCCCCTACCTCCATTCCCCAAGGGTCTGGGAGCAGAGGTCATCAGCCTTATCCTTAGGCACATTTATAGAGCACTTTTTGGTTTAGATAGCTCTGGTAAGCACATTTTCTCATCTGAGCTTGAGTATTACCTGCAGGATTATGATCCCATTTTACAGATGGAGACCCAGAGGTCCCAGGGCTAGGAAAAGTGATAGAGGCAGGATTTGAATCTAAGTCTTCTGATTCAATATCCAGCCCTCTGGCAGAGTGCTCTGTCAACTGAAATCTGCTATCAAATATTACGGTTATTATTACTATTATTCCGTATCAGAGCATGGGTGTGGGGGTGTGGGGTGGCTGAAGGGAAAGTCCAAAACAAAGGGCCAGGGAAGTTTTTCTCAAAGTGTGCCCAGGAACCAGCTGCATATCCAGATCACCTGGAGAATGTACTAGAAATACAGATTCTCAGGCCCACTCATTATGGTAAAATCTCTCTCCGGACCTCCAGAATCCACATTTTGAACAAGTGCCTTGGGGGATTCCAACATATACTCAAATTTGGGAATAGCCAGACCGTAGGTCCCAACCTAGCTGCATGTGAGAATCACCTAGGGGGCCTTTGAAAAATTCTGAGGCCTGTATCCCATCCTAGGCCAATTAAAATCATCCCTAGGGGTGGAGCCCAGACATCAGCACTATTAAAATCTCCCCAGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAAAAAAAACAAAAATTAGCCGGGCGTGGTGGCGCACGCCAGTAGCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAACAAAAAACAAAAAAACCCAAAACTCCCCAGGCTATTCTCAGGTGTGGCCACAGTTGAAAACCGCTGGACTGGCTGGAGGAAGAAAAAGGAGAAGGTCCAGGGAGGGGTGGTGGGAAAGGAGGGAAGGGAGGGAGATGAGAGAGCAAAGAAGAGGAGGGGCCCACCGGGGGCGCACCTGGCGCTCAGAGAGGTCCAGGTTTACCGCAATCTCATATCTGCGGAGCCGAGTCAGGTAGTTATGATGGGCAAACTCTGCCTCCAGCTCTCGCAGCTGCTCCTTGGTGAAGGCCGTCCTCTCCTTGCGGGCTTTGCTGCTGCCCTCCGGCTTCCCTCTGTTCTCCTGGTTGTCTGGGGAGAGAGGACCCCAAACAGGAAGACATGGGCTGAGGGAGACTCCATTCCCTTTCTTTTGCCCTTGAGCAACTAGGCAGTCTTTACCAGTCTCCCTTATTTTTACAGGATGCTGAGAAAAAAGCTACACTGTCCTTTTTATTCCTTCTGGTGTCTTACCCATATTAGAATTGGGAAGATTTTTTATTTTTGGTTTCCAATCTCAGGTACCTGCCTCCCACCCTCCCCCCACCCCAAACTTTCTTTTATTCCCAAAGCATAAGAAGCTACTCTTGGCTGTTTAATGACCTCTACTCCCCAGCCCACCCCCCAGCATGACATTACTGGTGGCCATAAGCTTGAGGGGTGAGATGCTCTAAAACAAAGCCTCAAACTATGGTCCCCAGATCAGCAGC
|
Task1_train_24648
|
The variant affects gene SOST (sclerostin), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Craniodiaphyseal dysplasia, autosomal dominant
|
TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCACTACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT
|
TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCAATACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT
|
Task1_train_24649
|
This variant affects the gene SOST (sclerostin) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; SOST-related disorder
|
TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCACTACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT
|
TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAATGAAAAATAGTCTTAAGACCAAACCAGAGAGGGGACAGAGAAGGCCACCCCCCACCCCCACTCTGAAGAGCAAGCACAGCAGGGGAGATGTGGCCACTGCCATCGTCTGGGGCTGCTTTCTGGTCTGTGGGCTGGTTTGCATCCTCACCTCTGCAGGGCTGGAATGTGTGTGTGGTCAGGGGGGCATTTGCCCAGGGAAGGGGGCATTTTGCGGCTTTTCGAGAATAGCGCCCCTAGGCCAGGCACTTCCTCTGCAGATCATGACTTTGTTTTGAGCATGTGGCTTCCTCAGGGGCTGTGGCCTCTCGTGGGAGTCCAGCAAGGTGGACATTTTGTGTTTGGGTTCCTTACAGCCCTTCAGGCAGTCGCTGGAGCCCAGCTGACCTTGCCTAGAAGGGGAGCTGTGGGGGGAGGCGCCCTTGTCCTCCATTTTGAAGACGGAGGGTCCTGGCTGGCCTCCCATGCAGTTGCCCTTTTTAGCACCCCATAGTCCCAACAGGTTGTGAGGCGGGGAGGGCTGGGGTCCAGGAGCCTGGGCAGTGGACTTCTCTGCCACCTGGATAATGGCCAGAGGACAGGGAAGCTCTTAGTCTGAAGTGTCATTTCAGACGCCCCCATGGCCTCAGGATTCCTGCCAATTATAGAGCCAGATGCACACTGTCACCTGGGCTTCTCTGTGCAGGCCTGACCAGGAACCCAGGGTTCCTCTTCCTTCTCCCTCCCCTGGAATGAGGCAAGGTTGGGACTGGGGTGGCTGCTGAGGACAGATGTCCCTACTCCTGCACAGAGGATGCTGCTCTCCCCTCCAGGGCCTGGACTCAGCTGCACCCATGTCAGGGGCTAAAACTGTGCCGAAAACTCCCATTCCTTCAAGTGCCAGCTCCCTGGGCAGGCCGTGGGCAATGCACACTGCAGGGGTGCCTCTCTGGCCTTCCTCCCCACTGCTTTGTGGAGATCTGTCCCCCACACCCCCCCACACACCAGGGCTATCTTGCAGTTGGATCAAACCAGGTTCACACCTCAGCTCTTCTCACTACCAAGTTACTGAGTGCCTGGAACCTGTTTCTTCCCCTTCGAGCTGGGGGTTCACCTCCTGGGGATTCCATGATGTGGGTCTGTGTGGTGGGGACAGCCACCACCAGCATAGAGTGTCCGGTGCCCCACAGGTGCTGTTCTGTGGATGGGAGGCTCCCTTACCTTGTTCCCTTCCCAGTGGTACCAGCAGCTGGACGTGGCTCCTATATTCCCAGGAGGAGATTCTTTGAAACCTTTTCTTTTCTGAGCCCCTGAGCCTGTTCTGATGCCCTGATGCCATACCCTCACCACCCCAGCGTCCTCCCTGCCCTGGGCTCTCACCAGCGTCTGTTGCCTCATGCCTCTGCACCTGAATTTGAAGGCTGCACCAGCGAGCCATTCTTCCCCCACCTCCAGGCAAGACTGTTCCTCGACCAGTGCTGGCAGAGGCCAGCAATCTTCACTGGGTCTACCCCAGTCTTCCAAGCCTCCCAAAGAGAAGTTTCTAAAACCTCCCCAGGATCTTTTACTAAGAATTCTCTCCTCCACCCCATACCTTTGGTCTCAAAGGGGTGGTGGGGAGGCCGCCCTCCGTTCTCCGCCCGGTTCATGGTCTTGTTGTTCTCCAGCTCCGGTGGAGGCTCGGGGTACTCTCCGAGCTCGGGGATGATTTCCGTGGCATCATTCTTGAACGCCTGCCACCCCTGGCCCTCCATTACACGGAAGGCTGTGTGTACCAGCAGGCAGACGAGACACAGGGCCAGTGGGAGCTGCATGGTACCAGCCAGAGGAGGGCACGCCACCTTCCAGTAGCACAGGCTCTGGTCTCCAGCCGAGACACGGTCGCCTTTTTAAAGCCCCTCTCTGCTTCATGCCAGCCAATGAGGACAGGCTGGGGCAGGGCTGGTCCCATGTTTCCCTCAGCCCCGGAGGGAGGGAAAGGGGTGTGCTCAGAGCAAACCCTCCCCAAAGACTTCTCCTCTAGCTCAGCAAACTTCCAAATTGCTGCTGGCACTCCCAGGTGACCCAGAGAGAGGGGGCGTGTGAGGCAAGGCCCAAGCCTGCTCTCCGGCACCTCCCACGTGCTGGCGGCTGTGGTTTTCAGATATCAAAATGAGCTCCGGCTTTTAATTGTCTGTCTCCCTGGGCCCTCGGGCATTCTCAAAACAAACTGTGGACCCGCTCAACAAAGAAAATGTGCAGTTCTGAGTGCTTCGCGGGGCTGAGCCCGGCCTATTCCATTTCTCAGGCCAAGTTCATTTGTCACCCCACCAACAAATGGCCCAAGGCGTTTCTGTTTGACCCCCATAGACCCAGCCAGAGGCAAAAAGATGCTTTTAAAGAAATCCCATTGGTCCCAACTCCACAAGTCTCAGCATTCATTGTCCTAACCAAGAAAGCCTCTCTTGGTATTCTCTGGAAGGCAAGAGAGAGAACTAGAGGGTCAGAGCAAGGGTGCCCGCTTGGGAGAGAGGGCAGGATTCTGGTTACAAATCGAGGATGCGCTGGTCACTCAGGCTCCTGTGGTGGACAGCACAGAGGAAATCCCAGCTCATGCTCCTCAGGGATCCTGTGCACTGTGACAGGCACTTCTGAGCCAGGGCACTCACTGTGGCTCGCAGGGTGATGTGCTGAAGACAGTCATTTCCCCAACCAGTCTGTGTGTGTGAGAAGACAACACCAAATTCCTTTCCTTAGCAAAAGCCACAGCCAGCGTTTTTAGTGCTGACATTTTATTTTCTTGTCTTCCAGCTGGTTACATTTTTCAAAAACAGTTTTGAGTCCTGTATGGAAAGCTTCATTGGTGCACACCACAGGATGTGTTCCATGAAGCCATCCCAGGACCAAGTGGTCACAAAGAAGCTAAGAGAAAATGCTGCCTTGGCCCTGCATATAATGAGCCACACAGGGCCGGGGCGGGGGGCGGGGGGGCAGGTAGAGGCGTGGGGGAGAAGGATTCACACCTGAGGTGCAAGAAGAGAAAGGAAGGCCAGAGGAATCTTTCATTGAAGACAGATTGTTTGAGGACAAGCAGCTCCTGTGAAGAGGCTGCCCAGATCCTCTGGTATTTTAACTGGGCAATGAATCAGCATGCCCCACCTGCAGAGCCTCTGCAAGTCCTTTGCCACCTGCCTCAACTTGCAAGTCGCTGTGTCCATCTGCAGCCGACTGTCCTCCTTTCCATCATCCATCATCCGACACATGAATGCAGCTGCTCTGACAGTTTTACAAGCCAGACAGAAGCCCCCTCAGGAAGGGCCCTCTCTGATACCTGCTTCCTAAGTCAGTTTCCTTCAGGGCAGATGAAAACAGCTGTGGCCATTGTTGGGGGTGATCTATCTCTCCCAGCAGAGCCGGTAGTGTTGTGAGAAGCTGGCCCTCCGCGCCACCTCCCCTTGTCTATGACCCTCCAGCCTCCTTTTCCCTTGCTCTGGAATGTGGACTGTTAACCCTCTCATGACCAGACGACTGCCTTCTTGCAATGGACTTGGGAGAGAGCAGTTCTGATGCCTGGGTTCCTTGAGCAGGTAGGATGGATGCTTATAGCCCCACCTGCTGTTGGGAGCGGCTGGACCGTCTGCATTAAACAGAGGCAGTGGGATTCATCCCTGGAACGCGTCTGCCACCTGCTGGAGACAAAAGGAGGGGTGACTGCAGGATGGCAAGTCTCAGGACTGGACGTGATTTCCTTTCCTTTCCTTTCCTTATTTGGAAGTGAAGTAATATTAAAAGGAAAAAGAAGAATCCAGTGGACTTGAACCT
|
Task1_train_24650
|
The gene NAGS (N-acetylglutamate synthase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Hyperammonemia, type III
|
AGAATTCCTCAAGCTGGTACCCAGTGACTGGAGTTTGGCAAACCCTGGTAACCTCATGGTCATTCATTAGGATCTTTTTTGAGCTCAGGCAACAGGACAGACAAGGCCAGCACCACCCGCCCCCGCCCTCCCACTGCCCCCCTTCTTCTACTCTTTCCAGCGCCCTCCTTCCAGCCCCCTGCCCAGCCCTGTGCTCAAAGCCACCTACAGTCCCTTCTTCTCTGGTCAGAATGCCAATCATCCAAGGCCCTGCAGACTCCCAAAGCCGCCCCTGGAACCTACCTTGGCAGCAGATTAAAGACAACCCGCCACATTTAGTCTCGGCCCCATGACCGATAGTGGGTTCAGTTCCTCCAGGGGCGGGGGAGCCTAGTGGCCCCGCCCCCTGACTCATGGCCTGACCCTCCTCAAACGCACCCAGAGGAGACTCCTGGTCCCCTGTCCGGACCCCGCCCCGACCAGGTCCAGCCCCGCCCAACGGCAAGTTAAGAGCCCCCCAGTGCCAGACGCTCCAGACAGACTGCCACTCTTGGGGGGCAAGAGTTGGTTGTCGTCATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGAGGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCGAGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCCGAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGGGTGCCGAGTCCCAGGCCCCCGGTGCCCCACGAGTCCCCAGAGCCTCCTTCGGGCCGCTCGCTGGTGCAGCGGGACATCCAGGCCTTCCTGAACCAGTGCGGGGCCAGCCCTGGGGAGGCGCGCCACTGGCTCACGCAGTTCCAGACCTGCCATCACTCCGCGGACAAGCCCTTCGCCGTCATCGAGGTGAGCGGAGCCCGGCGTGGGCCGTGACGCAGCGAGGGGATGGGGTTGTGCGGCCACCTGTCCTCAGGCATGGCAGGATACGCTGCGGGCTCTGCGCAGCGGAAGCGGGAAGGAGCCCGGCAGGGCCCAGACCAGCGCCGCCGGGAATGGGAGAGGCCGTAAGCTCCTCCGGAAGCCTCCCGCCCAGCCCGAGTGAGGATCCTGGGGGACCCCACCCGCCAGGTGTGATGCTCTGAAGAAGGCCCCCAACATGGGCGCAGTTAGGGGTTCAGAAGGACCTGGACAGGAGCCGCTTGCACTGCCCCTCCCCCAAAGATGTCCCGGAGTCCAAGGTCGGAGGGAGGAGGGCGGGAGGTACCCCAGCGTGAGACAAGGGAGTGGCAAGACCCAACGGGGCAAAGGGCGGAGCAGGTGGGCACTGGTGGCCAGAACTGGGTCCTGACAGCTTCTGGAAGGGTAGGGTCACCGAGACGGCCCTGCAGGCCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCT
|
AGAATTCCTCAAGCTGGTACCCAGTGACTGGAGTTTGGCAAACCCTGGTAACCTCATGGTCATTCATTAGGATCTTTTTTGAGCTCAGGCAACAGGACAGACAAGGCCAGCACCACCCGCCCCCGCCCTCCCACTGCCCCCCTTCTTCTACTCTTTCCAGCGCCCTCCTTCCAGCCCCCTGCCCAGCCCTGTGCTCAAAGCCACCTACAGTCCCTTCTTCTCTGGTCAGAATGCCAATCATCCAAGGCCCTGCAGACTCCCAAAGCCGCCCCTGGAACCTACCTTGGCAGCAGATTAAAGACAACCCGCCACATTTAGTCTCGGCCCCATGACCGATAGTGGGTTCAGTTCCTCCAGGGGCGGGGGAGCCTAGTGGCCCCGCCCCCTGACTCATGGCCTGACCCTCCTCAAACGCACCCAGAGGAGACTCCTGGTCCCCTGTCCGGACCCCGCCCCGACCAGGTCCAGCCCCGCCCAACGGCAAGTTAAGAGCCCCCCAGTGCCAGACGCTCCAGACAGACTGCCACTCTTGGGGGGCAAGAGTTGGTTGTCGTCATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGAGGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCGAGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCCGAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGGGTGCCGAGTCCCAGGCCCCCGGTGCCCCACGAGTCCCCAGAGCCTCCTTCGGGCCGCTCGCTGGTGCAGCGGGACATCCAGGCCTTCCTGAACCAGTGCGGGGCCAGCCCTGGGGAGGCGCGCCACTGGCTCACGCAGTTCCAGACCTGCCATCACTCCGCGGACAAGCCCTTCGCCGTCATCGAGGTGAGCGGAGCCCGGCGTGGGCCGTGACGCAGCGAGGGGATGGGGTTGTGCGGCCACCTGTCCTCAGGCATGGCAGGATACGCTGCGGGCTCTGCGCAGCGGAAGCGGGAAGGAGCCCGGCAGGGCCCAGACCAGCGCCGCCGGGAATGGGAGAGGCCGTAAGCTCCTCCGGAAGCCTCCCGCCCAGCCCGAGTGAGGATCCTGGGGGACCCCACCCGCCAGGTGTGATGCTCTGAAGAAGGCCCCCAACATGGGCGCAGTTAGGGGTTCAGAAGGACCTGGACAGGAGCCGCTTGCACTGCCCCTCCCCCAAAGATGTCCCGGAGTCCAAGGTCGGAGGGAGGAGGGCGGGAGGTACCCCAGCGTGAGACAAGGGAGTGGCAAGACCCAACGGGGCAAAGGGCGGAGCAGGTGGGCACTGGTGGCCAGAACTGGGTCCTGACAGCTTCTGGAAGGGTAGGGTCACCGAGACGGCCCTGCAGGCCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCACGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCT
|
Task1_train_24651
|
Given this variant in gene NAGS (N-acetylglutamate synthase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Hyperammonemia, type III
|
CCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGC
|
CCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGACCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGC
|
Task1_train_24652
|
A variant found in Chromosome 17 affects NAGS (N-acetylglutamate synthase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Hyperammonemia, type III
|
CTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCTGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGCTCAAACTTGGACGTTTTCCCCTAGGCCCTACTAGTGGTTGTGTCCAGTCTCTACAGGACTCGATGGGCAGAAATCCAAAGCCCAGGGGTTTCATTTGACATTTTTTGAAGCTCCATAATGTAGCAGGCACCATACCGGCTGCTGCTGGGGT
|
CTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGGTGGAGACAGACCTGCTGCAGTGGTGCCTGGAGTCGGGCAGCATCCCCATCCTGTGCCCCATCGGGGAGACGGCCGCGCGCCGCTCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCAAAATCATCTTCCTCAATAACACAGGCGGCCTGCGCGACAGCAGTCATAAGGTGCGGCCCTTTCTTTCACCTTCCCCCACGCCGGCGATCCGGGCCTTCTCTTGCGCCCCTCGCACTTCTCCCCGACGGGCCGCAGACTCACTAGCAAGCCGGGTGGGTAGAAAAGCCTAAGGGAGTATAGGGGAGGAGTTCAGCCCTGGGTGCCCAGATCTGCGCCCTCCCTGGCTAAGGACTCCGGGCGGAAGTAAGGATAAAGGGGTCAGAGAAAAGAGAGGTCCGTGGGGGTAGGGGGGCAGTCCGTGCCGGCTGTGGGCCAGGCTCACCCGCTGACTCCGGACACAGGTCCTGAGTAACGTGAACCTGCCCGCCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCGGCTCATCGTGGACGTGCTCAGCCGCCTGCCCCACCACTCCTCGGCCGTCATCACCGCCGCTAGCACGCTGCTCACTGAGCTCTTTAGCAACAAGGGTGAGGGCGGTGGGCGGGCCGGGGACTGGGTCCCGGGAGTGAGTACTGGCCGGGGCTGGGTGTCTGCGGTCAGGAGGAGCGGCTTCTCCTCCTGTCCAGGAGCCGTAGGGGGAGGCGGGGGGTGTCACAGCAATGGCTCCTGCTGCTGCCGAAACCCGGGGGAGGTGAGAGAGGAGGAGACCCAGTGTACTGGAAGGGAACTCCGAAGGAATTAAAGGAATGGGCGGGACTAGGGGGGAGAAGGAGGGGCCCCCCGGTGGGCGGGGCCAGGGGCGGGACCATAAGGGAGGTGTTCGACCGGGAGAGATGGGCGGGGCTTAGGTGGGTGGGCCGGGTCAGCGGCGGGAGACAGACTTCAAGGAGCGAGGCAAGACTAACGGAAGTGGGTGGGGCTCCAGGCGACAGGAGGAACTTGGGGCACAATCTCTGCCTGGGGAAAGCATCTCCTTGAATGAAAATCACAGACAAATCTATGCAGACCACTGAAATCATTTCACTGTGGAGGTCTCCCAAAGACGGAAATTGTCCCACCAGCGCCTGTCCTACCTGCAGTCCCCACCAGGCTGCGCAAACGGCCCTCCAGCCAGACTAGCCCCTCCCCATCCTCCTCCAGGGTCCGGGACCCTGTTCAAGAACGCCGAGCGAATGCTACGGGTGCGCAGCCTGGACAAGCTGGACCAGGGCCGTCTAGTGGACCTGGTCAACGCCAGCTTCGGCAAGAAGCTCAGGGACGACTACCTGGCCTCGCTGCGCCCGCGGCTGCACTCCATCTACGTCTCCGAGGGGTAAGCCTGCGGACCCCAGAGGGCGGGGTCTGGGGGGCAGTCGGGCAGCTTCGGACCAAGGAGAGGTCCCAGCCTGCCGCTCTCCCGCTGCGCCAGGTACAACGCCGCCGCCATTCTGACCATGGAGCCCGTCCTGGGGGGCACCCCGTACCTGGACAAATTTGTGGTGAGCTCCAGCCGCCAGGGCCAAGGCTCCGGCCAGATGCTGTGGGAGTGCCTGCGGCGGGACCTTCAGACACTTTTCTGGCGCTCCCGGGTCACCAACCCCATCAATCCCCGGTAGGTCCTGCCACTCCCAGCTCTGGGCTGGGCCCTGACTTCCCTCCCCTCTCCCACCCTTGCCAACCATGCCAAGAAGGCTGGGCTTCCTCTTCTTCCACTGGTCTCCCTTTCACTACCTCCCAGGGGCAGAACACACAGAAAGCCTGAGATTTCCCGAGTTAAAGCATGCTTAACACTCCTTTTCTGGCAGCAAGTGACACCTCCTAAGCCCCACGCAGCCCACCTCTCACAGGGGCCTGAGGAATCCTAACCCTTCAGGGTCTATTGGAGGCCTGCGGCGCCTCCAGTGGAACATCCCTCCTCTCTCCTTCAGTAACTACCCCCTCACCCCTACACCCTGCTCTGTGAGCACTAGGAAGTGAGCAAGAACCCTCCTCTTTGCTGCACAGCCAAGGCAGTGTGGAGAGCAAAGCACCCGCTCCCTTCCTGTGTGCGCCTGGCAAGGTACCTAACTTCTCTGAGCCTTAGCTGCTTCTCTGTGAGCTGAGCATCACAATGCCAGGCTCAGGCCTCTGCTGTGAGGATAAAATGAGATAACACACAGCAGGACCAAGCTGGGTGCCCAGCATGCAGTAGGTCCTCAATCAATGTTTTTTAAAGACAGAACCAGTGAGTAATGAACACTGGCCTTGCCCTAAAAACTGTTTCCTACATCACCTCCCCACACCCAGGTACTTCAAACACAGTGATGGCAGCTTCTCCAACAAGCAGTGGATCTTCTTCTGGTTTGGCCTGGCTGATATCCGGGACTCCTATGAGTTGGTCAACCACGCCAAGGGACTGCCAGACTCCTTTCACAAGCCAGCTTCTGACCCAGGCAGCTGACCCTCACCATGGACACTACAGGCCCTGGAATGGCCAGGGTGGACCAAAAGCCATGCCAGCTGGGCATGACCCCAGGCAGCCAGCCACAGGCTGAAGGGGGCTTGTTGGCTGAGTGATCTGCAGAGGAGAAAGCAGCCCCAGCTCTGCCCAGAGGAGGCGCTGAAGTGGGACAAGCACAGGAAAGAAGGGGACCAGTCTAGGACCCCAACTCGACTCACTCTAAAGCTACAACCAAATGGCCTTCGATTTTCAACCTGGGGATTAGGGGAGGGGAGGGTGCCTTCCAGGGCTCTACTCAGGACTAACCCTAAGGGTGAGCTAGTTTCTGTGCCTCTGTGCTATGTTTTGAGGCTCCCTTACCCAAAATAATACCCCTGCCTGCGTGATATTCTACCATTCATTTTAATTCCTTTGGGTCTTGCAGTTTTTCAGGAGGCCTTGATTAAAATGCAAATACTTGTCTGAGAGTCAGCTTACACTTGAAAGAAAATTAGAAGTGACCCCGTGGGAGCAAGATTTTTTTTTTTTTTTTAAAGACAGGATCTTGCTCTGTTACCAAGGCTAGAGTACAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCATGTCAGCCTCCTAAATAAGCTGGTACCACAGGCATGCACCGCCACACCTGGATCTTTTTTTTTTGGTAGAGACGAGGTCTCACTATGTTGCCAAGGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTCCCTGCTTGGCCTCCCAAAATGCTAGGATTACAGGCTGGGAGCAAGATCTTGAGGGCTGGGGAATCAGGGGACTCCTGGAGGGAGTAGAAGACTTCTATGATGAATGCTGCCACCATCTCCCTCCCAGAGATTAGGAAGCATCCTCCCTTCCACAGACCAGGCCACAGCAGCCCCAGCTCCCCTTGCCTGTGAGTGCCTCCACCCACAGCTCCCTTTCTAGGCTGGGCTCACAGCCAGACCCAGGCATCAGTGGCGGACCGTTTACCTGCAAGAGCCCAGAGAAGTTAAAAGATGGCTTTGGCTTAAAAGCTCAAACTTGGACGTTTTCCCCTAGGCCCTACTAGTGGTTGTGTCCAGTCTCTACAGGACTCGATGGGCAGAAATCCAAAGCCCAGGGGTTTCATTTGACATTTTTTGAAGCTCCATAATGTAGCAGGCACCATACCGGCTGCTGCTGGGGT
|
Task1_train_24653
|
This sequence change occurs on Chromosome 17, altering G6PC3, LOC130060959 (glucose-6-phosphatase catalytic subunit 3| ATAC-STARR-seq lymphoblastoid active region 12250). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
AAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTGTTTTTAGTAGAGACACGGTTTGGTTTCTCCACGTTGGTCAGACTAGTCTCCAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTTCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCCAGCACCTTTTTTATTTTTTATTTTTTTTTATTTTTTGAGATAGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGTCCCATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGAGACTACAGGCGCGTGCCCCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTAACTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTTGTGATCCGACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCGCCGCGCCCGGCAAAAAAAAAAAAAAAAAAAAAACTTTTCAAGAACAAAGTTGATTGAGGTAGGAAGAAACTAAGGAGACACTGTTCAACAGTATTCTAGGCAGGACCTCGCCTAGAATAGCTGAGATTTCTATTTTCTATGTGAGTTCCCCCAGATGACTGTTTCAAACTCTGTCGCGGGTGTGTGCCAATCCTCTTCCCATACCAACACTGTTACTATCTCTTGGTTTCATCTGCCTAAGCAGGGTTTTGGATGGCAGGAGGATGGGGGTGGGGGAAGCAAGGGAAGAACTGGAAGGAAGTGTGACTTTGCGCTATATGTGAGAATTCGCCTTTTTAGGGAAGACCCCTCAAAATCAAGAGACTTATCTGTCAGCCTCCAGATTAATAGCAGGCGAATTAGAAAGGGGGAGTCTTGAGGCTGGGGAGGAAGGAGTGAACTGATTAGGGGTGTATGCAAATTTAGGATCCCGCTTCAGCTCCCAGGAGGAGGGGCTGTCTGCAGCCTTTTCTCCAAAGGATCTCAGATTTATTTATTTTTTTGCTGTTTGTTTTTTTTTTTTTTTTTTTGGTGGGTATTGGTGCTGGAGAAGAGAGGTCCGGTGGGGAAAGAATCCCGGCCCTGGAGATTATATATCCGCCTTCGCATCAGCGGAGCAGGGACGCTGGGAGCGCGCGCGGCCCGCCGGCTAGTCAGTCCCCTGACCCGGAACCGCACTGGTGCCGCCGCTAGCCGGCTGCCCACGTGCCTGCAACAGTGGCCACGTGGGGCCCTGAGGAAACGCCTTTACAAAGGTTTGTCCCCTGCGCTGCCCAGTAGGGAGGAAAACCGGAGGAGAGCGCAGGAGGAAACAGTACCGGCTGGAGGCCGGTCTTGCAGGAGCGGGGGACTGCTGGGGGCGGGGCTTGGTGGTGACCGCTGGCGGGGCGGGGCCTGGGGCTCAGAGGGGTGGGCTTTGGAGATCAGAGGGTCGACGCTGCTTCGTTGCCTGGACTCTGGTTTCCGCCCTGGAGCAAGCCGGGGCCTGGTCGGCAGCTGGGCCGCCATGGAGTCCACGCTGGGCGCGGGCATCGTGATAGCCGAGGCGCTACAGAACCAGCTAGCCTGGCTGGAGAACGTGTGGCTCTGGATCACCTTTCTGGGCGATCCCAAGATCCTCTTTCTGTTCTACTTCCCCGCGGCCTACTACGCCTCCCGCCGTGTGGGCATCGCGGTGCTCTGGATCAGCCTCATCACCGAGTGGCTCAACCTCATCTTCAAGTGGTGAGACAGAGAAGCCCTCCGGCATCCTGGTCCCCACCCCCGAGGGCCCTGAGTCATGTGTAAGCCCTGGTCTCTTTCAGCAACTGTCTCAAGGGCCTTCCCACCCCTACTCTGTAGTCCCTGATTTTTTTTCCCCTTGAGCATCTTTGTGCAGCTTGGACTCAAACCTCAGAGTCCAACCATCCTACTCATTAGACCAGTGTTCTTCAAACTGGTCTGATGGAAAAATCACCTAAGGGGCGTGTCTAAAATGTAAATATCCCATCCTCATCTCACACTTACTAATTTAGAAACTCCAAGGGGTTGGGAATTTATTTTTTATTTTTTATTTTTGGTTTATGGGAATTCATATTTTAACAAATATGGTGATTTAAGTAGTGGAGAGTCCTACCTCTCAACTCACTTTTTCATTCATGTATTCATTCATTTGCTATAATTTTTCAGAAGCATGCTTTGTGCTGGGCATCACGGTAGCTGCTAAGGACAGAGACACCTTGCAGATTAAGGTGTGGTCCCTGGACCATGCCCAACGGCATAGGCAGCACTTGAAAACTGGCTAAAAACGCAGACTCTCAGGCCCCGGGCCAGAGCTACTGAATCAAAATCTGCATTTTAACAAGGTTCCCAGGTGATTCCCTGTGCGTATGCAGTAAAGTTTGGGCTAAAGCACTGCTTTCCAGGGAACACTTTCTCTTCTTTCTCTTTCATTCACCAGTAGACTCTTCACACTGAGACTTAGAAGCCAGGAATCCCAGGGACATGGGTGGAGGCCCTGTGGCCCCTGGGGCTGGGCATGCAGCCACACCTCCCTTCACCTCAGCCTCTGTTGCCAGATCCTCAGCCTGGGGGAAGGAAGGGAGGCTCATAGGAGGTATTTCAATGAGCTGGAATGACTTGCTGAAAAACAACATAGAGTTCCCCTCCCTTCCACTCTTTTCCACGAGGGCCTCATCCTTATGTAAAGGGAACCACAGTGATCTGTTCACTTCTTTCTTGCCTAATTGCCCTTTGCTTTGTGCTCTCCTCTCTCAAAGTCTGTATAAGCCTCCCCCTCTATTCCTTGTCCCCCAAAGATCACAATCTCCTTCAGACACTATTAATGTCCCCCAAGTGGCAAAGTCCCTATTCATTTTCATTTTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGTCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCAACCTGGCATTCTTTTTTTTTTTTTTTTTATTCTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCA
|
AAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTGTTTTTAGTAGAGACACGGTTTGGTTTCTCCACGTTGGTCAGACTAGTCTCCAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTTCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCCAGCACCTTTTTTATTTTTTATTTTTTTTTATTTTTTGAGATAGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGTCCCATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGAGACTACAGGCGCGTGCCCCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTAACTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTTGTGATCCGACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCGCCGCGCCCGGCAAAAAAAAAAAAAAAAAAAAAACTTTTCAAGAACAAAGTTGATTGAGGTAGGAAGAAACTAAGGAGACACTGTTCAACAGTATTCTAGGCAGGACCTCGCCTAGAATAGCTGAGATTTCTATTTTCTATGTGAGTTCCCCCAGATGACTGTTTCAAACTCTGTCGCGGGTGTGTGCCAATCCTCTTCCCATACCAACACTGTTACTATCTCTTGGTTTCATCTGCCTAAGCAGGGTTTTGGATGGCAGGAGGATGGGGGTGGGGGAAGCAAGGGAAGAACTGGAAGGAAGTGTGACTTTGCGCTATATGTGAGAATTCGCCTTTTTAGGGAAGACCCCTCAAAATCAAGAGACTTATCTGTCAGCCTCCAGATTAATAGCAGGCGAATTAGAAAGGGGGAGTCTTGAGGCTGGGGAGGAAGGAGTGAACTGATTAGGGGTGTATGCAAATTTAGGATCCCGCTTCAGCTCCCAGGAGGAGGGGCTGTCTGCAGCCTTTTCTCCAAAGGATCTCAGATTTATTTATTTTTTTGCTGTTTGTTTTTTTTTTTTTTTTTTTGGTGGGTATTGGTGCTGGAGAAGAGAGGTCCGGTGGGGAAAGAATCCCGGCCCTGGAGATTATATATCCGCCTTCGCATCAGCGGAGCAGGGACGCTGGGAGCGCGCGCGGCCCGCCGGCTAGTCAGTCCCCTGACCCGGAACCGCACTGGTGCCGCCGCTAGCCGGCTGCCCACGTGCCTGCAACAGTGGCCACGTGGGGCCCTGAGGAAACGCCTTTACAAAGGTTTGTCCCCTGCGCTGCCCAGTAGGGAGGAAAACCGGAGGAGAGCGCAGGAGGAAACAGTACCGGCTGGAGGCCGGTCTTGCAGGAGCGGGGGACTGCTGGGGGCGGGGCTTGGTGGTGACCGCTGGCGGGGCGGGGCCTGGGGCTCAGAGGGGTGGGCTTTGGAGATCAGAGGGTCGACGCTGCTTCGTTGCCTGGACTCTGGTTTCCGCCCTGGAGCAAGCCGGGGCCTGGTCGGCAGCTGGGCCGCCATGGAGTCCACGCTGGGCGCGGGCATCGTGATAGCCGAGGCGCTACAGAACCAGCTAGCCTGGCTGGAGAACGTGTGGCTCTGGATCACCTTTCTGGGCGATCCCAAGATCCTCTTTCTGTTCTACTTCTCCGCGGCCTACTACGCCTCCCGCCGTGTGGGCATCGCGGTGCTCTGGATCAGCCTCATCACCGAGTGGCTCAACCTCATCTTCAAGTGGTGAGACAGAGAAGCCCTCCGGCATCCTGGTCCCCACCCCCGAGGGCCCTGAGTCATGTGTAAGCCCTGGTCTCTTTCAGCAACTGTCTCAAGGGCCTTCCCACCCCTACTCTGTAGTCCCTGATTTTTTTTCCCCTTGAGCATCTTTGTGCAGCTTGGACTCAAACCTCAGAGTCCAACCATCCTACTCATTAGACCAGTGTTCTTCAAACTGGTCTGATGGAAAAATCACCTAAGGGGCGTGTCTAAAATGTAAATATCCCATCCTCATCTCACACTTACTAATTTAGAAACTCCAAGGGGTTGGGAATTTATTTTTTATTTTTTATTTTTGGTTTATGGGAATTCATATTTTAACAAATATGGTGATTTAAGTAGTGGAGAGTCCTACCTCTCAACTCACTTTTTCATTCATGTATTCATTCATTTGCTATAATTTTTCAGAAGCATGCTTTGTGCTGGGCATCACGGTAGCTGCTAAGGACAGAGACACCTTGCAGATTAAGGTGTGGTCCCTGGACCATGCCCAACGGCATAGGCAGCACTTGAAAACTGGCTAAAAACGCAGACTCTCAGGCCCCGGGCCAGAGCTACTGAATCAAAATCTGCATTTTAACAAGGTTCCCAGGTGATTCCCTGTGCGTATGCAGTAAAGTTTGGGCTAAAGCACTGCTTTCCAGGGAACACTTTCTCTTCTTTCTCTTTCATTCACCAGTAGACTCTTCACACTGAGACTTAGAAGCCAGGAATCCCAGGGACATGGGTGGAGGCCCTGTGGCCCCTGGGGCTGGGCATGCAGCCACACCTCCCTTCACCTCAGCCTCTGTTGCCAGATCCTCAGCCTGGGGGAAGGAAGGGAGGCTCATAGGAGGTATTTCAATGAGCTGGAATGACTTGCTGAAAAACAACATAGAGTTCCCCTCCCTTCCACTCTTTTCCACGAGGGCCTCATCCTTATGTAAAGGGAACCACAGTGATCTGTTCACTTCTTTCTTGCCTAATTGCCCTTTGCTTTGTGCTCTCCTCTCTCAAAGTCTGTATAAGCCTCCCCCTCTATTCCTTGTCCCCCAAAGATCACAATCTCCTTCAGACACTATTAATGTCCCCCAAGTGGCAAAGTCCCTATTCATTTTCATTTTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGTCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCAACCTGGCATTCTTTTTTTTTTTTTTTTTATTCTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCA
|
Task1_train_24654
|
This is a variant in G6PC3 (glucose-6-phosphatase catalytic subunit 3), located on Chromosome 17. Is this mutation a likely cause of disease or not?
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCAGAGGATTTTGACATTTTTTTGTCCTCCTTATTCTTTCTCAGCCTTCTCTGTCCATTTCCCACCCCCATTTTCAGACCTGAGAGGCTCACCTAAATAATTTAGGTGTGGATAATTCAGGCTGTAACTGGGGACATGGAGGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCC
|
TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTATATATACTAGGCTCAGTTTTCAGAGGGGAGAGGCAAGTGCCTTCTGTATATCCCTCCCCAGCACGTGGCTTCCTGCCAGCATCTCTTTTGCTATCCCATCTTTTCTCTTTCTGGCCACAGCAGCCTCTTCATTGTGTGGTTCCCAGGGCCCAGCCAAGCACTTGCTAGACCAGAGGATTTTGACATTTTTTTGTCCTCCTTATTCTTTCTCAGCCTTCTCTGTCCATTTCCCACCCCCATTTTCAGACCTGAGAGGCTCACCTAAATAATTTAGGTGTGGATAATTCAGGCTGTAACTGGGGACATGGAGGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCGTGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCC
|
Task1_train_24655
|
Given a variant located on Chromosome 17 and affecting G6PC3 (glucose-6-phosphatase catalytic subunit 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
GGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTT
|
GGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCCGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTT
|
Task1_train_24656
|
A mutation found in G6PC3 (glucose-6-phosphatase catalytic subunit 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
CAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACC
|
CAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACACCCCAAGATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGTCATGTTGCCCAGGCTATTCTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCCAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCTGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACC
|
Task1_train_24657
|
This alteration occurs within gene G6PC3 (glucose-6-phosphatase catalytic subunit 3) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
CAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAA
|
CAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCATGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAA
|
Task1_train_24658
|
The variant affects gene G6PC3 (glucose-6-phosphatase catalytic subunit 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
ACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGG
|
ACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGCGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGG
|
Task1_train_24659
|
A variant was discovered on Chromosome 17, affecting G6PC3 (glucose-6-phosphatase catalytic subunit 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
GGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGGGTCTGC
|
GGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGGCCCTTTTGGTGGGTCCATGAGTCTGGTTACTACAGCCAGGCTCCAGCCCAGGTTCACCAGTTCCCCTCTTCTTGTGAGACTGGTCCAGGTGGGAAGCCTCAAACATTCTCCCTTTCCCAATGTGGTTAGGGTTCGGGTGAACATTTCAGAGTACTTTTCAGCCTGGGTGGCCCAACCAAAGGACCAGCCTCTCAATTACTGGCGCAGAGAACAAAAGAACCCCAGGGAGACCAAGCTGAGTTATGGGAGGAGGGCACTCATGCTATGTACCAGCTGCCCACCTTGTATAGAGGACAGCCAAGAGACACAGATCAGGACAGAAACCTGAGCACAGTGACCTCAAGTGGCAGTAAAAAGGCCTCAGAGCAGAGCGAGTTATGAATCAGTGCTGGGGAAAAGCTCTTCTCAGCCAGGAAAGGCAGCTGTATTATTGAGGCATCACCAGGGGCCCCGGGGTTCTGCCTCCATCTTCTCACCACGAGCTTCTGGATTTGCTGGCAGGCAGCCCTTCTGGACACTGCATGATCACAGGAGCAGCCCTCTGGCCCATAATGACGGCCCTGTCTTCGCAGGTGGCCACTCGGGCCCGCAGGTATACCCTTGGCATTGCCCACCATTGGGAGCAGGGGTGATGGCACCCTGTACCTAATAGACACAGCAGCATGGCAGCCTGGGAGCTGGAGTTTTGGGGACCCTAGGTTGTGTGGTTCAACCATGGAGTACCTGGGTGCTGCAGGAGGCCAAGCTGTGTATGGACACGCTCTGAGCTCCTTGCCTCTCTTCTTTCTAGCCGCTGGGTAAGGGTGATGCCTAGCCTGGCTTATTGCACCTTCCTTTTGGCGGTTGGCTTGTCGCGAATCTTCATCTTAGCACATTTCCCTCACCAGGTGCTGGCTGGCCTAATAACTGGTGAGCAACTGGGGCAACGGGGTGGACTGAGAGGATGCCTTTGGCAGTGGGAGGATCAGTCTAGGATCTTCCCATCGCTCCCAGCTTCTGTAGAGCCCACCCCAGAGGCCCCCCGTTATGTCTCAGTTTATTCTCTTGCCAAGCTGCACTGCAGCTGGGGGTCGGGGTGGGGAGGGTCATATCCCCAGACTCCTTGAAGCTGTTGTCACTCCACTCTCCTAGGCGCTGTCCTGGGCTGGCTGATGACTCCCCGAGTGCCTATGGAGCGGGAGCTAAGCTTCTATGGGTTGACTGCACTGGCCCTCATGCTAGGCACCAGCCTCATCTATTGGACCCTCTTTACACTGGGCCTGGATCTTTCTTGGTAAGTCTCGCTTTGAAGCCTGGGCAGGCTGGGCCCTGTCCTATCTCGCCTGCACCTAGCCTGGTGTGTCTCTGGTTCATTATAGCTAAAAAAGGACACATTACCTATTCACATAGACCCTCACAGGCACAAAACAGAACATGGGAGTGGGCCCCAAGGGCAGATGGCCAAGAGCCAGTGGCCTTCTATGTTCCAGCCTCTCCTGGCAAGAACTCTTCTTCCCCACAGGTCCATCAGCCTAGCCTTCAAGTGGTGTGAGCGGCCTGAGTGGATACACGTGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGCGCATTGCCTTGCACTCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCCTTGTGCTGGCCATGGGGCTGCTGGGCCCCCTGGACTGGCTGGGCCACCCCCCTCAGATCAGCCTCTTCTACATTTTCAATTTCCTCAAGTACACCCTCTGGCCATGCCTAGTCCTGGCCCTCGTGCCCTGGGCAGTGCACATGTTCAGTGCCCAGGAAGCACCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTTCCTTTCCCTCCCACAAAGCCAACACTCTGTGACCACCACACTCCAGGAGGCAGCCCCATCCCCTTCCAGCCCCTAAGTAGGCCCTCCCCTCCCTAAATCTGCTTCCGCACCACCTGGTCTTAGCCCCAAAGATGGGCCTTCTCTCTCCCAGATAAGTTGGTCCTCCCTCTGCCTTTCCTCTCAAGCCCCCAAAGAGCAAAGGCAACAGCAAGACCAGCGGGTTCTTGCAACACTGTGAGGGGCAGCCAGGGCGGCCCCAATAAAGCCCTTGAATACTTTGAGATTCCTTTCTTGCCTATGCGCACATCTCCATGGGCCTTGCCTGTGTGTGCACAAGTGGAACCTTTGCCAGGCTGCTCCAGTAGTCTCTGTGCCATCTCCAGCCCTGTTTCCAGGGGCAGAGAGGCAGGAAAGGAGAGGGCTGTAAACTCAGGTGAGACCTCTCAGCCCTGGGTCCCCTGCCTCATCACTGCCTAGGCCACATGAGAGGTCCCATGAGATGCTGTGACTATATTCGGTATAACCCTGTCTTTTCACTTACAGGACAGATCTTGCGCCCCAACCTCCAGTTTCCTAAATCGGCTTCTAGTCCAGGGGCTGGAGAAAAGAGTAGTGTGTTTGGCTAGGAAGGAGGATGAGAACCTCTACTCCATTTGGGAGCCCAGAGAATAGAGACATTGGCCCCAGAAGGCACTGCCAGAAACAAGTTTATTTACACAAGGACACACAGTGTAACGGGTTACAAAATACTTAACTGAAATCCATATCCAGGGAGACAAAGCAAGGAGTGGGTTTACATGAGAACCAGACCAGCCACAGGGAGAGAGTGGGTAAGGGGCCGGGAGCCTGGGGCTCAGCACAGAGAGGCCTAGTACACTGAGCCTGGCCCCATCCCCATCCCCCAGGAGGATCTAAAACAAACACACAAGCACACTATGAACCGATGGTGCTGGGACTCCTGCCCCTCCCCTGGCTCCCTCAATCCTGCTCAGGCCCCCATAGGATAATAAATATGTAAACAGATTGGTGGGGCCCTGGAGATAGAAGGAGAGAAAGTATATGTGGTACTGGGGAGGAGGAGGAAGGAAGAGTCAGCCCCCTAGGAGCCACTTCCCATCTTTGGTTTCCTACAGGCTGGATGGCATCCCCTGGAAGCCTTGTAGGCCCACAGCCCCTGGCAGGGCTCCTGGGAAAGAGAAGGGACAGCGCCCAGCCCCCTCCTGGTCTTAGCTCCCTTGGGCTGGTGGTCAGCAAAGGGAGCCCAGAAGGTATGGAAGCTCCAGCTGAGAGCCGACTCCTGGATCCCTGGGTTCTGGCCTTACCCCTTCTAGAACCTCCATTCTCACCATCCCCAGGATCCAAAACAAAAGGCCCCAGGAGGGAGGTGAGCCTCTGCCCCTTCTCCCCGCAGCATGCTGGATGGCTGGGAAAATCTGGTCCTGACAGCAGGGGGGCTCTCACCAGCCTGGAGCCCCTCTGCAGGGACCACCTTCTCCCCTTGCCCAGGCTGTGCCAGCAGAGGGGCAGGGAGGCCATCCGAGTAAGGTGGGGAGCAGACCTGGTTCTGTTACTCCTCCTGGCCCCTGAGAACCCAGGAAACCAGTCCTCTCCTTCCCCACACACTTTCACCCTCTCAGCCCCGGGGAAGGGGAAGTAGGCTGTGAGGAGTGTGAGGCAAGACAGCCCTCCTCACAGACTGCAGGCCACAGCTTGGGCACCAGCCTCCCATCAGTGCTGAGACCAAGAGGAAGGAGGAGGAGAGGGGTCTGC
|
Task1_train_24660
|
This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Hereditary spherocytosis type 4
|
AAATAAATTTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTC
|
AAATAAATTTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGCGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTC
|
Task1_train_24661
|
This sequence change occurs on Chromosome 17, altering SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; not provided
|
TTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGC
|
TTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGGGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGC
|
Task1_train_24662
|
The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Renal tubular acidosis, distal, with normal red cell morphology
|
CAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCC
|
CAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGGCAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCC
|
Task1_train_24663
|
This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Hereditary spherocytosis type 4
|
CAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGAT
|
CAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGTTCAAATCCCAGCTGCACGGCTCAGTTCAAATCCCAGCTATGTGACCTTGGGTACGTTCAAAGACAAATGATGACTGCTATAGAACAGTCCCTGTGGAGTTTACAAAGCCCTATTTTACATGTATCTTTGGTCCTCAGTAACCATCCTGTAATGTGGGTATTATCATCAATATACCCATTTTACAGAAGAGGAAATATAGGCTGGAAAGGTCAAGGGACTTGCCCAAGGTCACACAGCAAGCACCCCACCCGCTCACCCACCTCCTGCCTTTGCTTCTACCCCTGCCTGTGCTGGGAAGAGGGAGGGCTCAGATCTAAGTCTTCCAGCACGGGATCCCCAGTGAAAGTGTGGCAACAGGAGGGACTGTGCAACAAACCCCCTAATGTGGGCCCCATCGGCCATCCCCAGCCAGAAAAGCCAGGCTACCCTTTGTGGAAGGTCTCCTGGACACGCCTTCCTTCCCCACCCACAGCCCTGGGGCCTCAGCTGCTGCTCCAGGAGGATCCTGGAGTCCATGAGGTGCCCATGAACTTCTGCTTTTCCTTGGAAGGTGGGGATGTGGAATGGTGGGGGAGGGTCTAGGGCCTGGGCCCGCCCCTCACACAGGCATGGCCACTTCGTCGTATTCATCCCGACCTTCCTCCTCATCAAAGGTTGCCTTGGCATCATCAGCATCCAGCTGGAGGGGAGGGACAGGAGAGAGACAGGGTGAGAGACCCTGGGGCCAGAAGAGCCCTCCCCGGGCACGAAAGGCACCTCTGGAGTTAGGAGAGGGTCTGGCTGTCTTGAACCTTGGACCAGTCCTGTTTTATCTCCCCAGCAGCTAGGACTGGCCTAAATGAGTCGTTGTCAAAGTGAGAGGCAACCCCGGGGATGTGGACCCTGGCAGGGGAGGGCCTGCAGAGGGTGAGCAGGGGACCTTTTCACCAAGGCGGCCCCACAGTGACCTGAGTCACCCTGTGGAAGAATCCTATTAGAGGAGTGACTCTGTCCCAAATGACTCGGAAGACGGCAGGACTTGCTGCTTAGGGGTCCAGCTCACTCACAGCACACCCTGTCTGCCTCTTGACGCTCTCCCCAGTCGTGCCATCATTTCCCCCTTTACAGGTGAGCAAAATGAAGACACAGAGAAACAAGGCCCCGTGCTCCAGATCATATGCTAGGACACAGCAGGCCAGAACCTGGACACCAGCCCTAGCCCCAGACTTTACCCATGACTCTGTCCTGCCTGCCCTAGTTCTGAGACGCGCCCCTCGCATGCTCCCAGCTCTTGTGCCCCAGGCCCAGGCAGCCACTCACACACTGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGTCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGAT
|
Task1_train_24664
|
A variant has been detected on Chromosome 17 in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; not provided
|
GAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAA
|
GAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCACGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAA
|
Task1_train_24665
|
A genetic alteration is present in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Cryohydrocytosis
|
GGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATG
|
GGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGGACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATG
|
Task1_train_24666
|
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
AGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACC
|
AGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACACACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACC
|
Task1_train_24667
|
A variant on Chromosome 17 in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; SLC4A1-related disorder
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24668
|
This sequence variant lies in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24669
|
The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Cryohydrocytosis
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24670
|
A mutation in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24671
|
A genomic change on Chromosome 17 affects SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Southeast Asian ovalocytosis
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24672
|
This sequence variant lies in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; BLOOD GROUP--SWANN SYSTEM
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24673
|
This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; BLOOD GROUP--WALDNER TYPE
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24674
|
Given this variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; BLOOD GROUP--FROESE
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24675
|
A variant affecting Chromosome 17, within the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24676
|
The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Hereditary spherocytosis type 4
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24677
|
An alteration has been detected in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Malaria, susceptibility to
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24678
|
This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; BLOOD GROUP--DIEGO SYSTEM
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24679
|
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGTCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACC
|
Task1_train_24680
|
Here is a genetic alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Cryohydrocytosis
|
CCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATG
|
CCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAGTGGGGGGTCAGGCCCCTATCTGGGGCTGGGAATAAAACACAGGCACCATATGGAGCCATTTCTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGAGACAGGATCTCGCTCTGTCACCCAAGCCAGAGTGCAGTAGTGTGATCTCGGCTCACAACAGACTTAACCTCCTGATCCCAAGTGATCCTCCCGCTTCAGTGTCCCTAGTTGCTGGAACTACAGGCACATACAACCACACCTGGATCATTTTTTTTTTTTTTAATTTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTGGCCTCCCAAAGTGTTGAGATCCCACGCCTGGCCTGGAGCTATTCCTATGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGTGCGACACCACGCCCAGCTGATTTTGTAATTTTAGTAGAGACGTGGTTTCACCATGTTGGACAGGGTGACCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAACCCCCGGCCTCTATCGGTCCTTTTTATAGGTATTACCCCAATTTTACAGATGAGGAAACAGGCTCAGAGAGGTAAACAACCTGCCTAAGGCCACACAGCTGGCAAGGAGTCAAAGCCCTGCCTGCCTGACTTAAGCCCACTCCCTTAACCTAATGAGGGTCACAGAGGTCAAACACACACACCTTTCTCCTCACCCCAGCCCAGAATGCCATCAACTGCCTCCTTTAAGAATTTTCCCTGACCTCTCCATCTGCAACCATGGCACTGCCCACACCGAACCCAGCTCGACTCTTGGCTGCTCCAGAACTGAAATCAACCCCAGTGACCCTTCTTTCTTCTCCCCCACATCCCTGGACTATGGCTAGAGCACCGCCCCTTGTATCAGTCATGGAGCAGCTGAGCTGGAAGAGAACTGGGGGACATCTGTTGAACCCTCCAACTGTGCAGACAGGGAAACTGAGACCCAGAGACAAGGAGGGATACTGGGTTAGCAGCAGGGCAGGGCTAGAACCCACAGTTCACTGGACTTCTGTTGGGTAAGTCAGAAGGTGGGGTCTGGTCTGGAGAAGGCCTCGGAGTGGAGCCCCCTTCCTCCCTGCTCAGACGCCCAGCCCAGTGCCTTGGCCTTTCCTCCAGGATCCCCTCGTGTGAGTAGGGGATGCTGGGGAGATGTGGGGAAGTGGTGCAGGATGGGGGAGGCTGGAGGAGGTGCTGGGTCCGAACAGAAAGGGGAAGGGGAAGGGGCCGGGGGTGAGGGGCAGGAGGATGGTGAAGACGCGACCCAGCTTTCACTCACCCACAAGCACAGCGACCAGGAGTCCACTGATCCGCTGCTCTTTGACCTCCTGGATCTGGGCTGCAGCCCCTGGGGTGCTGGCTTTGCCCATGACAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCGGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATG
|
Task1_train_24681
|
Assess the clinical impact of this variant on gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
CAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTA
|
CAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGAAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTA
|
Task1_train_24682
|
This variant affects the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24683
|
This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Southeast Asian ovalocytosis
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24684
|
Given this context: Chromosome 17, gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Southeast Asian ovalocytosis
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24685
|
An alteration has been detected in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hereditary spherocytosis type 4
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24686
|
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Malaria, susceptibility to
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24687
|
A mutation on Chromosome 17 affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Cryohydrocytosis
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24688
|
This is a variant in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located on Chromosome 17. Is this mutation a likely cause of disease or not?
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24689
|
A change on Chromosome 17 affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24690
|
Consider this mutation in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; BLOOD GROUP--WALDNER TYPE
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24691
|
Assess the clinical impact of this variant on gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; BLOOD GROUP--FROESE
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24692
|
Here is a variant affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24693
|
This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; BLOOD GROUP--SWANN SYSTEM
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24694
|
A variant was discovered in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; BLOOD GROUP--DIEGO SYSTEM
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCTGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCC
|
Task1_train_24695
|
This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia
|
CGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCAT
|
CGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAACATTCAAGGCTGATTCGCAGGCAACGAAGCTTCAGCTTCAGGGAGCTTTGCTTGTACAGGCCCCTCCAAGATCCAGCACCTAATTTTATAGTTGTCATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGAGGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCAT
|
Task1_train_24696
|
This variant impacts the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; SLC4A1-related disorder
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
Task1_train_24697
|
The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
Task1_train_24698
|
This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
Task1_train_24699
|
This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Cryohydrocytosis
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.