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_21600
|
This sequence variant lies in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Combined oxidative phosphorylation defect type 15
|
GCATGCCTATAGTCCTAGTTGCTCAGGAGGCTGAGGCAGCAGGATTGCTTGATCCCTGGAGTTTGAGACCAGCCTGGGCAACACAGCTAGCCCCTATCTCTTAAAAAAAATAAATAAAGATAGTTTATCACTGGCTATTAATTTGGCTGTTAGACATTAGCAAGGAAGATATGTCAGTTTGAAAGACGGGAGAACAAAATATGGCCTGTGTTTAGAGTCTAAATTTATTTTTCCCTAAAGCAAAGAAACGATACAGTTGCATATCAGGAATTTAATTACAATTACAGAAAAATTATATCATTAGTAATAGCATGAAAAAATCTCTATTTGTATATGAAAAGCATAAGGCAAAGAATTTATTTTCCATGGAAGTACAGTTAGGAAGTTCATAATTATTTATTTCTATAGTCCCTTCCTCAAAGGATAAGAGTTTTGCCTAGATTATCACCATAGGTGATTATAAGTAGGGCCAGGCGTAGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAAGAGATCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGTGTGCCTGTAGTCCTAGCTATTCGGGAGGCTGCAGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCTGAGATCACCCCACTACATTCCAGCCGGGGTGACAGAGTGAGACCCCGTCTCAAGAAAAAAAAAAAAAAGTAAATGCAAGTATATTTGCATTCCCACAAGTCTGACATTTTATATCAAGCTCTGTAAACACTGGTCATAGGTTTTCATGAGCAATATGCTTTATTTAATTTTTTTTTGCTTTTTGTTTTTGTTAATTCTATTTCTAACCTAGGAGCTTTAGTAAAATGTTTATTGTGAAAAATTGCAAACATTCACAAAAACGGAGTGAACAGTCTAATGAATCATCATATACACATCATTCAGATTTTTTTTTTTTTTTTTTTGAGACAGGTTCTTGCTCCGTCGCCCAGGCTGGAATGCAGTGGTGCGATCTTGCCTCACTGCCGCCTCAACCTCCTAGGCTGAAGAGATCCTCTCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTATCACCACACCTGGCTAATTTTTTTATTTTTTATATGTTGCCCAGGCTGGTCTTGAACTCCCAGACTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTTTAGGATTACAGGCGTGAGCCACCATGCCTGGCTCAGATTTTAGAACTACCAAAGTTTTGCCACTCTTGTCTCATCTACTCTCTCTCTTGTTTTCTGAAGTAAGTTAAAGCAAATCCCAGATACCACGTTGTTCTTGCGAACTTGTGAATTATTCTTTTCTAAGGGGAAATTAGGTGGTAACAGGCAGAGACTGAATAAACTCCTCAAGTAATTCTAAATAATTGTTTCTAAAAAATTGTTCTAAATTGTTTCTAAATTGTTCTAAACTATAGGTATGACAGGAAAAAATGAATGTTTTAGGACAATTATATTGCATATTGATATACAATATATTCTTATTTCAGGTTCCAAAAATTTTTTGGCCATAGTTTAGAAACCAAGGCCAGCAAAACCAAGATTCAAAACAATTAACATACAAAAATCCATCTCTCATTTATACAATGTATTTTATAGAAATCCGAGTATTAATAATATAACCTATTTCAATTAACAAATTAAAATTCACATATGGACTTTAAAGAGACCCCGCATAAATACCAAAAGACATATGGTTTATGTTAGAAACCAGGAGAAAACAGAAAGGATATAAAAGCAGAAGAAGCACTCTGGAGTCACAGAAATTAGTGAGCACCACCCATTCATCCACTGCCCCCCAAACAGGCTGACATCAACATTTAAAAATCACAAAAATCTCAAGAAAGGAAAATATGTGCTACCTTTTAGGTCTAATTTGCATAATTGTTACTCCAGTAACTGTGTCTCCGTGAAGCACTGTATGGATTACAGGGGCTGGGCCACGCCATCTCGGGAGGCAACTGGGATGAACATTCAATATGCCACTGAGTTAGAAAATGTAGAAATTAGTATGTCAGTGGGCTTTACCACTTCGTTACCACTACCTAAGCTATTATGCTACTTTTCATTAGGAAACTTTCCCAGAAATTTGGAAAAACTGACAGTTAAATCTAAGTCTCGTATCACCTGAAAGGAAAAAAGTTACATGTAAATTCACTCTCTTACCATAAGAAACCAATGACATTTAATTAAAAACAGAGCTAGGACAACTATTTGCTGTTCTAAAGATGTTCTGTCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACTTGAGATCGGGAGTTTGAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAAGACAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTGCAGTGAACCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCGCAAAATCTACAACAGCCCATGATGTCTGGGAGTTTTTAAATAAAATTTTAAAATGCATTTATGACTATAAGAGAACCACTCAAACCCTATTATGCATCTCATGAACAATTCTAATTTTATAGTTTAGTCACATAACTATCCTCACTTCACTTGGTTTACATACAGACTGCCTAAAATAAGCTTTTTCTTTTTTTTTTTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGATGGCTCACTGCAGCCTCAACCTCCCAAGCTCAGGAGATCCTCAGCCCAATCCAACATTCACTGAGCGCACTCCATGTGCAGACACTGTTCTAAGTGTTAGGCATACAAGCAGCAGTGAACCAGACAGAAAAAAAAAATCCTGCCCTCAGAGAGTTTATGTACAAAAAGTGGGAGATAAGCAAGAAAAAACAAAATATGTACAAGGTTTGCCAGATGATGCTGAGGGCTATGGAGAAAATAAAGCAGAGAGGACTATGAGGGGGACATATTACAATTTTAGTAGTGATCAGAGAAAGCTTTACCAACAAGAAAACACTTGAACAAGAACATGAAGAAGGAAATAACTACGCATATATATGGGAGAAAAGCATTCCAGGCAGAGGGAACATTAAGTACAAAGATCTTGAAGAAGGTAAATGCTCGGCAAATTCAAGGCACAGCTGGGAGGCCAGTTAGGCCTGGCCTTTTATTGAGTAAGACAGAAAATTACCAGAGGATTTTGAGCAGAGTGACATGATCTGACTTGTTTTAAAAGGATCACTTTGAGGCAGGGTACAGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCAAGGCAGGAAGATCACATGCAGCCAGGAGTTTGGGACCAGGTTGGGCCACATAGCGAGATCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAGAGTTAGCTGGGTGTGTTGGCACATTCCTATAGTCTCAGCTACTCAGAAGGCTGAGGCAGGAAGATCCCTTGAGTCTGGGGCTGCAGTGAGTTATGATAGCAACACTGTACTCCAGCCTGGGTGACAGCAAGACTGTCTCTAAATTAAACAATAAAATAGAAATAAATAAATAAATAAATAAATACATTTTGGCTGCTGGATTGGTAAAAGACTGAGAGGGCCAAGGACAGAAGTAGGGACCAGTTAGGAGGCTTCTGTAGTAATGTAGGCGAGAGTGGCAGCAGCGGAAGTGATGAGATACAGACAGATTCTACACAGATTTTGAAGGCAGAGCCAATAGGATTTACTGATGGATTGGATATGGGACGTAAGAAATCAAGCATGACTCCAGGATTTTGGTGCAAGCAGCTAGAATGATGGAGTAGCCATTTATTGAGATAAAGATTTTAGGAGATGCTTTGGGTATCTTGAATGTAAAGTGGCTATCAGACATCCAGGAAGAGCTGTGGAGGCAGTAGGTATTAGGGGACTAGAGTTTGGGGACCGAGCTGAGCTA
|
GCATGCCTATAGTCCTAGTTGCTCAGGAGGCTGAGGCAGCAGGATTGCTTGATCCCTGGAGTTTGAGACCAGCCTGGGCAACACAGCTAGCCCCTATCTCTTAAAAAAAATAAATAAAGATAGTTTATCACTGGCTATTAATTTGGCTGTTAGACATTAGCAAGGAAGATATGTCAGTTTGAAAGACGGGAGAACAAAATATGGCCTGTGTTTAGAGTCTAAATTTATTTTTCCCTAAAGCAAAGAAACGATACAGTTGCATATCAGGAATTTAATTACAATTACAGAAAAATTATATCATTAGTAATAGCATGAAAAAATCTCTATTTGTATATGAAAAGCATAAGGCAAAGAATTTATTTTCCATGGAAGTACAGTTAGGAAGTTCATAATTATTTATTTCTATAGTCCCTTCCTCAAAGGATAAGAGTTTTGCCTAGATTATCACCATAGGTGATTATAAGTAGGGCCAGGCGTAGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAAGAGATCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGTGTGCCTGTAGTCCTAGCTATTCGGGAGGCTGCAGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCTGAGATCACCCCACTACATTCCAGCCGGGGTGACAGAGTGAGACCCCGTCTCAAGAAAAAAAAAAAAAAGTAAATGCAAGTATATTTGCATTCCCACAAGTCTGACATTTTATATCAAGCTCTGTAAACACTGGTCATAGGTTTTCATGAGCAATATGCTTTATTTAATTTTTTTTTGCTTTTTGTTTTTGTTAATTCTATTTCTAACCTAGGAGCTTTAGTAAAATGTTTATTGTGAAAAATTGCAAACATTCACAAAAACGGAGTGAACAGTCTAATGAATCATCATATACACATCATTCAGATTTTTTTTTTTTTTTTTTTGAGACAGGTTCTTGCTCCGTCGCCCAGGCTGGAATGCAGTGGTGCGATCTTGCCTCACTGCCGCCTCAACCTCCTAGGCTGAAGAGATCCTCTCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTATCACCACACCTGGCTAATTTTTTTATTTTTTATATGTTGCCCAGGCTGGTCTTGAACTCCCAGACTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTTTAGGATTACAGGCGTGAGCCACCATGCCTGGCTCAGATTTTAGAACTACCAAAGTTTTGCCACTCTTGTCTCATCTACTCTCTCTCTTGTTTTCTGAAGTAAGTTAAAGCAAATCCCAGATACCACGTTGTTCTTGCGAACTTGTGAATTATTCTTTTCTAAGGGGAAATTAGGTGGTAACAGGCAGAGACTGAATAAACTCCTCAAGTAATTCTAAATAATTGTTTCTAAAAAATTGTTCTAAATTGTTTCTAAATTGTTCTAAACTATAGGTATGACAGGAAAAAATGAATGTTTTAGGACAATTATATTGCATATTGATATACAATATATTCTTATTTCAGGTTCCAAAAATTTTTTGGCCATAGTTTAGAAACCAAGGCCAGCAAAACCAAGATTCAAAACAATTAACATACAAAAATCCATCTCTCATTTATACAATGTATTTTATAGAAATCCGAGTATTAATAATATAACCTATTTCAATTAACAAATTAAAATTCACATATGGACTTTAAAGAGACCCCGCATAAATACCAAAAGACATATGGTTTATGTTAGAAACCAGGAGAAAACAGAAAGGATATAAAAGCAGAAGAAGCACTCTGGAGTCACAGAAATTAGTGAGCACCACCCATTCATCCACTGCCCCCCAAACAGGCTGACATCAACATTTAAAAATCACAAAAATCTCAAGAAAGGAAAATATGTGCTACCTTTTAGGTCTAATTTGCATAATTGTTACTCCAGTAACTGTGTCTCCGTGAAGCACTGTATGGATTACAGGGGCTGGGCCACGCCATCTCAGGAGGCAACTGGGATGAACATTCAATATGCCACTGAGTTAGAAAATGTAGAAATTAGTATGTCAGTGGGCTTTACCACTTCGTTACCACTACCTAAGCTATTATGCTACTTTTCATTAGGAAACTTTCCCAGAAATTTGGAAAAACTGACAGTTAAATCTAAGTCTCGTATCACCTGAAAGGAAAAAAGTTACATGTAAATTCACTCTCTTACCATAAGAAACCAATGACATTTAATTAAAAACAGAGCTAGGACAACTATTTGCTGTTCTAAAGATGTTCTGTCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACTTGAGATCGGGAGTTTGAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAAGACAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTGCAGTGAACCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCGCAAAATCTACAACAGCCCATGATGTCTGGGAGTTTTTAAATAAAATTTTAAAATGCATTTATGACTATAAGAGAACCACTCAAACCCTATTATGCATCTCATGAACAATTCTAATTTTATAGTTTAGTCACATAACTATCCTCACTTCACTTGGTTTACATACAGACTGCCTAAAATAAGCTTTTTCTTTTTTTTTTTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGATGGCTCACTGCAGCCTCAACCTCCCAAGCTCAGGAGATCCTCAGCCCAATCCAACATTCACTGAGCGCACTCCATGTGCAGACACTGTTCTAAGTGTTAGGCATACAAGCAGCAGTGAACCAGACAGAAAAAAAAAATCCTGCCCTCAGAGAGTTTATGTACAAAAAGTGGGAGATAAGCAAGAAAAAACAAAATATGTACAAGGTTTGCCAGATGATGCTGAGGGCTATGGAGAAAATAAAGCAGAGAGGACTATGAGGGGGACATATTACAATTTTAGTAGTGATCAGAGAAAGCTTTACCAACAAGAAAACACTTGAACAAGAACATGAAGAAGGAAATAACTACGCATATATATGGGAGAAAAGCATTCCAGGCAGAGGGAACATTAAGTACAAAGATCTTGAAGAAGGTAAATGCTCGGCAAATTCAAGGCACAGCTGGGAGGCCAGTTAGGCCTGGCCTTTTATTGAGTAAGACAGAAAATTACCAGAGGATTTTGAGCAGAGTGACATGATCTGACTTGTTTTAAAAGGATCACTTTGAGGCAGGGTACAGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCAAGGCAGGAAGATCACATGCAGCCAGGAGTTTGGGACCAGGTTGGGCCACATAGCGAGATCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAGAGTTAGCTGGGTGTGTTGGCACATTCCTATAGTCTCAGCTACTCAGAAGGCTGAGGCAGGAAGATCCCTTGAGTCTGGGGCTGCAGTGAGTTATGATAGCAACACTGTACTCCAGCCTGGGTGACAGCAAGACTGTCTCTAAATTAAACAATAAAATAGAAATAAATAAATAAATAAATAAATACATTTTGGCTGCTGGATTGGTAAAAGACTGAGAGGGCCAAGGACAGAAGTAGGGACCAGTTAGGAGGCTTCTGTAGTAATGTAGGCGAGAGTGGCAGCAGCGGAAGTGATGAGATACAGACAGATTCTACACAGATTTTGAAGGCAGAGCCAATAGGATTTACTGATGGATTGGATATGGGACGTAAGAAATCAAGCATGACTCCAGGATTTTGGTGCAAGCAGCTAGAATGATGGAGTAGCCATTTATTGAGATAAAGATTTTAGGAGATGCTTTGGGTATCTTGAATGTAAAGTGGCTATCAGACATCCAGGAAGAGCTGTGGAGGCAGTAGGTATTAGGGGACTAGAGTTTGGGGACCGAGCTGAGCTA
|
Task1_train_21601
|
This sequence variant lies in KBTBD13 (kelch repeat and BTB domain containing 13) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Nemaline myopathy 6
|
GTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAG
|
GTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAACGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAG
|
Task1_train_21602
|
Here’s a variant in KBTBD13 (kelch repeat and BTB domain containing 13) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Nemaline myopathy 6
|
GAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAGAAACTGACCCACTGGCCCAAAGCCACACAGCATAGCAACAAGAGTTCCTCAC
|
GAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACTGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAGAAACTGACCCACTGGCCCAAAGCCACACAGCATAGCAACAAGAGTTCCTCAC
|
Task1_train_21603
|
Here’s a variant in MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; RASopathy
|
TCAGGCAGCTGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTC
|
TCAGGCAGCTGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCCTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTC
|
Task1_train_21604
|
Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; RASopathy
|
TGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTT
|
TGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTCTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTT
|
Task1_train_21605
|
Consider this mutation in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is this a benign change or a disease-causing variant?
|
Pathogenic; RASopathy
|
AACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTG
|
AACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCCTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTG
|
Task1_train_21606
|
This gene mutation involves MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Non-small cell lung carcinoma
|
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
|
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCCGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
|
Task1_train_21607
|
This variant affects gene MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Extracranial arteriovenous malformation
|
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
|
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCCGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
|
Task1_train_21608
|
The gene MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Neoplasm
|
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
|
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCCGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
|
Task1_train_21609
|
The gene MAP2K1 (mitogen-activated protein kinase kinase 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; not provided
|
CAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATT
|
CAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGATGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATT
|
Task1_train_21610
|
Here’s a variant in MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Vascular malformation
|
AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTA
|
AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAATCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTA
|
Task1_train_21611
|
This variant lies on Chromosome 15 and affects the gene MAP2K1 (mitogen-activated protein kinase kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Cardio-facio-cutaneous syndrome
|
TTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTG
|
TTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACAACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTG
|
Task1_train_21612
|
This variant affects the gene MAP2K1 (mitogen-activated protein kinase kinase 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; RASopathy
|
TGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTG
|
TGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGGGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTG
|
Task1_train_21613
|
Gene MAP2K1 (mitogen-activated protein kinase kinase 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; RASopathy
|
AGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCA
|
AGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCTGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCA
|
Task1_train_21614
|
The gene MAP2K1 (mitogen-activated protein kinase kinase 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; RASopathy
|
TTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGA
|
TTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGAACATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGA
|
Task1_train_21615
|
A genomic change on Chromosome 15 affects MAP2K1 (mitogen-activated protein kinase kinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; RASopathy
|
AGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGA
|
AGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCGACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGA
|
Task1_train_21616
|
Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; RASopathy
|
AAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTA
|
AAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTTCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTA
|
Task1_train_21617
|
An alteration has been detected in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
|
AAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAG
|
AAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCGGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAG
|
Task1_train_21618
|
A change on Chromosome 15 affects gene MAP2K1 (mitogen-activated protein kinase kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Cardiofaciocutaneous syndrome 3
|
TTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCT
|
TTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGCCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCT
|
Task1_train_21619
|
A genetic alteration is present in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Cardiofaciocutaneous syndrome 3
|
CTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCAT
|
CTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCAATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCAT
|
Task1_train_21620
|
The gene MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Cardio-facio-cutaneous syndrome
|
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
|
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTGTGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
|
Task1_train_21621
|
This variant affects gene MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Neoplasm
|
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
|
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTGTGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
|
Task1_train_21622
|
Assess the clinical impact of this variant on gene MAP2K1 (mitogen-activated protein kinase kinase 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Cardiofaciocutaneous syndrome 3
|
GCAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCC
|
GCAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGCAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCC
|
Task1_train_21623
|
Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; RASopathy
|
CAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCCA
|
CAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGGGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCCA
|
Task1_train_21624
|
Gene SMAD6 (SMAD family member 6), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Radioulnar synostosis
|
GCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGT
|
GCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGAAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGT
|
Task1_train_21625
|
Here is a variant affecting SMAD6 (SMAD family member 6) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Craniosynostosis 7
|
TTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAG
|
TTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGGGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAG
|
Task1_train_21626
|
This genomic variant is located on Chromosome 15, within the SMAD6 (SMAD family member 6) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Aortic valve disease 1
|
CGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGG
|
CGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCTTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGG
|
Task1_train_21627
|
This variant affects the gene SMAD6 (SMAD family member 6) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Aortic valve disease 2
|
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
|
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCAGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
|
Task1_train_21628
|
A variant has been detected on Chromosome 15 in SMAD6 (SMAD family member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; not provided
|
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
|
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCCGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
|
Task1_train_21629
|
This genomic variant is located on Chromosome 15, within the SMAD6 (SMAD family member 6) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Aortic valve disease 2
|
GGGGCACACTCATGAAACCTGTATCCAGCCCAAAGCCACAGCAGAGCAGTCAGCCTCCAGGAGGCCCCTGAGGCAGACAGCCTCCTGCTGGGTGGCTGGGCGGGCCTCCCAGTGTGTAAGGGGATGTCAGGGGCCCTGCCACCCTGTTCTTCTGGGGCTTCTAGGCAGGGGCAAGACCAAGGCAAAGGCGTCCAGAGCTGGCCTCACTCAGGCTCCCAGGTGAAGCTGTTAGAAGTGTTGTCCTCTGGGATTTGGTTGGACTTTGATCAGTTTTCCTCAGAAAAAGAGCCATGAATTGCTTTGCTTTGCTCTGTCAAGCCTCCAGCAGAACGCCTCCCTCTGCACAGGCCCAGGCCAGAGACCTGTGTGGAAGCAGGCATGGCAGGCAAATCATGTCACCTCACTGGGCAGTTATAGGTGCCTGCCTGCTTCTCAGAGCTGTGAGCTCAAAGGAAAGGCCAGATGTCAGAATCTGAGAAGCTGGCCACATGAGAGCAGGGAGCACCCTGGCCTGTGTTGGTCTGAACTTTGGTCTCAGAAAATTGTTAAACTCCTCCAGACACACAGACGGCCCGAGTCAGTGACAAGGGATTTCAGTAACATCTTAGCTACCCCTTTGCTATACAGTGGGGAAACTGAGGCCCAGAGAGGAGCAGCACACACCTTCAATTGCTGGGCAGCTCCAGAGCCCTTAAGGAGCCATTTTCTTTGTCATTTAGGGACCCTCAGCTCCTCTGCCATGCAGAAGTAGCTGCAGTTCTGGTACAAACCTGCATTTCCTGCCAAGAAAGCCAACTCAGGTGGGCGGTACCAGGAGGCTAAGGCTGAGTCAGGGAGCAGTCAAGCAGTCATATTTATAACAAGGCCACCACAGGAATCCCACTGCTCCAGGCCGGAAGGGATCCTGGGGGCAACTCCTCCCACCCCCAGCCCGCCTCCCTGTGCTTGAGTCCTCTAATGTGATTTCAACCTCCCCCGCCATCCCCCAATAGCCTAACCCTACTCTGTCAGGTTGAGACTTGGACTAGTGGGTTCAAATTCTGGCGGGGTGCCCTCCTCTGTAGAACGAGGAGAAGGTGGCGTCCTTGCAGAGTGATCGTGAGGACCAAGTGAGTCCTGTGTGCTGTGAAGAGTAAGAAGTACAGTGCTCCACGCCGGGTCCGTGATGGTTGCTCCACAGTCAGCCCCTCCTTTGGGGGCGTGCAGGCAGTTGTCTGTCTCTCCTGCTAGCATGAAGAGGCAGGGGCAGGGTGTGCATGGTTCATGTCTGCGTCCGCAGCATCTAGCACACAACAGGTGCTCTCTGGCTTGCACTCTGTGGCTCATAACCTTTGTTTTCTCCTTTGTGTGAGCTTGTGTGTGTGAAAGAGATGTCCCGTTGTGCGCCATATTTCCTGAGGACAACCTGGCACACGGTGCCCACATGACTGCTGAATGCTGGAAACCTTACCCAGCTCCCACTGTGCAGACAGCAGTGCCCACCTCCGCTCCTCGGTGCCTCCCACCTCCCCACCCAGAATAACGCGGCGGTCCCTGTGCTTGTCCCGCAGACGCCAGCATGTCTCCGGACGCCACCAAGCCGAGCCACTGGTGCAGCGTGGCGTACTGGGAGCACCGGACGCGCGTGGGCCGCCTCTATGCGGTGTACGACCAGGCCGTCAGCATCTTCTACGACCTACCTCAGGGCAGCGGCTTCTGCCTGGGCCAGCTCAACCTGGAGCAGCGCAGCGAGTCGGTGCGGCGAACGCGCAGCAAGATCGGCTTCGGCATCCTGCTCAGCAAGGAGCCCGACGGCGTGTGGGCCTACAACCGCGGCGAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCCGGCGGCCGCGCCCTGGTCGTGCGCAAGGTGCCCCCCGGCTACTCCATCAAGGTGTTCGACTTCGAGCGCTCGGGCCTGCAGCACGCGCCCGAGCCCGACGCCGCCGACGGCCCCTACGACCCCAACAGCGTCCGCATCAGCTTCGCCAAGGGCTGGGGGCCCTGCTACTCCCGGCAGTTCATCACCTCCTGCCCCTGCTGGCTGGAGATCCTCCTCAACAACCCCAGATAGTGGCGGCCCCGGCGGGAGGGGCGGGTGGGAGGCCGCGGCCACCGCCACCTGCCGGCCTCGAGAGGGGCCGATGCCCAGAGACACAGCCCCCACGGACAAAACCCCCCAGATATCATCTACCTAGATTTAATATAAAGTTTTATATATTATATGGAAATATATATTATACTTGTAATTATGGAGTCATTTTTACAATGTAATTATTTATGTATGGTGCAATGTGTGTATATGGACAAAACAAGAAAGACGCACTTTGGCTTATAATTCTTTCAATACAGATATATTTTCTTTCTCTTCCTCCTTCCTCTTCCTTACTTTTTATATATATATATAAAGAAAATGATACAGCAGAGCTAGGTGGAAAAGCCTGGGTTTGGTGTATGGTTTTTGAGATATTAATGCCCAGACAAAAAGCTAATACCAGTCACTCGATAATAAAGTATTCGCATTATAGTTTTTTTTAAACTGTCTTCTTTTTACAAAGAGGGGCAGGTAGGGCTTCAGCGGATTTCTGACCCATCATGTACCTTGAAACTTGACCTCAGTTTTCAAGTTTTACTTTTATTGGATAAAGACAGAACAAATTGAAAAGGGAGGAAAGTCACATTTACTCTTAAGTAAACCAGAGAAAGTTCTGTTGTTCCTTCCTGCCCATGGCTATGGGGTGTCCAGTGGATAGGGATGGCGGTGGGGAAAAGAATACACTGGCCATTTATCCTGGACAAGCTCTTCCAGTCTGATGGAGGAGGTTCATGCCCTAGCCTAGAAAGGCCCAGGTCCATGCCCCCCATCTTTGAGTTATGAGCAAGCTAAAAGAAGACACTATTTCTCACCATTTTGTGGAAATGGCCTGGGGAACAAAGACTGAAATGGGCCTTGAGCCCACCTGCTACCTTGCAGAGAACCATCTCGAGCCCCGTAGATCTTTTTAGGACCTCCACAGGCTATTTCCCACCCCCCAGCCAAAAATAGCTCAGAATCTGCCCATCCAGGGCTGTATTAATGATTTATGTAAAGGCAGATGGTTTATTTCTACTTTGTGAAAGGGAAAAGTTGAGGTTCTGGAAGGTTAAATGATTTGCTCATGAGACAAAATCAAGGTTAGAAGTTACATGGAATTGTAGGACCAGAGCCATATCATTAGATCAGCTTTCTGAAGAATATTCTCAAAAAAAGAAAGTCTCCTTGGCCAGATAACTAAGAGGAATGTTTCATTGTATATCTTTTTTCTTGGAGATTTATATTAACATATTAAGTGCTCTGAGAAGTCCTGTGTATTATCTCTTGCTGCATAATAAATTATCCCCAAACTTAGCAGCTTAAAATAACTAACATTTATTATCTCCCACAGTTTCTGCAGGTCAGGAATCTGGGAGCAGCTTAGCCAAGTGGTTCTGGCTCGGGGTCTCTGGTGAGGTTGCCATCAAGCTGTCGGCCAGGGCTGCAGTCATCTGAGTCTTGACTGGGTCTGGGGGACCTGCTCCAAGCTCGCTCATGTAGCTGCTGGCAGGAGCCCTCAGTTCCCTGCCATGTGGGCATCTCCACTGGACTACTTATAACATGGCTTCCCCAGAACAAATGATCCAAAAGAGCAAGGGTGAAGTTGCTGGGGTTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGACGGGGTCTTACTGTGTCACCCAGGCTGGAATGCAGTGGCCCCATCATGACTCACTGCAGCCTCAAACTCCCTGGGCTCAGGTGATCCTCCTGCATCAGCCCCTGAGTAGCTGGGACTACAGGTGCACACCATCATGTCTGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGCCTAGGCTGGTCTTGAAATCCTGAGCTCAAATGATCCTCCCACTTCGGCCCCACAAAGTGTTGTGATTATAGACATGAGCCACCATGCCCAACCTAAGCTGCTGTCTTCTGTAACTAGATCTCAGTAGTGACATACCATCGCTTCTGCCATACTTATTGGTCATACAAACC
|
GGGGCACACTCATGAAACCTGTATCCAGCCCAAAGCCACAGCAGAGCAGTCAGCCTCCAGGAGGCCCCTGAGGCAGACAGCCTCCTGCTGGGTGGCTGGGCGGGCCTCCCAGTGTGTAAGGGGATGTCAGGGGCCCTGCCACCCTGTTCTTCTGGGGCTTCTAGGCAGGGGCAAGACCAAGGCAAAGGCGTCCAGAGCTGGCCTCACTCAGGCTCCCAGGTGAAGCTGTTAGAAGTGTTGTCCTCTGGGATTTGGTTGGACTTTGATCAGTTTTCCTCAGAAAAAGAGCCATGAATTGCTTTGCTTTGCTCTGTCAAGCCTCCAGCAGAACGCCTCCCTCTGCACAGGCCCAGGCCAGAGACCTGTGTGGAAGCAGGCATGGCAGGCAAATCATGTCACCTCACTGGGCAGTTATAGGTGCCTGCCTGCTTCTCAGAGCTGTGAGCTCAAAGGAAAGGCCAGATGTCAGAATCTGAGAAGCTGGCCACATGAGAGCAGGGAGCACCCTGGCCTGTGTTGGTCTGAACTTTGGTCTCAGAAAATTGTTAAACTCCTCCAGACACACAGACGGCCCGAGTCAGTGACAAGGGATTTCAGTAACATCTTAGCTACCCCTTTGCTATACAGTGGGGAAACTGAGGCCCAGAGAGGAGCAGCACACACCTTCAATTGCTGGGCAGCTCCAGAGCCCTTAAGGAGCCATTTTCTTTGTCATTTAGGGACCCTCAGCTCCTCTGCCATGCAGAAGTAGCTGCAGTTCTGGTACAAACCTGCATTTCCTGCCAAGAAAGCCAACTCAGGTGGGCGGTACCAGGAGGCTAAGGCTGAGTCAGGGAGCAGTCAAGCAGTCATATTTATAACAAGGCCACCACAGGAATCCCACTGCTCCAGGCCGGAAGGGATCCTGGGGGCAACTCCTCCCACCCCCAGCCCGCCTCCCTGTGCTTGAGTCCTCTAATGTGATTTCAACCTCCCCCGCCATCCCCCAATAGCCTAACCCTACTCTGTCAGGTTGAGACTTGGACTAGTGGGTTCAAATTCTGGCGGGGTGCCCTCCTCTGTAGAACGAGGAGAAGGTGGCGTCCTTGCAGAGTGATCGTGAGGACCAAGTGAGTCCTGTGTGCTGTGAAGAGTAAGAAGTACAGTGCTCCACGCCGGGTCCGTGATGGTTGCTCCACAGTCAGCCCCTCCTTTGGGGGCGTGCAGGCAGTTGTCTGTCTCTCCTGCTAGCATGAAGAGGCAGGGGCAGGGTGTGCATGGTTCATGTCTGCGTCCGCAGCATCTAGCACACAACAGGTGCTCTCTGGCTTGCACTCTGTGGCTCATAACCTTTGTTTTCTCCTTTGTGTGAGCTTGTGTGTGTGAAAGAGATGTCCCGTTGTGCGCCATATTTCCTGAGGACAACCTGGCACACGGTGCCCACATGACTGCTGAATGCTGGAAACCTTACCCAGCTCCCACTGTGCAGACAGCAGTGCCCACCTCCGCTCCTCGGTGCCTCCCACCTCCCCACCCAGAATAACGCGGCGGTCCCTGTGCTTGTCCCGCAGACGCCAGCATGTCTCCGGACGCCACCAAGCCGAGCCACTGGTGCAGCGTGGCGTACTGGGAGCACCGGACGCGCGTGGGCCGCCTCTATGCGGTGTACGACCAGGCCGTCAGCATCTTCTACGACCTACCTCAGGGCAGCGGCTTCTGCCTGGGCCAGCTCAACCTGGAGCAGCGCAGCGAGTCGGTGCGGCGAACGCGCAGCAAGATCGGCTTCGGCATCCTGCTCAGCAAGGAGCCCGACGGCGTGTGGGCCTACAACCGCGGCGAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCCGGCGGCCGCGCCCTGGTCGTGCGCAAGGTGCCCCCCGGCTACTCCATCAAGGTGTTCGACTTCGAGCGCTCGGGCCTGCAGCACGCGCCCGAGCCCGACGCCGCCGACGGCCCCTACGACCCCAACAGCGTCCGCATCAGCTTCGCCAAGGGCTGGGGGCCCTGCTACTCCCGGCAGTTCATCACCTCCTTCCCCTGCTGGCTGGAGATCCTCCTCAACAACCCCAGATAGTGGCGGCCCCGGCGGGAGGGGCGGGTGGGAGGCCGCGGCCACCGCCACCTGCCGGCCTCGAGAGGGGCCGATGCCCAGAGACACAGCCCCCACGGACAAAACCCCCCAGATATCATCTACCTAGATTTAATATAAAGTTTTATATATTATATGGAAATATATATTATACTTGTAATTATGGAGTCATTTTTACAATGTAATTATTTATGTATGGTGCAATGTGTGTATATGGACAAAACAAGAAAGACGCACTTTGGCTTATAATTCTTTCAATACAGATATATTTTCTTTCTCTTCCTCCTTCCTCTTCCTTACTTTTTATATATATATATAAAGAAAATGATACAGCAGAGCTAGGTGGAAAAGCCTGGGTTTGGTGTATGGTTTTTGAGATATTAATGCCCAGACAAAAAGCTAATACCAGTCACTCGATAATAAAGTATTCGCATTATAGTTTTTTTTAAACTGTCTTCTTTTTACAAAGAGGGGCAGGTAGGGCTTCAGCGGATTTCTGACCCATCATGTACCTTGAAACTTGACCTCAGTTTTCAAGTTTTACTTTTATTGGATAAAGACAGAACAAATTGAAAAGGGAGGAAAGTCACATTTACTCTTAAGTAAACCAGAGAAAGTTCTGTTGTTCCTTCCTGCCCATGGCTATGGGGTGTCCAGTGGATAGGGATGGCGGTGGGGAAAAGAATACACTGGCCATTTATCCTGGACAAGCTCTTCCAGTCTGATGGAGGAGGTTCATGCCCTAGCCTAGAAAGGCCCAGGTCCATGCCCCCCATCTTTGAGTTATGAGCAAGCTAAAAGAAGACACTATTTCTCACCATTTTGTGGAAATGGCCTGGGGAACAAAGACTGAAATGGGCCTTGAGCCCACCTGCTACCTTGCAGAGAACCATCTCGAGCCCCGTAGATCTTTTTAGGACCTCCACAGGCTATTTCCCACCCCCCAGCCAAAAATAGCTCAGAATCTGCCCATCCAGGGCTGTATTAATGATTTATGTAAAGGCAGATGGTTTATTTCTACTTTGTGAAAGGGAAAAGTTGAGGTTCTGGAAGGTTAAATGATTTGCTCATGAGACAAAATCAAGGTTAGAAGTTACATGGAATTGTAGGACCAGAGCCATATCATTAGATCAGCTTTCTGAAGAATATTCTCAAAAAAAGAAAGTCTCCTTGGCCAGATAACTAAGAGGAATGTTTCATTGTATATCTTTTTTCTTGGAGATTTATATTAACATATTAAGTGCTCTGAGAAGTCCTGTGTATTATCTCTTGCTGCATAATAAATTATCCCCAAACTTAGCAGCTTAAAATAACTAACATTTATTATCTCCCACAGTTTCTGCAGGTCAGGAATCTGGGAGCAGCTTAGCCAAGTGGTTCTGGCTCGGGGTCTCTGGTGAGGTTGCCATCAAGCTGTCGGCCAGGGCTGCAGTCATCTGAGTCTTGACTGGGTCTGGGGGACCTGCTCCAAGCTCGCTCATGTAGCTGCTGGCAGGAGCCCTCAGTTCCCTGCCATGTGGGCATCTCCACTGGACTACTTATAACATGGCTTCCCCAGAACAAATGATCCAAAAGAGCAAGGGTGAAGTTGCTGGGGTTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGACGGGGTCTTACTGTGTCACCCAGGCTGGAATGCAGTGGCCCCATCATGACTCACTGCAGCCTCAAACTCCCTGGGCTCAGGTGATCCTCCTGCATCAGCCCCTGAGTAGCTGGGACTACAGGTGCACACCATCATGTCTGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGCCTAGGCTGGTCTTGAAATCCTGAGCTCAAATGATCCTCCCACTTCGGCCCCACAAAGTGTTGTGATTATAGACATGAGCCACCATGCCCAACCTAAGCTGCTGTCTTCTGTAACTAGATCTCAGTAGTGACATACCATCGCTTCTGCCATACTTATTGGTCATACAAACC
|
Task1_train_21630
|
The gene LOC130057352, SMAD3 (ATAC-STARR-seq lymphoblastoid silent region 6574| SMAD family member 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Aortic aneurysm
|
ACGGGAAGAGGAGAGTGAAACCTAAGACCACAGCGGCAGCGCGTTAACAGGAGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAACAAAGCAGGGGTGGGGGTGGGAGATTCCTGCTGTTAAAAACAAACAAAGGGCTTAGACACCGGCTAGTCGGCTGCGGGAGGCAGCAAGAGAAAGGCCGAGGGGCCTGGAGTAGCTCCTGAAAACCGCCGAGGGCCCTGCGGGCAGACGCCCCTGAATTCTTTTGGTGGGGAGAAAAGCCGCGGAGCTCCCCAATGTGCCAATTGGTTTGTTGTTGTTTTGCTTTTTTTGAATACACAAACTCTCCGAAAACTCCTGTCTTGCCCCACTTTTTTGTGAGTTCATTGCTTTGGAAACAAAACTCTCTTCCATTTATTGGCAATTATCAAATTTCCGATCCTTCTCTATCAGGAGATCCAGCAACAAACACCCTGTTATGTAAATTTCTTTCAAAGATAAATTCGAAAGCCCCTCCATTCATTCCTTCAAGAACTCAACAGATGTCCTTGAGGCTCATTTTCTGCCGGGCACTCGGTTCACAAGGCTCAAGAGACCCCTGGCTCCAGCCATTGTCCAGGTTGTCACTGGTGTCCCCAGCTCTCCACTTCTGAGGACCCACTTCTCACCCCCTCCTCCTCCGCACACGTTCCCGAGGCTCTCGGCCGGTGTGATCTCACCGACTAGAGAATAAAAACAGCCCAGGGGCGCCGGCGCCGGCCAAGGGCCTTGACGGGGATCAGCAAGCGCGAGGCCAAGTGCGGGCCCCAACTTCCTGGGCCCGGGCCTTCCGCGCGCCCCCTCTCGGGCTCGGGTCCTCTCCAGGGTGCACTCGCGTCCGGACGACGCTTACTTGCTGCGAGTCCAACCCTCTCCGGCCCGCAACTCCAACCGAGCCGCCCGAGTGTGGACTCCGAGAGCGGACGCCACGGGCCGCGCTCAGCCCTCCCGCCCGAGGCCCCTCTCGCCGTGTTTCCCAGGACTTCCTCCCCGCGCCCGCCCGACTTCAGGTCGGGGCCGCGCAGGGTCCCGCGCGCTCCAGCCAGGACTGCCGCCGCCCGGGTCGCCCACGTGGGCGTGCTGGGCGCGGGGTGGTGGCCGGCCGGGCGCCCTCCCCGGAGCAGGGGGCGGGCAGGGCGCCCGCGGGAGGAGGTGGCGGGGCGCGGGGGAGGAGGCGGGGAGCCCCGGCGGCGAGGGGGCGGTGACAGCACTTGGAAAGGAGGCTGCACGCGGATTTGCATGAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAGGTGGGGGCCCGCCCGGGGGGGACCCGGGGTCACGCCGGCCCAGCCCCCTGGCACTGCGGGGCCGACCCAGTGGGGCTGGAGATGGGAAGAGGGAGAGAGAGGGAGGGAGTGAGACTGTGTGGGTGCGTGTGTGTGAGAGTGGGAGAGCGCGGGCAGGAAGGGGGTGGGGGGACCCCAAACAAAACCATCTCTGATTTGCAAAGATCAGAGCCCGAGGCTTCCACGCGGCACTCTGGCTTCCACACCTCACATTCCCTTTCCACCTCCGGGAGGGGAGAGCGGGTTGCTGCGGGACTCGGCCGCCCCCACTCCGGGGAGCTGGGGCTGGAAGTTGAGGCCCGCTTTGTTCGGCTCCGCGGGCCGGAGCCCCTCCTCCGCCGCCGCCTCCCGCCCCCGCGGCCCGCGCTCGTGGAGGTGGTGGTGTCTTTGCGTTTCTTTTCTTCAGTCGGGTCTCCCCACTTTCCTCTACAGGAATGCGGTCCGTACAGCTGGGGCTGTGGGTGAGGAGCGGGAGCCTAGTGATTGACAGATTCCTTCTTCGTTCTTTCTTTGCCTTCGGGATTAGCATTTTTATCGAGTATTTTTAGACTCGGTTGTGCCAGTCTCCCGCCCCCTGAGCATGCACGCACTTTGGTTGCAGTGCAATGCTCTGACTTCCAAATGGGAGAGACAAGTGGCGGAAAATAGGGTCTTCTCCCACCTCCCACCCCCCCATCCCGACTCTTTTGCCCTTCTTTTGGTCCAAGAGATTTTGAAACCGTGCAGAACGAGGGAGAGGGGCAGGCTGCAGCCGGGCAGATAACAAAACACACCCCAAAGTGGGCCTCGCATCGGCCCTCGCATTCCTGTAGAGCCTTCCTTCCCAAAGCGCGCTGCCATCTGTCTGGATCTCCTTTATCCTTCCCGTTGCGCGCTAGCTAGGTCGGGCGGGAGCCCACAGATGGCTGATAGAAGGGGTCAGTGACTTCACTCCCCCAGGGCCTTCCTTAGCTTAGATGTGCCTGGCTGGGAACTGGGGGTGCGGGTACCTTGGCTTCCTGTCTCTACCTCTCAGCCTCCTTTGATGCTGAACCAAGGGAGAGAGCGTGTGTGTTGGGGGCTGGCTCTTTTGGGGGTCCCAGGCTGCCGAGGAATGAGTAGAAAGCACCAGGGACTGTCAGCCGCAAAGGGATTGTCATCCCTGCTCCTGGGCCAGGGTGGACTCCATCCTTGGCCACCTGCTTGGGGCAGTTGTACAGGGGCTGCCAGGCGAGTCAGGCAGGCACAAAGCAACATCTGTCCACGGGAACCGAGGGCAGGCCTCCCCTGGAAATAAATGCCACATATGGTGGGAGTGCGGACTTAAATTTTTTTTAACTGGGTGGATCCAGTCAATAAAGGGGGAGGGAAGGCGGTGTGCTGTCTGGGGAAGTCTCTGGGCGTGTGATCGGGAGCCAGAATTGACTTCAGAGGAGGTGGTGTGATGTGATGGTCAGAGAGACCTGGGATTTGGTTCCAGCTCTGGTTGTTAATTCTTCTGTATTCCTTCCGTGGGGGTGGCTAGGGTAGAGTGGGTGAGTATGCTACTTCTCTTTCTGGGGAGGGGTCTGCCAAACCTACCTTCTCCTTATCTGCCTGGGTGCATTGAAGACAAGTGCTTTATGTATTGAAACAGAAGAAAAAAAGTGGTATCAATTGTAAAACAGGCAGCTGTGAAAAGTGTTTCACAGTTTACAAAGCACTTTCACATGGTTTTCTGAGGTCCTCAAAAAAAGACAGAAAGCAAGCAAGCAACCAGCCATGGAAAGTAGATAAGGTTGTTAGGCTTAAGATTATCACATTTTTAAAGCAGAGGAAACCTTA
|
ACGGGAAGAGGAGAGTGAAACCTAAGACCACAGCGGCAGCGCGTTAACAGGAGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAACAAAGCAGGGGTGGGGGTGGGAGATTCCTGCTGTTAAAAACAAACAAAGGGCTTAGACACCGGCTAGTCGGCTGCGGGAGGCAGCAAGAGAAAGGCCGAGGGGCCTGGAGTAGCTCCTGAAAACCGCCGAGGGCCCTGCGGGCAGACGCCCCTGAATTCTTTTGGTGGGGAGAAAAGCCGCGGAGCTCCCCAATGTGCCAATTGGTTTGTTGTTGTTTTGCTTTTTTTGAATACACAAACTCTCCGAAAACTCCTGTCTTGCCCCACTTTTTTGTGAGTTCATTGCTTTGGAAACAAAACTCTCTTCCATTTATTGGCAATTATCAAATTTCCGATCCTTCTCTATCAGGAGATCCAGCAACAAACACCCTGTTATGTAAATTTCTTTCAAAGATAAATTCGAAAGCCCCTCCATTCATTCCTTCAAGAACTCAACAGATGTCCTTGAGGCTCATTTTCTGCCGGGCACTCGGTTCACAAGGCTCAAGAGACCCCTGGCTCCAGCCATTGTCCAGGTTGTCACTGGTGTCCCCAGCTCTCCACTTCTGAGGACCCACTTCTCACCCCCTCCTCCTCCGCACACGTTCCCGAGGCTCTCGGCCGGTGTGATCTCACCGACTAGAGAATAAAAACAGCCCAGGGGCGCCGGCGCCGGCCAAGGGCCTTGACGGGGATCAGCAAGCGCGAGGCCAAGTGCGGGCCCCAACTTCCTGGGCCCGGGCCTTCCGCGCGCCCCCTCTCGGGCTCGGGTCCTCTCCAGGGTGCACTCGCGTCCGGACGACGCTTACTTGCTGCGAGTCCAACCCTCTCCGGCCCGCAACTCCAACCGAGCCGCCCGAGTGTGGACTCCGAGAGCGGACGCCACGGGCCGCGCTCAGCCCTCCCGCCCGAGGCCCCTCTCGCCGTGTTTCCCAGGACTTCCTCCCCGCGCCCGCCCGACTTCAGGTCGGGGCCGCGCAGGGTCCCGCGCGCTCCAGCCAGGACTGCCGCCGCCCGGGTCGCCCACGTGGGCGTGCTGGGCGCGGGGTGGTGGCCGGCCGGGCGCCCTCCCCGGAGCAGGGGGCGGGCAGGGCGCCCGCGGGAGGAGGTGGCGGGGCGCGGGGGAGGAGGCGGGGAGCCCCGGCGGCGAGGGGGCGGTGACAGCACTTGGAAAGGAGGCTGCACGCGGATTTGCATGAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCGTGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAGGTGGGGGCCCGCCCGGGGGGGACCCGGGGTCACGCCGGCCCAGCCCCCTGGCACTGCGGGGCCGACCCAGTGGGGCTGGAGATGGGAAGAGGGAGAGAGAGGGAGGGAGTGAGACTGTGTGGGTGCGTGTGTGTGAGAGTGGGAGAGCGCGGGCAGGAAGGGGGTGGGGGGACCCCAAACAAAACCATCTCTGATTTGCAAAGATCAGAGCCCGAGGCTTCCACGCGGCACTCTGGCTTCCACACCTCACATTCCCTTTCCACCTCCGGGAGGGGAGAGCGGGTTGCTGCGGGACTCGGCCGCCCCCACTCCGGGGAGCTGGGGCTGGAAGTTGAGGCCCGCTTTGTTCGGCTCCGCGGGCCGGAGCCCCTCCTCCGCCGCCGCCTCCCGCCCCCGCGGCCCGCGCTCGTGGAGGTGGTGGTGTCTTTGCGTTTCTTTTCTTCAGTCGGGTCTCCCCACTTTCCTCTACAGGAATGCGGTCCGTACAGCTGGGGCTGTGGGTGAGGAGCGGGAGCCTAGTGATTGACAGATTCCTTCTTCGTTCTTTCTTTGCCTTCGGGATTAGCATTTTTATCGAGTATTTTTAGACTCGGTTGTGCCAGTCTCCCGCCCCCTGAGCATGCACGCACTTTGGTTGCAGTGCAATGCTCTGACTTCCAAATGGGAGAGACAAGTGGCGGAAAATAGGGTCTTCTCCCACCTCCCACCCCCCCATCCCGACTCTTTTGCCCTTCTTTTGGTCCAAGAGATTTTGAAACCGTGCAGAACGAGGGAGAGGGGCAGGCTGCAGCCGGGCAGATAACAAAACACACCCCAAAGTGGGCCTCGCATCGGCCCTCGCATTCCTGTAGAGCCTTCCTTCCCAAAGCGCGCTGCCATCTGTCTGGATCTCCTTTATCCTTCCCGTTGCGCGCTAGCTAGGTCGGGCGGGAGCCCACAGATGGCTGATAGAAGGGGTCAGTGACTTCACTCCCCCAGGGCCTTCCTTAGCTTAGATGTGCCTGGCTGGGAACTGGGGGTGCGGGTACCTTGGCTTCCTGTCTCTACCTCTCAGCCTCCTTTGATGCTGAACCAAGGGAGAGAGCGTGTGTGTTGGGGGCTGGCTCTTTTGGGGGTCCCAGGCTGCCGAGGAATGAGTAGAAAGCACCAGGGACTGTCAGCCGCAAAGGGATTGTCATCCCTGCTCCTGGGCCAGGGTGGACTCCATCCTTGGCCACCTGCTTGGGGCAGTTGTACAGGGGCTGCCAGGCGAGTCAGGCAGGCACAAAGCAACATCTGTCCACGGGAACCGAGGGCAGGCCTCCCCTGGAAATAAATGCCACATATGGTGGGAGTGCGGACTTAAATTTTTTTTAACTGGGTGGATCCAGTCAATAAAGGGGGAGGGAAGGCGGTGTGCTGTCTGGGGAAGTCTCTGGGCGTGTGATCGGGAGCCAGAATTGACTTCAGAGGAGGTGGTGTGATGTGATGGTCAGAGAGACCTGGGATTTGGTTCCAGCTCTGGTTGTTAATTCTTCTGTATTCCTTCCGTGGGGGTGGCTAGGGTAGAGTGGGTGAGTATGCTACTTCTCTTTCTGGGGAGGGGTCTGCCAAACCTACCTTCTCCTTATCTGCCTGGGTGCATTGAAGACAAGTGCTTTATGTATTGAAACAGAAGAAAAAAAGTGGTATCAATTGTAAAACAGGCAGCTGTGAAAAGTGTTTCACAGTTTACAAAGCACTTTCACATGGTTTTCTGAGGTCCTCAAAAAAAGACAGAAAGCAAGCAAGCAACCAGCCATGGAAAGTAGATAAGGTTGTTAGGCTTAAGATTATCACATTTTTAAAGCAGAGGAAACCTTA
|
Task1_train_21631
|
Consider this mutation in SMAD3 (SMAD family member 3) on Chromosome 15. Is this a benign change or a disease-causing variant?
|
Pathogenic; Aneurysm-osteoarthritis syndrome
|
TTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCT
|
TTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCATCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCT
|
Task1_train_21632
|
An alteration has been detected in SMAD3 (SMAD family member 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
|
CCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCT
|
CCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGTCCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCT
|
Task1_train_21633
|
A variant has been detected on Chromosome 15 in SMAD3 (SMAD family member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
|
ACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGC
|
ACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACGCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGC
|
Task1_train_21634
|
This genomic variant is located on Chromosome 15, within the SMAD3 (SMAD family member 3) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Aneurysm-osteoarthritis syndrome
|
GGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTG
|
GGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAAGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTG
|
Task1_train_21635
|
The gene SMAD3 (SMAD family member 3), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
|
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
|
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
|
Task1_train_21636
|
This sequence change occurs on Chromosome 15, altering SMAD3 (SMAD family member 3). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Aneurysm-osteoarthritis syndrome
|
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
|
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
|
Task1_train_21637
|
Chromosome 15 houses a mutation in gene SMAD3 (SMAD family member 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Ehlers-Danlos syndrome
|
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
|
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
|
Task1_train_21638
|
Here is a genetic alteration in SMAD3 (SMAD family member 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
|
GTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCTTCATTTTTCCAGATGTTTGGAATCCATTTTGTTTTGCAGTCATGCTGCACTCAGGCCAAACCCATTTCAATATTGGCCTTGGGCCACCGTTTGTAATGAAATCCAGATGAGCATGACTTATGGAAAGTCAGATTCTCATTAGAGGATTTCATCCTGTAAAATCCTCCTCTTCCACTTACCGTATTTTAGCTGCTGTTCTTCTGTGTCTGCCCCAGGGTGTCAGGGAACACAGCCCCTTGGTTTCTTGGGTGTCTCTGAAATCCAGGAGTGACCAGTGGAGCAATCAAAGTGGTCAGACCTCAAAAGAACTTACAACTATGTTATGGCCTGAAGAGATCAGCCCAGGCCCAAAGGTCTAGCCAGAGAAATGTTTTAAGCAATCTTTTAGCCCTGGCTTAGCTCATTTAGGGAACAGGAGTGAAAGGTTAGAAAATTAATCTTTTTTTAGTGAAGAAGGGAAATATTTAAAGATGGACTGCAGTGGAAAAGAGTAAGGGGATGTCCATTTGCTCTTCTTATACCAGACTGTAGTCTGGAGGGCCACACTCAGGTACCCTCGCTCGTGCAGACACCCCAGGGTCTGTCTGCAGGCCCATTTCTCAACCTCCCTGCTACACAAGCAAAGTAGAGGCCAAGCAAGGAGGGTGGTGCCTTCAAGACAGCAACACTGTTCCTGGTGTGGCATTGCAGCTCTCCCGCTCCAAGTGCTAGGAAGAGGCTCTTTGGTGGCAGAGCCTTTCCCTGGGGACACTATCACCACGCGGGATGTCCTGCCAGCACACCCAGTCCTCTGTGGCCCACCGCGTCACCGCTGCCTGGCAGCACTGCACAGCAGCCTGACGGGCGGGCGCGGCCCCTTCCCAGAACAGCCTTGTCGTCCTCCTGCCTCTTGGGCCAAGGAGAGTAAGGTTTCAGCTCTTCTCTCTGTGAGGTGGCTGAAAGCAGGGCCCAGGGCCCACACCTCTCACCTCCAGCTGGCACCAGCGACTCCAGCCTCAGCAGATAGCCTTTGCTCAGTGGAGGCCTTTGGGAGCCTGCCTGCAAGCTGCGTCATCAACCAGCCTGAATTTAGACAAAGTGCTTTGGGGAAAAGAAACGTGTGGTGTGCCTTGTTTTTTTCCAGTAATTGTTCCATGGCTCGTTCTGCTTGTAAGATTTTCCAAAATAAGGCCGTAGATGAGAATTATATCAGCACATTGGGAACCGAAGGCATGCGGACACTGTTGGCGCTTTGTAAAAAACACCCCTCAATCAGACAGACACACGTCATCGTCGCCTGCTGGGGCTGGGCCCAGATTTCGAGATAGGGGAGCGGCACGTGCCCGTTTGGTACAGATGGGAGCCAGGAAGCCCTTTGCTCAGGATGGAGGTCTCCTCTATTAGGGGGCCTGTTACAGTAACTGGTGGGCCTCTGGGGTACCCTGCAATTGACTTTACATATTTAACTCTTTGCCATTGACTTTACATGTTTAACTCTTTAAAGTCGACTTCCTTCCCCCTCAAGAGAACTTAATTTACTCAAAGTCCTCCCTGGGTAGAGGAGTTTGGCCGGGTAGTTTCAGCAAGTTACTGGTACCGCTTCTAGGACAGCGTCTAACAGCATCTTTGGGAAGATGACTGTCACCAAAGCAGAAAAAGCTTTCTGACTTGTGTAACCCCCTGGAGATTTTTTAAGTCCCCCACCCCACCCCTTTCCCTATTTCTTACAGGAGACAGACTGTGACCAGTACCCCCTGCTGGATTGAGCTGCACCTGAATGGGCCTTTGCAGTGGCTTGACAAGGTCCTCACCCAGATGGGCTCCCCAAGCATCCGCTGTTCCAGTGTGTCTTAGAGACATCAAGTATGGTAGGGGAGGGCAGGCTTGGGGAAAATGGCCATGCAGGAGGTGGAGAAAATTGGAACTCTACTCAACCCATTGTTGTCAAGGAAGAAGAAATCTTTCTCCCTCAACTGAAGGGGTGCACCCACCTGTTTTCTGAAACACACGAGCAAACCCAGAGGTGGATGTTATGAACAGCTGTGTCTGCCAAACACATTTACCCTTTGGCCCCACTTTGAAGGGCAAGAAATGGCGTCTGCTCTGGTGGCTTAAGTGAGCAGAACAGGTAGTATTACACCACCGGCCCCCTCCCCCCAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACAGTCCAACCAGAAACACCCCTCTGTCTAGGACTGCAGTGTGGAGTTCACCTTGGAAGGGCGTTCTAGGTAGGAAGAGCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGACGCTTGTGACAGTGCCTCTTCCAGTGAACATTCCCAGCCCAGCCCCGCCCCGCCCCGCCCCACCACTCCAGCAGACCTTGCCCCTTGTGAGCTGGATAGACTTGGGATGGGGAGGGAGGGAGTTTTGTCTGTCTCCCTCCCCTCTCAGAACATACTGATTGGGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACAGCGGGAAAAATCGATGAGCGCCACCTCTTTAAAAACTCACTTACGTTTGTCCTTTTTCACTTTGAAAAGTTGGAAGGATCTGCTGAGGCCCAGTGCATATGCAATGTATAGTGTCTATTATCACATTAATCTCAAAGAGATTCGAATGACGGTAAGTGTTCTCATGAAGCAGGAGGCCCTTGTCGTGGGATGGCATTTGGTCTCAGGCAGCACCACACTGGGTGCGTCTCCAGTCATCTGTAAGAGCTTGCTCCAGATTCTGATGCATACGGCTATATTGGTTTATGTAGTCAGTTGCATTCATTAAATCAACTTTATCATATGCTCTTTTAAATGTTTGGTTTATATATTTTCTTTAAAAATCCTGGGCTGGCACATTGACTGGGAAACCTGAGTGAGACCCAGCAACTGCTTCTCTCCCTTCTCTCTCCTGAGGTGAAGCTTTTCCAGGTTTTGTTGAAGAGATACCTGCCAGCACTTCTGCAAGCTGAAATTTACAGAAGCAAATTCACCAGAAGGGAAACATCTCAGGCCAACATAGGCAAATGAAAAGGGCTATTAAAATATTTTTACACCTTTGAAAATTGCAGGCTTGGTACAAAGAGGTCTGTCATCTTCCCCCTGGGATATAAGATGATCTAGCTCCCGGTAGAGGATCACCGGTGACAACTATAGCAGTTGTATTGTGTAACAAGTACTGCTCCCAGCAGCAATTAGGGAGAAAACTAGTCTAAATTATTTCAACTGGAAAAAAGAAAAAAGAGTCCTCTTCTTTTCCCAGCCTTTTGCAGAACACAGTAGACAGAACTGCCACCTTCAATTGGTACTTTATTCTTTGCTGCTGTTTTTGTATAAAATGACCTATCCCACGTTTTTGCATGAATTTATAGCAGGAAAAATCAAGGGATTTCCTATGGAAGTCCTGCTTTATTCCAGGTGAAGGGAAGGAAGTGTATATACTTTTGGCAAGTCATACAGCTCAAATGTGATGAGATTTCTGATGTTAGAGGGAGATGGAGAGGCTTCCTGATGCCTCATCTGCAGGGTCCTGTGCCTCTGAAGTTCTAGCCATGAGGTTTCCAGGTAGGACAGCTGCTCCCCAAGCCTCCTGAGGACACAGGAAGAGACGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCTCGAAGGAGGGTTGACTCAGAACCCAGAGACAATACAAAACCCCTCACTTCCTCTGAGAGGGCCAAATGCTGTGAGTCTGAAGTATGTGCCTGGTGTGAAATGATCTATGGCCTGTTTCTTACACAGGAAGCCCCCTGAACCTCCTGTACATGTGTTCATGTTCCCAGCCAGCTCTGAGACCCAGGAACCAAATATTCCATTTTGGCTTCTGCTAGAGCAGTCATG
|
GTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCTTCATTTTTCCAGATGTTTGGAATCCATTTTGTTTTGCAGTCATGCTGCACTCAGGCCAAACCCATTTCAATATTGGCCTTGGGCCACCGTTTGTAATGAAATCCAGATGAGCATGACTTATGGAAAGTCAGATTCTCATTAGAGGATTTCATCCTGTAAAATCCTCCTCTTCCACTTACCGTATTTTAGCTGCTGTTCTTCTGTGTCTGCCCCAGGGTGTCAGGGAACACAGCCCCTTGGTTTCTTGGGTGTCTCTGAAATCCAGGAGTGACCAGTGGAGCAATCAAAGTGGTCAGACCTCAAAAGAACTTACAACTATGTTATGGCCTGAAGAGATCAGCCCAGGCCCAAAGGTCTAGCCAGAGAAATGTTTTAAGCAATCTTTTAGCCCTGGCTTAGCTCATTTAGGGAACAGGAGTGAAAGGTTAGAAAATTAATCTTTTTTTAGTGAAGAAGGGAAATATTTAAAGATGGACTGCAGTGGAAAAGAGTAAGGGGATGTCCATTTGCTCTTCTTATACCAGACTGTAGTCTGGAGGGCCACACTCAGGTACCCTCGCTCGTGCAGACACCCCAGGGTCTGTCTGCAGGCCCATTTCTCAACCTCCCTGCTACACAAGCAAAGTAGAGGCCAAGCAAGGAGGGTGGTGCCTTCAAGACAGCAACACTGTTCCTGGTGTGGCATTGCAGCTCTCCCGCTCCAAGTGCTAGGAAGAGGCTCTTTGGTGGCAGAGCCTTTCCCTGGGGACACTATCACCACGCGGGATGTCCTGCCAGCACACCCAGTCCTCTGTGGCCCACCGCGTCACCGCTGCCTGGCAGCACTGCACAGCAGCCTGACGGGCGGGCGCGGCCCCTTCCCAGAACAGCCTTGTCGTCCTCCTGCCTCTTGGGCCAAGGAGAGTAAGGTTTCAGCTCTTCTCTCTGTGAGGTGGCTGAAAGCAGGGCCCAGGGCCCACACCTCTCACCTCCAGCTGGCACCAGCGACTCCAGCCTCAGCAGATAGCCTTTGCTCAGTGGAGGCCTTTGGGAGCCTGCCTGCAAGCTGCGTCATCAACCAGCCTGAATTTAGACAAAGTGCTTTGGGGAAAAGAAACGTGTGGTGTGCCTTGTTTTTTTCCAGTAATTGTTCCATGGCTCGTTCTGCTTGTAAGATTTTCCAAAATAAGGCCGTAGATGAGAATTATATCAGCACATTGGGAACCGAAGGCATGCGGACACTGTTGGCGCTTTGTAAAAAACACCCCTCAATCAGACAGACACACGTCATCGTCGCCTGCTGGGGCTGGGCCCAGATTTCGAGATAGGGGAGCGGCACGTGCCCGTTTGGTACAGATGGGAGCCAGGAAGCCCTTTGCTCAGGATGGAGGTCTCCTCTATTAGGGGGCCTGTTACAGTAACTGGTGGGCCTCTGGGGTACCCTGCAATTGACTTTACATATTTAACTCTTTGCCATTGACTTTACATGTTTAACTCTTTAAAGTCGACTTCCTTCCCCCTCAAGAGAACTTAATTTACTCAAAGTCCTCCCTGGGTAGAGGAGTTTGGCCGGGTAGTTTCAGCAAGTTACTGGTACCGCTTCTAGGACAGCGTCTAACAGCATCTTTGGGAAGATGACTGTCACCAAAGCAGAAAAAGCTTTCTGACTTGTGTAACCCCCTGGAGATTTTTTAAGTCCCCCACCCCACCCCTTTCCCTATTTCTTACAGGAGACAGACTGTGACCAGTACCCCCTGCTGGATTGAGCTGCACCTGAATGGGCCTTTGCAGTGGCTTGACAAGGTCCTCACCCAGATGGGCTCCCCAAGCATCCGCTGTTCCAGTGTGTGTTAGAGACATCAAGTATGGTAGGGGAGGGCAGGCTTGGGGAAAATGGCCATGCAGGAGGTGGAGAAAATTGGAACTCTACTCAACCCATTGTTGTCAAGGAAGAAGAAATCTTTCTCCCTCAACTGAAGGGGTGCACCCACCTGTTTTCTGAAACACACGAGCAAACCCAGAGGTGGATGTTATGAACAGCTGTGTCTGCCAAACACATTTACCCTTTGGCCCCACTTTGAAGGGCAAGAAATGGCGTCTGCTCTGGTGGCTTAAGTGAGCAGAACAGGTAGTATTACACCACCGGCCCCCTCCCCCCAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACAGTCCAACCAGAAACACCCCTCTGTCTAGGACTGCAGTGTGGAGTTCACCTTGGAAGGGCGTTCTAGGTAGGAAGAGCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGACGCTTGTGACAGTGCCTCTTCCAGTGAACATTCCCAGCCCAGCCCCGCCCCGCCCCGCCCCACCACTCCAGCAGACCTTGCCCCTTGTGAGCTGGATAGACTTGGGATGGGGAGGGAGGGAGTTTTGTCTGTCTCCCTCCCCTCTCAGAACATACTGATTGGGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACAGCGGGAAAAATCGATGAGCGCCACCTCTTTAAAAACTCACTTACGTTTGTCCTTTTTCACTTTGAAAAGTTGGAAGGATCTGCTGAGGCCCAGTGCATATGCAATGTATAGTGTCTATTATCACATTAATCTCAAAGAGATTCGAATGACGGTAAGTGTTCTCATGAAGCAGGAGGCCCTTGTCGTGGGATGGCATTTGGTCTCAGGCAGCACCACACTGGGTGCGTCTCCAGTCATCTGTAAGAGCTTGCTCCAGATTCTGATGCATACGGCTATATTGGTTTATGTAGTCAGTTGCATTCATTAAATCAACTTTATCATATGCTCTTTTAAATGTTTGGTTTATATATTTTCTTTAAAAATCCTGGGCTGGCACATTGACTGGGAAACCTGAGTGAGACCCAGCAACTGCTTCTCTCCCTTCTCTCTCCTGAGGTGAAGCTTTTCCAGGTTTTGTTGAAGAGATACCTGCCAGCACTTCTGCAAGCTGAAATTTACAGAAGCAAATTCACCAGAAGGGAAACATCTCAGGCCAACATAGGCAAATGAAAAGGGCTATTAAAATATTTTTACACCTTTGAAAATTGCAGGCTTGGTACAAAGAGGTCTGTCATCTTCCCCCTGGGATATAAGATGATCTAGCTCCCGGTAGAGGATCACCGGTGACAACTATAGCAGTTGTATTGTGTAACAAGTACTGCTCCCAGCAGCAATTAGGGAGAAAACTAGTCTAAATTATTTCAACTGGAAAAAAGAAAAAAGAGTCCTCTTCTTTTCCCAGCCTTTTGCAGAACACAGTAGACAGAACTGCCACCTTCAATTGGTACTTTATTCTTTGCTGCTGTTTTTGTATAAAATGACCTATCCCACGTTTTTGCATGAATTTATAGCAGGAAAAATCAAGGGATTTCCTATGGAAGTCCTGCTTTATTCCAGGTGAAGGGAAGGAAGTGTATATACTTTTGGCAAGTCATACAGCTCAAATGTGATGAGATTTCTGATGTTAGAGGGAGATGGAGAGGCTTCCTGATGCCTCATCTGCAGGGTCCTGTGCCTCTGAAGTTCTAGCCATGAGGTTTCCAGGTAGGACAGCTGCTCCCCAAGCCTCCTGAGGACACAGGAAGAGACGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCTCGAAGGAGGGTTGACTCAGAACCCAGAGACAATACAAAACCCCTCACTTCCTCTGAGAGGGCCAAATGCTGTGAGTCTGAAGTATGTGCCTGGTGTGAAATGATCTATGGCCTGTTTCTTACACAGGAAGCCCCCTGAACCTCCTGTACATGTGTTCATGTTCCCAGCCAGCTCTGAGACCCAGGAACCAAATATTCCATTTTGGCTTCTGCTAGAGCAGTCATG
|
Task1_train_21639
|
A variant was discovered in gene CLN6 (CLN6 transmembrane ER protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
|
TGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAGCACCACACTAGCCTGGAGACAGAGGCACCTCCCGGGCTGAGGATGGAGGTCCACATGTTAAAAAAGAGAACAGCACCTGCAGGGGCCTCTTGGTGAAGCACTGCACCCACTCTCAGCACACAGCCCCACCCCCACCTCAGACACCTCACCCCAAAATACTACCCTCTCCCCTCTCCACACACCGGCTCCCTTTCTCCCACCTGTGCTTTCACCAGTATACCCGCCTGCCTCTTCTCACCCACACCCCCTTCCTGCTGGGGCTCCAGCTCTCTGTTCCTAGCCCCTCCACCCTTCCCCAACCTTCTGTGGGAAGAGGCTCTGGCAAAGGCCAGGGAAAGATGGCAGGAGGCCTGTCCAGGGACCCTGGACCAGCTGAGCCAGGAGGATTGACATCGCAGGGCCCGAAACACCCTGGAAATGCCCGTGCAGGGTGCGTGTGCTGTGAGCACCAACTCAGGAGTGAGCCGGGTCCAGGGCTGGCCCTCACCTCCCAGCTGCAGCCTTCGGAGCCCTCCTCCCTCTGGCCTCAGTTTCTCCTGGGTAAGATGGGAGGGTGGAACAGATGAAGCCTCCCAGCCTGGGCCCGGGATCTCCTGAGGCTGAGACCACATTTCTGAGGTCTCCCCCGACTGAGGGACGGGGTAGGTAGGAAAAGGTGCCCCTCTGGGAGTTCTGAAGAGGGGGGAGCGCAAACAGCACGCCCCTCCCCAGCCTGATCCAGCTGGCTCCCCGCAGCTTCCTCCACTCCCAAAGAGCAGGCCCGACACGGGTGGGGGTCCCTGGCTGTGCCCCCACCCCCTGCCATCACCATCTGGGGGTTGTTTATCAGGGACGCGTCCTCCTCCCCCACCCTCAGGGCTCAGGCTTGGCGAGGAAGGACCAAAGCCACTCGCTGCCCTCTGCTGGCCACAGCGGGCACTGAGGGCTGGGCGGGGGTGGCGATGCTGGGGGGATGCTGGCTGGAAGCCGGGGCCTGGAGCCTGGGACAGCAGCTGGGTCTCCCGGGCAACCTCGGGGACAACTTCACTGGAGGTTGAGCTCACAGTGCCTTTACAGGGGATGAGACTCAACACATGGAGACCCGCAGCCCAGACAGCCTTGCTCAGTGTGTCCCTGAGCCAGTGACAGGGCTAGCCGGTAGTTGGGGCCCCTGGGATAGACAGATGGGCCCATCACTCACCACATGCAGTGACCCAGGTACTCATCATAATAGTAGAGCAGCTCAAAGGAGTCGATCTGAGGGAGGAACGGGCAGGGCAGAGTCGGGGGATGTCGATGTCAGTCCAGGGAGGTGCTGGGGCCCCAAGCATCCCCTCTGACCACCCTTCTCCCAGTCCCAGGCCTCCCCCACTGCCTTATTCCCTACCCGGGGCCTCGCCTTCTGTTACAGGGGCCCAGGTGGGAGGCAGTCTGTGCACCACTTCCTAAGAACACTTGAGCATCCTAGCTTGGGGCAGGCGACAGTGCCCTCACCTAGCAGAATGCCTTTGGTGAAAGGACAGGTGCGGCGAGGGGTGGGGGCCATTTCTTCAGCCTCCCAGGACAGACTGTGCTCCTAGGGCTTACAGGCAGGGAGCAGGAGGTGGCCTCACCAGCGTCTCCGGCTTGAGATTCTTGATGATGGGGTTCTCACGGACAGACAGGTGGTGCTGGTAGCCACTGAAGAGCAGGCGGTGGTTGACAGAGTCACCCACCAGGTGGATGCTGGCACCCATGATGAAGATGATGATGCTCACGTACGTGATGGAGCGTGGCAGGGTGCGGGGGGACCGCTCGATGAGCTGGGGTTCAGAGTGGGGTTGGCAGCATGACCCCACCTCTGTCACAGTATGTGACACCCTCTGCTTCCCCCCTCACACCTGGGGTGGGATGGACGCTTCCAGCTGGAATGTCACTCCAAAAAGTGGCTGGTCCCTTTAGCAGGCCAGCCCAGCCTCCAGATCCTCCCGTGACCCCTATGAACCCCGGAGGGAATGTGGAGCAGCACCCCCCGCTGACTTTACCCAGGGAGCAAAAAGACCAGAGGGCCCAACTCCTTTCCCAAAGTCACACATGAGCTGTAGGCTGGAGGGGACAGCCCAGCCTTCAGTGCAGGAGTCCAGGCTCAGGCCCAGCCCTCCCACTGTCCCTGGCTGTGTCCCTGGGTGGCTGGCCCAGCCTGCTGAAGGCACCTTCTGATTTCTGAGTGGTCCCAGCAAACATGAAGAAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGG
|
TGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAGCACCACACTAGCCTGGAGACAGAGGCACCTCCCGGGCTGAGGATGGAGGTCCACATGTTAAAAAAGAGAACAGCACCTGCAGGGGCCTCTTGGTGAAGCACTGCACCCACTCTCAGCACACAGCCCCACCCCCACCTCAGACACCTCACCCCAAAATACTACCCTCTCCCCTCTCCACACACCGGCTCCCTTTCTCCCACCTGTGCTTTCACCAGTATACCCGCCTGCCTCTTCTCACCCACACCCCCTTCCTGCTGGGGCTCCAGCTCTCTGTTCCTAGCCCCTCCACCCTTCCCCAACCTTCTGTGGGAAGAGGCTCTGGCAAAGGCCAGGGAAAGATGGCAGGAGGCCTGTCCAGGGACCCTGGACCAGCTGAGCCAGGAGGATTGACATCGCAGGGCCCGAAACACCCTGGAAATGCCCGTGCAGGGTGCGTGTGCTGTGAGCACCAACTCAGGAGTGAGCCGGGTCCAGGGCTGGCCCTCACCTCCCAGCTGCAGCCTTCGGAGCCCTCCTCCCTCTGGCCTCAGTTTCTCCTGGGTAAGATGGGAGGGTGGAACAGATGAAGCCTCCCAGCCTGGGCCCGGGATCTCCTGAGGCTGAGACCACATTTCTGAGGTCTCCCCCGACTGAGGGACGGGGTAGGTAGGAAAAGGTGCCCCTCTGGGAGTTCTGAAGAGGGGGGAGCGCAAACAGCACGCCCCTCCCCAGCCTGATCCAGCTGGCTCCCCGCAGCTTCCTCCACTCCCAAAGAGCAGGCCCGACACGGGTGGGGGTCCCTGGCTGTGCCCCCACCCCCTGCCATCACCATCTGGGGGTTGTTTATCAGGGACGCGTCCTCCTCCCCCACCCTCAGGGCTCAGGCTTGGCGAGGAAGGACCAAAGCCACTCGCTGCCCTCTGCTGGCCACAGCGGGCACTGAGGGCTGGGCGGGGGTGGCGATGCTGGGGGGATGCTGGCTGGAAGCCGGGGCCTGGAGCCTGGGACAGCAGCTGGGTCTCCCGGGCAACCTCGGGGACAACTTCACTGGAGGTTGAGCTCACAGTGCCTTTACAGGGGATGAGACTCAACACATGGAGACCCGCAGCCCAGACAGCCTTGCTCAGTGTGTCCCTGAGCCAGTGACAGGGCTAGCCGGTAGTTGGGGCCCCTGGGATAGACAGATGGGCCCATCACTCACCACATGCAGTGACCCAGGTACTCATCATAATAGTAGAGCAGCTCAAAGGAGTCGATCTGAGGGAGGAACGGGCAGGGCAGAGTCGGGGGATGTCGATGTCAGTCCAGGGAGGTGCTGGGGCCCCAAGCATCCCCTCTGACCACCCTTCTCCCAGTCCCAGGCCTCCCCCACTGCCTTATTCCCTACCCGGGGCCTCGCCTTCTGTTACAGGGGCCCAGGTGGGAGGCAGTCTGTGCACCACTTCCTAAGAACACTTGAGCATCCTAGCTTGGGGCAGGCGACAGTGCCCTCACCTAGCAGAATGCCTTTGGTGAAAGGACAGGTGCGGCGAGGGGTGGGGGCCATTTCTTCAGCCTCCCAGGACAGACTGTGCTCCTAGGGCTTACAGGCAGGGAGCAGGAGGTGGCCTCACCAGCGTCTCCGGCTTGAGATTCTTGATGATGGGGTTCTCACGGACAGACAGGTGGTGCTGGTAGCCACTGAAGAGCAGGCGGTGGTTGACAGAGTCACCCACCAGGTGGATGCTGGCACCCATGATGAAGATGATGCTGCTCACGTACGTGATGGAGCGTGGCAGGGTGCGGGGGGACCGCTCGATGAGCTGGGGTTCAGAGTGGGGTTGGCAGCATGACCCCACCTCTGTCACAGTATGTGACACCCTCTGCTTCCCCCCTCACACCTGGGGTGGGATGGACGCTTCCAGCTGGAATGTCACTCCAAAAAGTGGCTGGTCCCTTTAGCAGGCCAGCCCAGCCTCCAGATCCTCCCGTGACCCCTATGAACCCCGGAGGGAATGTGGAGCAGCACCCCCCGCTGACTTTACCCAGGGAGCAAAAAGACCAGAGGGCCCAACTCCTTTCCCAAAGTCACACATGAGCTGTAGGCTGGAGGGGACAGCCCAGCCTTCAGTGCAGGAGTCCAGGCTCAGGCCCAGCCCTCCCACTGTCCCTGGCTGTGTCCCTGGGTGGCTGGCCCAGCCTGCTGAAGGCACCTTCTGATTTCTGAGTGGTCCCAGCAAACATGAAGAAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGG
|
Task1_train_21640
|
The gene CLN6 (CLN6 transmembrane ER protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
|
AAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTAGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCAGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGC
|
AAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTTGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCAGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGC
|
Task1_train_21641
|
This variant lies on Chromosome 15 and affects the gene CLN6 (CLN6 transmembrane ER protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
|
AAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTAGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCAGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGCCCCAACTCTTGGCTCAATTCCTCTTATTTTTCCACATTTAAAAGGCAACC
|
AAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTAGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCGGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGCCCCAACTCTTGGCTCAATTCCTCTTATTTTTCCACATTTAAAAGGCAACC
|
Task1_train_21642
|
This variant affects gene CLN6 (CLN6 transmembrane ER protein) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Ceroid lipofuscinosis, neuronal, 6A
|
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
|
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACTTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
|
Task1_train_21643
|
An alteration has been detected in CLN6 (CLN6 transmembrane ER protein) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Neuronal ceroid lipofuscinosis
|
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
|
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACTTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
|
Task1_train_21644
|
The variant affects gene CLN6 (CLN6 transmembrane ER protein), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
|
GAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGA
|
GAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCGTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGA
|
Task1_train_21645
|
A variant was discovered in gene CLN6 (CLN6 transmembrane ER protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
|
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
|
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCTATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
|
Task1_train_21646
|
This gene mutation involves CLN6 (CLN6 transmembrane ER protein) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Ceroid lipofuscinosis, neuronal, 6A
|
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
|
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCTATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
|
Task1_train_21647
|
Gene CLN6 (CLN6 transmembrane ER protein), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Neuronal ceroid lipofuscinosis
|
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
|
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCTATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
|
Task1_train_21648
|
Consider a variant on Chromosome 15 in gene KIF23 (kinesin family member 23). Determine its clinical classification and disease relevance.
|
Pathogenic; Congenital dyserythropoietic anemia, type III
|
AAATCTTAACTGAAAGCACTCAGAAGTATTTCACATTTCTTTAATCATTTTATTCATATGGTTCTTATTATACCTATGTTCTTAGGATTGTTTTCTGTTTTGTTTAGAAGCCTAGAAAATGTGTAGGGCTTTCATTGATCTTATTGAAGATTTTAACAGAGTTGTGGACATAATAGATTACCTCTCAATAGCAGGGATAAATATTGGTTTTTGATCAAGAATATGAAATGAGTTGTTTGTCCTGAACCACCCCCAAGCAGGAAAGACTTGCAGCATTACCAGAATTTTTTCTTTTATCCTTTATTGAAAGGGAAACTCCCAGATAGAATGTGTAACATACAAGTTGGTGTTAAAGATGTTTGTTGGTTTTGTGTTTAAATGCAAAGATCATGTTTAAATTACTTGAATAAAATATTTAGCTTTGGAAAGGTTTGCTATGATACTGTCATCAACTAATGTAGCCAAACCTGCTGCACTTCTAATAATACCCTTAAATTAATTCTGGGTTATGCTTGTTTCTCAGTTACTCTTTCAACCTGATCAGAACGCACCACCAATTCGTCTCCGACACAGACGATCACGCTCTGCAGGAGACAGATGGGTAGATCATAAGCCCGCCTCTAACATGCAAACTGAAACAGTCATGCAGCCACATGTCCCTCATGCCATCACAGTATCTGTTGCAAATGAAAAGGCACTAGCTAAGTGTGAGAAGTACATGCTGACCCACCAGGAACTAGCCTCCGATGGGGAGATTGAAACTAAACTAATTAAGGTAAAAAACTAATTTTCACAGGAGAAAAAAATATATTTAAAAATTCAACAAAAGTCCATTTGTCCTGCTACTCCTTTGGTGACACACAGGTAGTGTCAACTGGAACATCAGTAGGTATTTGATATAACCTTTTTGTTAGCAGAAAATTAGTCACTGCTTAGGTTTTAAGTCTGCCAAACTGGGACTAAGTATGCTTTAAATAGGTATAGATTCTTCGGTTTCTTAGAATTCTAGATCCATGATGTACTTTAATTTTTTAATGACTGTATATTTAGTTTTAACCACTACTTAAAGTAATCTAAGCAAAGAATTCCTATTGCTCTCCATCAGTTCAAGATAAAAAAACAAAAACAAAACAAAACGAAACCTATGTTAAAATTTGACCCGTCAAAATTACTCAGTATTGAGCTGCCTAAAGCCGTTTTCCAGAAAGAGACTTGCCTGACTATAGAAGAATTCCCCTTTGATCATAGGGTCAGTGAATAATCAGGAAAGTAAAAGATAAGACCAAAAAAAAAAAAAGCTTTTTATTTCAATTTCAATTTAGAGTTTTTGTTCTTATTATAATTAGCTACAAATAAGACTATACTGTCATTTGAATATGGGCAACAGGGGGCACTCAGAGAAGAAAGTACCATGCCTTAGAGCGTGTAGAAACTTCCAGCAAATTTCTTGATCCTTAGTGCAGTTTAGTTTTTAAATTACAGATGGAGCAAAAGGAATATTTTTTTCTGCAATTATGAATGTTACTGATTACATTGAATTGGACTTCTTTTATTTGTGAGAGATATGTACTCAAATTTCTAAATTATTTTGATAGTACGTACTCAGCAAGTACCAAGTACCATCTGATTTTGTGGATGGGAATTTCTATAAAATAGAATCATGAGAACAGTTTGAAATATATATGTGTGTTTTTCGTTTGGGTGTATCAATGTGTAACAGTGACCTTTTCTTTTGGCTTTAGGGTGATATTTATAAAACAAGGGGTGGTGGACAATCTGTTCAGTTTACTGATATTGAGACTTTAAAGCAAGAATCACCAAATGGGTAAGTAACCATCAAAAATCTCTGTATAAAAGTTGGTCATTTTCTTAGCTGCTCATTTTGGAGGAACAGAATAGCCTGTGAAATGTATCATTAATTCTCCAAAGGGATGTAGATAGTATTCCCCTACTTCTAATATTTTTCCTCTTCTTAGATGGAAAAATAATTGTTGCATCATGTTTCCCCTTTTTCAGTAGTCGAAAACGAAGATCTTCCACAGTAGCACCTGCCCAACCAGATGGTGCAGAGTCTGAATGGACCGATGTAGAAACAAGGGTAGGGGAAAAATTAAATATTTGTCTGCCTACTAAAATTAGGTTTGTCATGTTTTAAACCCCACAGCTCTAGATTTTTATGCTCTTTGAAAATGCTGAGGTATAATCTCACATTGCCAGTGCACCATGTAGGCCTATTCCTAGAATAACAAGAATCCACTTCATCAGGAACTCCCTTGCAAGTGTTATTCCTGAGGAGAATCTCTTGGAAAGAACATGGGAAGGTAGGGGTCAGGAGGCTAAGCTATGGCCTTAGCCACCAACTCTCTTTGCAAACTTATCTAAAATGAGATAAGTTACCTGGATGACCTAAAGACCTTTCTGGCTCACAACATTTGTGGCCTGTGCCAGAAATAAATTACGAGTGACTGGTGTTTTAACGTAAGAGTCTTTGCTGAACTAGAAAGCAATATTGCATTTCACCTAGGTGTGGAGCCTGCTAAATAACTGTGTTTTATAGACTATTGAGAGGAGCTGATCTTTTTCCTCTTGTCATTTTCCTCTCAGTGTTCTGTGGCTGTGGAGATGAGAGCAGGATCCCAGCTGGGACCTGGATATCAGCATCACGCACAACCCAAGTGAGTACTGACTGTAATTGGGGTCTTGCTGTGTGCTTTTTTCCTCCTCTGGTCTTTACATTATCACTCCTTCTACCAGCCATCCACTTATTCTTCAGAAGAAATATATGGTTTTGGTTTTCCCCTTGGACTATCTGGGCCTCCATGGGCAGACTGCAGTAGGCAGCTGGAATGCTGAGAGCCTCAGAAGGCTGGATAAGAGCAATCAGAGCTGCAAGGCAGGCGGTGGTGGAAGATTGGTGGCTCATGTTCATATTCTGCCAACGCTCATAAAGCTTTCTGAGGCTGAACTGAGAGTACCTCTAAGGAGGGAAGGCTAAAGGCTTAAGTTGGAGACTAGACAGCTTTGTGTAAATCATTGTTTCCTGACTTGCTTCTTGGTCTTGGTGTAGCAATAGGTGTTCACTAAAATAAATAACACTGAATGAAAGAATTTATAGTAGGGAAGGAATCATACCTTTTCTTCTTCTGTTAAACTTATACTCAGGAGTCTGACCCAGTCTTTTTCCATATTTTAATAAAATCCCTTCTTTACAAATACATACATATATGTATATCACATGTTATATACATATATGTATATAAAATGTTATATGTATATAACATTTTAAACATTTACATACCTTACTGAGCAATTTAGAAAATTGTTGCAGCAGGATAAAGATGGGAAATCCTTTCTAAATTTAATACTAAGATAAGCATATTTTATAAAAGTTGTTTGCTTTCTCAGAGGGACTTGAATTATCTCATCATAAAACAGCAGTTCTCAAAGGCCTCCTAAAGATTGATTTGCTATGAATGTGTTACTAATTGCAAAGTTCAACTCTAAGTGCTGGTTGTTATGTTTTAGGCGCAAAAAGCCATGAACTGACAGTCCCAGTACTGAAAGAACATTTTCATTTGTGTGGATGATTTCTCGAAAGCCATGCCAGAAGCAGTCTTCCAGGTCATCTTGTAGAACTCCAGCTTTGTTGAAAATCACGGACCTCAGCTACATCATACACTGACCCAGAGCAAAGCTTTCCCTATGGTTCCAAAGACAACTAGTATTCAACAAACCTTGTATAGTATATGTTTTGCCATATTTAATATTAATAGCAGAGGAAGACTCCTTTTTTCATCACTGTATGAATTTTTTATAATGTTTTTTTAAAATATATTTCATGTATACTTATAAACTAATTCACACAAGTGTTTGTCTTAGATGATTAAGGAAGACTATATCTAGATCATGTCTGATTTTTTATTGTGACTTCTCCAGCCCTGGTCTGAATTTCTTAAGGTTTTATAAACAAATGCTGCTATTTATTAGCTGCAAGAATGCACTTTAGAACTATTTGACAATTCAGACTTTCAAAATAAAGATGTAAATGACTGGCCAATAATAACCATTTTAGGAAGGTGTTTTGAATTCTGTATGT
|
AAATCTTAACTGAAAGCACTCAGAAGTATTTCACATTTCTTTAATCATTTTATTCATATGGTTCTTATTATACCTATGTTCTTAGGATTGTTTTCTGTTTTGTTTAGAAGCCTAGAAAATGTGTAGGGCTTTCATTGATCTTATTGAAGATTTTAACAGAGTTGTGGACATAATAGATTACCTCTCAATAGCAGGGATAAATATTGGTTTTTGATCAAGAATATGAAATGAGTTGTTTGTCCTGAACCACCCCCAAGCAGGAAAGACTTGCAGCATTACCAGAATTTTTTCTTTTATCCTTTATTGAAAGGGAAACTCCCAGATAGAATGTGTAACATACAAGTTGGTGTTAAAGATGTTTGTTGGTTTTGTGTTTAAATGCAAAGATCATGTTTAAATTACTTGAATAAAATATTTAGCTTTGGAAAGGTTTGCTATGATACTGTCATCAACTAATGTAGCCAAACCTGCTGCACTTCTAATAATACCCTTAAATTAATTCTGGGTTATGCTTGTTTCTCAGTTACTCTTTCAACCTGATCAGAACGCACCACCAATTCGTCTCCGACACAGACGATCACGCTCTGCAGGAGACAGATGGGTAGATCATAAGCCCGCCTCTAACATGCAAACTGAAACAGTCATGCAGCCACATGTCCCTCATGCCATCACAGTATCTGTTGCAAATGAAAAGGCACTAGCTAAGTGTGAGAAGTACATGCTGACCCACCAGGAACTAGCCTCCGATGGGGAGATTGAAACTAAACTAATTAAGGTAAAAAACTAATTTTCACAGGAGAAAAAAATATATTTAAAAATTCAACAAAAGTCCATTTGTCCTGCTACTCCTTTGGTGACACACAGGTAGTGTCAACTGGAACATCAGTAGGTATTTGATATAACCTTTTTGTTAGCAGAAAATTAGTCACTGCTTAGGTTTTAAGTCTGCCAAACTGGGACTAAGTATGCTTTAAATAGGTATAGATTCTTCGGTTTCTTAGAATTCTAGATCCATGATGTACTTTAATTTTTTAATGACTGTATATTTAGTTTTAACCACTACTTAAAGTAATCTAAGCAAAGAATTCCTATTGCTCTCCATCAGTTCAAGATAAAAAAACAAAAACAAAACAAAACGAAACCTATGTTAAAATTTGACCCGTCAAAATTACTCAGTATTGAGCTGCCTAAAGCCGTTTTCCAGAAAGAGACTTGCCTGACTATAGAAGAATTCCCCTTTGATCATAGGGTCAGTGAATAATCAGGAAAGTAAAAGATAAGACCAAAAAAAAAAAAAGCTTTTTATTTCAATTTCAATTTAGAGTTTTTGTTCTTATTATAATTAGCTACAAATAAGACTATACTGTCATTTGAATATGGGCAACAGGGGGCACTCAGAGAAGAAAGTACCATGCCTTAGAGCGTGTAGAAACTTCCAGCAAATTTCTTGATCCTTAGTGCAGTTTAGTTTTTAAATTACAGATGGAGCAAAAGGAATATTTTTTTCTGCAATTATGAATGTTACTGATTACATTGAATTGGACTTCTTTTATTTGTGAGAGATATGTACTCAAATTTCTAAATTATTTTGATAGTACGTACTCAGCAAGTACCAAGTACCATCTGATTTTGTGGATGGGAATTTCTATAAAATAGAATCATGAGAACAGTTTGAAATATATATGTGTGTTTTTCGTTTGGGTGTATCAATGTGTAACAGTGACCTTTTCTTTTGGCTTTAGGGTGATATTTATAAAACAAGGGGTGGTGGACAATCTGTTCAGTTTACTGATATTGAGACTTTAAAGCAAGAATCACCAAATGGGTAAGTAACCATCAAAAATCTCTGTATAAAAGTTGGTCATTTTCTTAGCTGCTCATTTTGGAGGAACAGAATAGCCTGTGAAATGTATCATTAATTCTCCAAAGGGATGTAGATAGTATTCCCCTACTTCTAATATTTTTCCTCTTCTTAGATGGAAAAATAATTGTTGCATCATGTTTCCCCTTTTTCAGTAGTCGAAAACGAAGATCTTCCACAGTAGCACGTGCCCAACCAGATGGTGCAGAGTCTGAATGGACCGATGTAGAAACAAGGGTAGGGGAAAAATTAAATATTTGTCTGCCTACTAAAATTAGGTTTGTCATGTTTTAAACCCCACAGCTCTAGATTTTTATGCTCTTTGAAAATGCTGAGGTATAATCTCACATTGCCAGTGCACCATGTAGGCCTATTCCTAGAATAACAAGAATCCACTTCATCAGGAACTCCCTTGCAAGTGTTATTCCTGAGGAGAATCTCTTGGAAAGAACATGGGAAGGTAGGGGTCAGGAGGCTAAGCTATGGCCTTAGCCACCAACTCTCTTTGCAAACTTATCTAAAATGAGATAAGTTACCTGGATGACCTAAAGACCTTTCTGGCTCACAACATTTGTGGCCTGTGCCAGAAATAAATTACGAGTGACTGGTGTTTTAACGTAAGAGTCTTTGCTGAACTAGAAAGCAATATTGCATTTCACCTAGGTGTGGAGCCTGCTAAATAACTGTGTTTTATAGACTATTGAGAGGAGCTGATCTTTTTCCTCTTGTCATTTTCCTCTCAGTGTTCTGTGGCTGTGGAGATGAGAGCAGGATCCCAGCTGGGACCTGGATATCAGCATCACGCACAACCCAAGTGAGTACTGACTGTAATTGGGGTCTTGCTGTGTGCTTTTTTCCTCCTCTGGTCTTTACATTATCACTCCTTCTACCAGCCATCCACTTATTCTTCAGAAGAAATATATGGTTTTGGTTTTCCCCTTGGACTATCTGGGCCTCCATGGGCAGACTGCAGTAGGCAGCTGGAATGCTGAGAGCCTCAGAAGGCTGGATAAGAGCAATCAGAGCTGCAAGGCAGGCGGTGGTGGAAGATTGGTGGCTCATGTTCATATTCTGCCAACGCTCATAAAGCTTTCTGAGGCTGAACTGAGAGTACCTCTAAGGAGGGAAGGCTAAAGGCTTAAGTTGGAGACTAGACAGCTTTGTGTAAATCATTGTTTCCTGACTTGCTTCTTGGTCTTGGTGTAGCAATAGGTGTTCACTAAAATAAATAACACTGAATGAAAGAATTTATAGTAGGGAAGGAATCATACCTTTTCTTCTTCTGTTAAACTTATACTCAGGAGTCTGACCCAGTCTTTTTCCATATTTTAATAAAATCCCTTCTTTACAAATACATACATATATGTATATCACATGTTATATACATATATGTATATAAAATGTTATATGTATATAACATTTTAAACATTTACATACCTTACTGAGCAATTTAGAAAATTGTTGCAGCAGGATAAAGATGGGAAATCCTTTCTAAATTTAATACTAAGATAAGCATATTTTATAAAAGTTGTTTGCTTTCTCAGAGGGACTTGAATTATCTCATCATAAAACAGCAGTTCTCAAAGGCCTCCTAAAGATTGATTTGCTATGAATGTGTTACTAATTGCAAAGTTCAACTCTAAGTGCTGGTTGTTATGTTTTAGGCGCAAAAAGCCATGAACTGACAGTCCCAGTACTGAAAGAACATTTTCATTTGTGTGGATGATTTCTCGAAAGCCATGCCAGAAGCAGTCTTCCAGGTCATCTTGTAGAACTCCAGCTTTGTTGAAAATCACGGACCTCAGCTACATCATACACTGACCCAGAGCAAAGCTTTCCCTATGGTTCCAAAGACAACTAGTATTCAACAAACCTTGTATAGTATATGTTTTGCCATATTTAATATTAATAGCAGAGGAAGACTCCTTTTTTCATCACTGTATGAATTTTTTATAATGTTTTTTTAAAATATATTTCATGTATACTTATAAACTAATTCACACAAGTGTTTGTCTTAGATGATTAAGGAAGACTATATCTAGATCATGTCTGATTTTTTATTGTGACTTCTCCAGCCCTGGTCTGAATTTCTTAAGGTTTTATAAACAAATGCTGCTATTTATTAGCTGCAAGAATGCACTTTAGAACTATTTGACAATTCAGACTTTCAAAATAAAGATGTAAATGACTGGCCAATAATAACCATTTTAGGAAGGTGTTTTGAATTCTGTATGT
|
Task1_train_21649
|
A mutation found in THSD4 (thrombospondin type 1 domain containing 4) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Aortic aneurysm, familial thoracic 12
|
CTGCTGCAGGGATGGTGGCCTCTCCAAGTCACCCAGCTGTTCACATCCTACTTGAACTCTGGCTCAGGCCAAAGGCATGTGAAAAGCATCTTAGTTAACTCAAAAGCCTTCATGGAGACAGCTGGTGTTGCTGGAAGCTTACATGGGCCCAGCTTTAGGGTTGCCAGCAGGTTGGCTTCCAGAGCCCTAGGAGACAGGCTTCTGTGGCCTGTCCGCCTCTCCCTGATTGTCAGAGCTCAGCCCACCCTGCTTGTTCACCCTGCCTGTTTTTTCCTACCAGTTTCCATCATTTTCTGCTTTAGGGGGCTTCTTGCTCCATATGGTTCGGCTCAGGCCACAGCAGGGTAATGACCACGCTGGGCATTTGTACCAGCAGCCTCCCCAACTGCGACTGTCCTTAATCAAGCAGGAGATGTTTACCCTCACACCTGTTTTCAGTCCTTCTTCTGGTCCCTCATCTTCCGGGAGACCTAATATTTCTGATACATACAGTAGATTTCTCTACAAATCCTTGAAGACTTTGAACTATCCTATTAGCAGTTTATTCCAGAGACTTCTACACAGTACTGTTTAATGTTTCAGGGGCCAGGCTCCTTTTCCTTCTGATTATTCACACACACACACACAAACACACACACACACATACACACTCTCTTAAACAGAGTATAGCTTGGGTTCAACAAAGCTAGATCATACTTTATCCACAATATGAATTAGAGATTCTGATCTTGTTATTTTCTGTCTCATACTTATTTACTTTATGCCACACTTTGCTCATATTTACCATTTATAAATGAGGAAGAGATAAGCCAGAGGGAGCAGTATGTTTTCCTTGAGTAGTCTAGTGCATCAGGATCACCTGGATAAACTTGATAAAATACAGATCTCTGGATCTTATCCCAGATTTACTGAATAATAATCCTTAAGGGAGGGATCCAGAAGTTTGCATTTCCAGAAAGATCTCTGGGTGATTGTTTTGCATGCAGAAGGTCGGAAATTCCTGCTTCATGTGGGACAGAATTTAGACTAGAATTTAGAGAAGATGGGGCGGACAATGAGAGACAGCCTGGTGGGAACCAGGCTGCTTGCATTTAAATCCAGGCCCCACACCTCACTGGCTGTGTGACTCCTCCATGCCTCAGTTTGCTCTCATGAAAAATCTGTAAAACTACAGTGTTTACCTTATTGGTTGTTGTGAAGATTAAATGAGTTCACATGTGGAACATGTTTAAAGTAGTGCCTGGCAAAGGTAAGGGCTCTGAACATGTCTGCCGTGGCTACTATTCCATGCAAGGGGAATGGCATGAACAAAGTCAAACAGAAGCAGATGGCCTCTTTGAGAGAATGGAGTAAACTGATTTGTCAGAAGTAGAAGGTTTAGATCAGTGGTTTTCAAATTATAGTGTGCAAAAAAATAACCTAGGGAGCTTGTTAAAAGTTTCTTGCCCCTATAACGATTCTGAGTTGGTATACATGAAGCCTGGGGATCTGCATTTAAACTTTTTGATGCAGGTTTTGAGCAAATGTTCAGAAACCCAGTAGTTTAGGTAGAAGAGGGCTGGTATTTAAAGTTGGAAAGGGGCCCGGCGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAGCCCATCGCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGGGCCACTGCACTCCAGCCTGGGCGACAAGGGTGAGACTCCATCTCAAAAAAAAAAAAATAAATAAATAAAGAATAAAAATAAAAAATAAATAAAGTTGGAAAGGTATCCAGGGTTTGGAAATGTATCCTGGAGCTATGAAAAGTATGGACACTAATTGCATATTTAATATCTGCTTTATTAGGTATGTCCAGAAAGCAGTAGAAGTATCCGGGAGGTACAGTGTGCATCCTACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAGGTAAGAATAGACCCAGCCCTGTCCATAGAAGTTACTTTAGTCTGTTTTCCATTCTTGTTGACTTCTGATTGATGTTGGAGGTATTGGTGTGATCCTGGCTGGGGTGTCAATAGGGGAGAAAGTGTGACTCCAGGGCAAAGAGAAGCCTGCATGGGTCTTTACCAAAGGTAGCATAGCTCAGGTGACGCCTGGACCATCTTCGGCATGAGTCAGATGGATGAGGCACTGATGGAAACAAGCAACATCCAAGGATGGCAGGGTGAGGGGGACAGAACAGGGTTCAAGGAATCAGTTGGAGAAGAGGTTCAAACATAAAGTTGTGAGCCGTGAGTGCAGATGGAGTTTCCCTTTCCTTGGTTCCTGCTACAAGGGGTAGTATGGGAGCTTAAGAGAACATGTGGGGTTGTACAGTTGTATGGTTCTCACCTGTAGGGGGCCTCACATGCTGATTCCAAAGATAATAGTAGGCAGGCATTGCCCGTGAGTACAAGATCCCCGTCATTTCCAGATGACAGAAGATCCAGAGTTGGTAGAGCAAGTTGATCCCACTCTGCATGCTGGAGTCACTTTTCTTTGTTGAAATCCAGATGATAACATGGCTTGCGGACTGAGAAGTTTTAACATTCTGAGATATTTCTACCCACCCCTGGAGAAAGTGGGCTCAGAAGAGGTGTTGGGTCAAGCAGAATTTGTGGGGGTTCTATGCTCACAGCCAAGTTGGCTGGAGAGGGAGTCCAGCTGCCTTCAGGGCCCAGTGGAAGAGCTCTGCCCAGCCAGCCCTTCTCAGCTTCAGCCCGAGGCAGTGGCTGGACAGCTAAGGTTGGCCAAGACCCAGAGTATGGAGCACTGCACAATGTGCAGGATCTGGAGAAATTGCCTTGGAAGAGGGATTGATAGTGAGTTGTGATGATTTTATTGCAGAATCAATGCCTGGGGAAGCCAAACTGTGCAAGGTGGTTCTATACTTAGAGGCCCTTGGGGAGGAGGGAAGTGGATTAGTATCTGACTGCTCTGAAATTGGATGCTAAATTGTTTTTATCTGTGCAGTGTTCTCAGAGACTCCATAGCTTCTATTAGATTCTCAGAGTGGTCCCATGACCTCAAAATTGTTAAGAACTAACTTGACTGAAAAATTGAGACTATCAAATTCAAGCAGGAAGGATGTACAGAGGAAACATAGAGCTAGCTGAGTGCACATACAACGGGTGGGGAACAGGGTGAAGGGTGAGCAAAAGAAGGATGCCAAAGTGAAATTTTGATTTGATTCTGTGGATAGAGCTTGGTTCTGACCTTTTTCATTTTTAAGGGCATTATGTTAAATTTAAGGTGGTATCCTGATTTGGATCCTGAAACAGAAAAAGGGCATTGTTGGAAAACCTAGTGAAATAGGCATAAATTGTATAGTTTAGTTAATAGTATTGTACCAGCGTTAATGTCTTAGTTTTTATAAATTGTTTGTTTTTTGTTTTTGTTTTGTTTTTGAGGTGGAGTCTTGCACTATTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCAACACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTTGCCATGATGGCCAGGCTGACCTCGAACTCCTGATCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGACGTGAGCCACCGCACCCAGCCTGTAAATGGTTTTGTAACATGTTAACATTATGCGAAGCTGGGTAAAGAAAGGGTATACAGGAACTTTTGTACTATCTTTGTAACTTTCCTGTAAATCTAAAATGATTTCAAAATAAAACGTCTTGAAGGCATTGTACTCCCAATTAGCTATGTCTTACATGGATTCTGGTGAAGACAAAGTGTAATACTCACTTAATATGGGTGAGGAAGAGTGCACTGGGTTAAATACT
|
CTGCTGCAGGGATGGTGGCCTCTCCAAGTCACCCAGCTGTTCACATCCTACTTGAACTCTGGCTCAGGCCAAAGGCATGTGAAAAGCATCTTAGTTAACTCAAAAGCCTTCATGGAGACAGCTGGTGTTGCTGGAAGCTTACATGGGCCCAGCTTTAGGGTTGCCAGCAGGTTGGCTTCCAGAGCCCTAGGAGACAGGCTTCTGTGGCCTGTCCGCCTCTCCCTGATTGTCAGAGCTCAGCCCACCCTGCTTGTTCACCCTGCCTGTTTTTTCCTACCAGTTTCCATCATTTTCTGCTTTAGGGGGCTTCTTGCTCCATATGGTTCGGCTCAGGCCACAGCAGGGTAATGACCACGCTGGGCATTTGTACCAGCAGCCTCCCCAACTGCGACTGTCCTTAATCAAGCAGGAGATGTTTACCCTCACACCTGTTTTCAGTCCTTCTTCTGGTCCCTCATCTTCCGGGAGACCTAATATTTCTGATACATACAGTAGATTTCTCTACAAATCCTTGAAGACTTTGAACTATCCTATTAGCAGTTTATTCCAGAGACTTCTACACAGTACTGTTTAATGTTTCAGGGGCCAGGCTCCTTTTCCTTCTGATTATTCACACACACACACACAAACACACACACACACATACACACTCTCTTAAACAGAGTATAGCTTGGGTTCAACAAAGCTAGATCATACTTTATCCACAATATGAATTAGAGATTCTGATCTTGTTATTTTCTGTCTCATACTTATTTACTTTATGCCACACTTTGCTCATATTTACCATTTATAAATGAGGAAGAGATAAGCCAGAGGGAGCAGTATGTTTTCCTTGAGTAGTCTAGTGCATCAGGATCACCTGGATAAACTTGATAAAATACAGATCTCTGGATCTTATCCCAGATTTACTGAATAATAATCCTTAAGGGAGGGATCCAGAAGTTTGCATTTCCAGAAAGATCTCTGGGTGATTGTTTTGCATGCAGAAGGTCGGAAATTCCTGCTTCATGTGGGACAGAATTTAGACTAGAATTTAGAGAAGATGGGGCGGACAATGAGAGACAGCCTGGTGGGAACCAGGCTGCTTGCATTTAAATCCAGGCCCCACACCTCACTGGCTGTGTGACTCCTCCATGCCTCAGTTTGCTCTCATGAAAAATCTGTAAAACTACAGTGTTTACCTTATTGGTTGTTGTGAAGATTAAATGAGTTCACATGTGGAACATGTTTAAAGTAGTGCCTGGCAAAGGTAAGGGCTCTGAACATGTCTGCCGTGGCTACTATTCCATGCAAGGGGAATGGCATGAACAAAGTCAAACAGAAGCAGATGGCCTCTTTGAGAGAATGGAGTAAACTGATTTGTCAGAAGTAGAAGGTTTAGATCAGTGGTTTTCAAATTATAGTGTGCAAAAAAATAACCTAGGGAGCTTGTTAAAAGTTTCTTGCCCCTATAACGATTCTGAGTTGGTATACATGAAGCCTGGGGATCTGCATTTAAACTTTTTGATGCAGGTTTTGAGCAAATGTTCAGAAACCCAGTAGTTTAGGTAGAAGAGGGCTGGTATTTAAAGTTGGAAAGGGGCCCGGCGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAGCCCATCGCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGGGCCACTGCACTCCAGCCTGGGCGACAAGGGTGAGACTCCATCTCAAAAAAAAAAAAATAAATAAATAAAGAATAAAAATAAAAAATAAATAAAGTTGGAAAGGTATCCAGGGTTTGGAAATGTATCCTGGAGCTATGAAAAGTATGGACACTAATTGCATATTTAATATCTGCTTTATTAGGTATGTCCAGAAAGCAGTAGAAGTATCCGGGAGGTACAGTGTGCATCCAACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAGGTAAGAATAGACCCAGCCCTGTCCATAGAAGTTACTTTAGTCTGTTTTCCATTCTTGTTGACTTCTGATTGATGTTGGAGGTATTGGTGTGATCCTGGCTGGGGTGTCAATAGGGGAGAAAGTGTGACTCCAGGGCAAAGAGAAGCCTGCATGGGTCTTTACCAAAGGTAGCATAGCTCAGGTGACGCCTGGACCATCTTCGGCATGAGTCAGATGGATGAGGCACTGATGGAAACAAGCAACATCCAAGGATGGCAGGGTGAGGGGGACAGAACAGGGTTCAAGGAATCAGTTGGAGAAGAGGTTCAAACATAAAGTTGTGAGCCGTGAGTGCAGATGGAGTTTCCCTTTCCTTGGTTCCTGCTACAAGGGGTAGTATGGGAGCTTAAGAGAACATGTGGGGTTGTACAGTTGTATGGTTCTCACCTGTAGGGGGCCTCACATGCTGATTCCAAAGATAATAGTAGGCAGGCATTGCCCGTGAGTACAAGATCCCCGTCATTTCCAGATGACAGAAGATCCAGAGTTGGTAGAGCAAGTTGATCCCACTCTGCATGCTGGAGTCACTTTTCTTTGTTGAAATCCAGATGATAACATGGCTTGCGGACTGAGAAGTTTTAACATTCTGAGATATTTCTACCCACCCCTGGAGAAAGTGGGCTCAGAAGAGGTGTTGGGTCAAGCAGAATTTGTGGGGGTTCTATGCTCACAGCCAAGTTGGCTGGAGAGGGAGTCCAGCTGCCTTCAGGGCCCAGTGGAAGAGCTCTGCCCAGCCAGCCCTTCTCAGCTTCAGCCCGAGGCAGTGGCTGGACAGCTAAGGTTGGCCAAGACCCAGAGTATGGAGCACTGCACAATGTGCAGGATCTGGAGAAATTGCCTTGGAAGAGGGATTGATAGTGAGTTGTGATGATTTTATTGCAGAATCAATGCCTGGGGAAGCCAAACTGTGCAAGGTGGTTCTATACTTAGAGGCCCTTGGGGAGGAGGGAAGTGGATTAGTATCTGACTGCTCTGAAATTGGATGCTAAATTGTTTTTATCTGTGCAGTGTTCTCAGAGACTCCATAGCTTCTATTAGATTCTCAGAGTGGTCCCATGACCTCAAAATTGTTAAGAACTAACTTGACTGAAAAATTGAGACTATCAAATTCAAGCAGGAAGGATGTACAGAGGAAACATAGAGCTAGCTGAGTGCACATACAACGGGTGGGGAACAGGGTGAAGGGTGAGCAAAAGAAGGATGCCAAAGTGAAATTTTGATTTGATTCTGTGGATAGAGCTTGGTTCTGACCTTTTTCATTTTTAAGGGCATTATGTTAAATTTAAGGTGGTATCCTGATTTGGATCCTGAAACAGAAAAAGGGCATTGTTGGAAAACCTAGTGAAATAGGCATAAATTGTATAGTTTAGTTAATAGTATTGTACCAGCGTTAATGTCTTAGTTTTTATAAATTGTTTGTTTTTTGTTTTTGTTTTGTTTTTGAGGTGGAGTCTTGCACTATTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCAACACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTTGCCATGATGGCCAGGCTGACCTCGAACTCCTGATCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGACGTGAGCCACCGCACCCAGCCTGTAAATGGTTTTGTAACATGTTAACATTATGCGAAGCTGGGTAAAGAAAGGGTATACAGGAACTTTTGTACTATCTTTGTAACTTTCCTGTAAATCTAAAATGATTTCAAAATAAAACGTCTTGAAGGCATTGTACTCCCAATTAGCTATGTCTTACATGGATTCTGGTGAAGACAAAGTGTAATACTCACTTAATATGGGTGAGGAAGAGTGCACTGGGTTAAATACT
|
Task1_train_21650
|
Given this context: Chromosome 15, gene THSD4 (thrombospondin type 1 domain containing 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Aortic aneurysm, familial thoracic 12
|
GCAGCCTCAATCTCCCAGGCTCAAGCCATCCCCTGACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAACTTTGGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCCAGCCTAGGCTGACTTTCAAGCAATGCTCTAGTAAGAAACTCTACCCATAGTGATTCTGATGATTCTGTGTACGCTGCTGCGGGCTCACGCTGACTTCCTGTTGACTGAAGGTTGTCTCTCACTCTCGCTCTCTCATTCCTGAACCAGCTGGGACATCGGGGAGTGGTCTGAGTGCAGCAAGACCTGTGGCCTGGGCATGCAGCACCGCCAGGTTCTGTGCCGCCAGGTGTACGCCAACCGCAGCCTGACGGTGCAGCCCTACCGCTGCCAGCACCTGGAGAAACCTGAGACCACCAGCACCTGCCAACTCAAGATCTGCAGCGAGTGGCAGATCCGGACCGACTGGACCTCGGTACGCAGGCAGGGCAGCCCGCTCTGCAGCTCCCTCTCCAGCTCCCACCACACTTTCCAGCCTCCCCCACCAAGACCTGAGATGGGTAACCCTGAGTTCCACAGGAGGGAACCCGTCCCGTGGGGGTCTGGACGGCTGTTTTTGCAAACCACAGGATGTACCAATAGTTCAATAGAGTTCAGGGTAGTGTGTGCCACCCACAGCCAACTTTATGAGTGAGCCCAGGGGGAGCCCTCTGATACTGGCCTCATCTGCTTTGTGAGTCATGGTGAAGTGAAGGTTGGCAACTGCTGGTAGAGCCAACTCCTTCCAATTTTCCCTACCCATTTTATAGCTGAAAAGACTGAGGCCTGGAAGAATAGAGTAGTGTCAGTCAAAATTAAGGCTGTTAAGGCAGAAATAATTTGATAAAAGATTTATTGGAAGCCAATGTAAGGATCAGCCCAAGAAGACACACGAACAACGTTGGACATGTTCCAAAGTCTGTTACAAGTTGAAAGGCTTTTAGAAGAAAGTTTAGGAGAGGAGACGGGGACCCCTTGAATCGGAGTTGTCTTTTTCATTGGAGGGTACAGCACAGAGGTTGCAATCACTGGCTACAGATGACGACATACAGGCTAAAATGTTTTAAGTGCAAGACAGTCAATAAAACTTCATGAGTCAGAAATAAATCAGCAAAACTTTATGACTCAGAAACAAACCAAACAAACCAGTGTCCTCTTCAATGTCCACAGGTTACGTATTAATCAGTATGTCAACAGTTTGAAGAATTCACAATAAGATTTGAGGAACTGACAATAATATTCTTTACTCTAAACAGGATGTAAGCCATGAATCCTAAGACCTTCTTCCCAGGCAACTTAGAACATAGTTTATTCTTCAAGGGCAGAGGTGCATGACTTAACCCCTTGCCTGCCATGGCGTTGGGTCCTGTTTATAATTTGGTATCTTATTGCCACAGAGAGTCCATTCTGTCAGTCTTATGATTTCTCCCTTAACATCAGTGCTGGTCGGTTGTGTCTAGACTGCAAAACGGAGGTGGTATGACAGGGTGTGTCCAACCTTCCATCCTGTCATGGCCAGGAAATCCATTTTTAAGGTTTCTCTGGGGGTCTCCTTGGCCAAGAGGAGGCCCATTCAGTCAGCTGGGAGGCTTAGGATTTTATTTTTAGTTTACAGTAGGCGAGGCATCTAAGAAGGTCTTGTAGAAAAGGGTTGTGGAGTTTTCTAGGGCTCAGATCCCTGCCCCAGCTGGTGACATGCATGACAGAGCCTCAGTCTCATGGGGCTGATCACAAAGGCTGCGGGCTCCATACTGGCAATTCTCTCCCAGAGCTGAAGCTGCTGGTTCCCCTGACGTCAGTGTGCTGTGTTTCAGTGCTCGGTGCCCTGCGGCGTGGGACAGAGGACCCGTGATGTGAAGTGTGTGAGCAACATTGGGGATGTGGTTGACGATGAGGAATGCAACATGAAGCTCCGGCCGAATGACATTGAGAACTGCGACATGGGACCCTGTGCCAAGAGCTGGTTCCTCACCGAGTGGAGCGAAAGGGTGAGTGTGATGGCGGGCAGAGCGCCGGGGACCGAGGTCTGCCAGGTGCCTCCAAAACCACACAAAGATGAGTCACTAGCTCAGAATCCCAAGACTGATTTCTGGCTCTGGGGGGAAAAAAAAGGCCCAGAGAGGAATTATCGTAGGCTTTCTATCCTTATGTGAGGACTGAGGGTCTCCAAAGGTGAGGAGGGTGTATGCAAAACTTGATTGAATTCTCCTTAGCACTCCATGTGGTCACTCCATAATACTAGGTGAAGTGAATCATTACATCCCATCGTTCATATGTCTTGTAAGTGCCTGGTGTCTCATAGACACTCAGCAATGGCAGGCCCCTCTACTGCTTTTTGCCAACTCAAAACATCCCACACCCCGTTCCCTCCCCAGTAGCCTGGCCTCCCATGGGAAGTCTCAGGTGTCAAAGAATAACTCAAAGGCATATATAGTCAACCATTAGCCCACCAGTTACCTGGATATAAGGGAAAACAGTCATATATTAAATTCATCCATCAAAGGCAAAAGGAGGATTTATATGAAAAGGGGTTTCTGCAGATGGAGTGATGTTGGTTACACAACAGCATGAATGCACCTAATGCCCTGGAGGTGTGGGCTTAAAAGTGGTTACGATGGTCAATTTCATGCTATGTGTATTCTACCACAATCAAAAATGAAGTTTGAGAAAAGACACTAAACAAATTGTAGAACATACCTTGGGACAGGGAGAAGAAAAGAGGAAGGAGATAAGGAATTGTGCTTCCTTTCCTGGTGGGATCGGCGCATTGGCGGGCATGGGATGGCCAGTCAGAGGGTTTGCCCAGGGCAGCTGCACAGCTGTGAGAGGCACCAAGTCCAGATTCTGGATTCTCTAGGAGATCTAGGGAGTTTACCTGGGATGAGGACATGATTGGCTATCTCTGACCTTGGTTAGCGGCCTACCTCTCGGATACACTAGTTCTGCCCCACTTCCCTTGCTAGAATCCCGTGCGTACACGTTACCTGTGAACCGCATTAAAGTGTAGGTCTGAGGCAGCAGGTGTGGGGAGGAGCCAGGGATTCTACATTTATTTTCTTTCTTTTTTTTAATATTTTTATATTTTTAAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACCGGGTCTCATTCTATTGCCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGACCTGCTGGGATCAAGCAATCCTCCTGCCTCAGCACCCCCTGCCCCCCTCCCGCCAACGTAGGTGGGACTATAGGTGCGCGCCACCACCCCGGCTAATTTTTTGTATTTGTTTGTGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCACCTCGGCCTCCCGAAGCCCTGGAATTGTAGGCATGAGCCACTGTGCCTGGCCACAGCCTACATTTCTAATAGGTTCCCAGGGTCTCTGAGGCCACTGGTCCAAGGACCACACTCTGAATAACAAGGCCATAAAAAAGACAGAGGAGCCCAGCCATGTTCTTGGATCTTAGGAGACACGATGCAGCCCATGAGCCCCCACCCCGTCCCCACTCCCAGCATCATGAGAACAACAACCATAGTATCTCAGACTCAAAGAAGGACCCTTTCACGCAGTTTGGGGATATCAGCAGACATGCCCCATACGGCCACATTGGCTGACTCCAACTGGTCAGTGTCCATTCTGACCGGTCAATGGCCACCATGCACCTGTTATTGAGTATTTTGAATATCACCCCTAGAGGTGTTCACATAGGTTTTCTCTCCCTCTGCGGTGTAAGATGCCCCTTCATTTTGTCCCTCTATCACCATAACAATCCACTTCCACAGGGAGTGTTATCCAGAAAGAGAGGAAGGACAAACCTGCAAATGCAGCCTTCACTCCACCTCCAGAGATGGTCCTGGAGATTCTTACCTAGCGGCTCATCTTCTTGT
|
GCAGCCTCAATCTCCCAGGCTCAAGCCATCCCCTGACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAACTTTGGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCCAGCCTAGGCTGACTTTCAAGCAATGCTCTAGTAAGAAACTCTACCCATAGTGATTCTGATGATTCTGTGTACGCTGCTGCGGGCTCACGCTGACTTCCTGTTGACTGAAGGTTGTCTCTCACTCTCGCTCTCTCATTCCTGAACCAGCTGGGACATCGGGGAGTGGTCTGAGTGCAGCAAGACCTGTGGCCTGGGCATGCAGCACCGCCAGGTTCTGTGCCGCCAGGTGTACGCCAACCGCAGCCTGACGGTGCAGCCCTACCGCTGCCAGCACCTGGAGAAACCTGAGACCACCAGCACCTGCCAACTCAAGATCTGCAGCGAGTGGCAGATCCGGACCGACTGGACCTCGGTACGCAGGCAGGGCAGCCCGCTCTGCAGCTCCCTCTCCAGCTCCCACCACACTTTCCAGCCTCCCCCACCAAGACCTGAGATGGGTAACCCTGAGTTCCACAGGAGGGAACCCGTCCCGTGGGGGTCTGGACGGCTGTTTTTGCAAACCACAGGATGTACCAATAGTTCAATAGAGTTCAGGGTAGTGTGTGCCACCCACAGCCAACTTTATGAGTGAGCCCAGGGGGAGCCCTCTGATACTGGCCTCATCTGCTTTGTGAGTCATGGTGAAGTGAAGGTTGGCAACTGCTGGTAGAGCCAACTCCTTCCAATTTTCCCTACCCATTTTATAGCTGAAAAGACTGAGGCCTGGAAGAATAGAGTAGTGTCAGTCAAAATTAAGGCTGTTAAGGCAGAAATAATTTGATAAAAGATTTATTGGAAGCCAATGTAAGGATCAGCCCAAGAAGACACACGAACAACGTTGGACATGTTCCAAAGTCTGTTACAAGTTGAAAGGCTTTTAGAAGAAAGTTTAGGAGAGGAGACGGGGACCCCTTGAATCGGAGTTGTCTTTTTCATTGGAGGGTACAGCACAGAGGTTGCAATCACTGGCTACAGATGACGACATACAGGCTAAAATGTTTTAAGTGCAAGACAGTCAATAAAACTTCATGAGTCAGAAATAAATCAGCAAAACTTTATGACTCAGAAACAAACCAAACAAACCAGTGTCCTCTTCAATGTCCACAGGTTACGTATTAATCAGTATGTCAACAGTTTGAAGAATTCACAATAAGATTTGAGGAACTGACAATAATATTCTTTACTCTAAACAGGATGTAAGCCATGAATCCTAAGACCTTCTTCCCAGGCAACTTAGAACATAGTTTATTCTTCAAGGGCAGAGGTGCATGACTTAACCCCTTGCCTGCCATGGCGTTGGGTCCTGTTTATAATTTGGTATCTTATTGCCACAGAGAGTCCATTCTGTCAGTCTTATGATTTCTCCCTTAACATCAGTGCTGGTCGGTTGTGTCTAGACTGCAAAACGGAGGTGGTATGACAGGGTGTGTCCAACCTTCCATCCTGTCATGGCCAGGAAATCCATTTTTAAGGTTTCTCTGGGGGTCTCCTTGGCCAAGAGGAGGCCCATTCAGTCAGCTGGGAGGCTTAGGATTTTATTTTTAGTTTACAGTAGGCGAGGCATCTAAGAAGGTCTTGTAGAAAAGGGTTGTGGAGTTTTCTAGGGCTCAGATCCCTGCCCCAGCTGGTGACATGCATGACAGAGCCTCAGTCTCATGGGGCTGATCACAAAGGCTGCGGGCTCCATACTGGCAATTCTCTCCCAGAGCTGAAGCTGCTGGTTCCCCTGACGTCAGTGTGCTGTGTTTCAGTGCTCGGTGCCCTGCGGCGTGGGACAGAGGACCCGTGATGTGAAGTGTGTGAGCAACATTGGGGATGTGGTTGACGATGAGGAATGCAACATGAAGCTCTGGCCGAATGACATTGAGAACTGCGACATGGGACCCTGTGCCAAGAGCTGGTTCCTCACCGAGTGGAGCGAAAGGGTGAGTGTGATGGCGGGCAGAGCGCCGGGGACCGAGGTCTGCCAGGTGCCTCCAAAACCACACAAAGATGAGTCACTAGCTCAGAATCCCAAGACTGATTTCTGGCTCTGGGGGGAAAAAAAAGGCCCAGAGAGGAATTATCGTAGGCTTTCTATCCTTATGTGAGGACTGAGGGTCTCCAAAGGTGAGGAGGGTGTATGCAAAACTTGATTGAATTCTCCTTAGCACTCCATGTGGTCACTCCATAATACTAGGTGAAGTGAATCATTACATCCCATCGTTCATATGTCTTGTAAGTGCCTGGTGTCTCATAGACACTCAGCAATGGCAGGCCCCTCTACTGCTTTTTGCCAACTCAAAACATCCCACACCCCGTTCCCTCCCCAGTAGCCTGGCCTCCCATGGGAAGTCTCAGGTGTCAAAGAATAACTCAAAGGCATATATAGTCAACCATTAGCCCACCAGTTACCTGGATATAAGGGAAAACAGTCATATATTAAATTCATCCATCAAAGGCAAAAGGAGGATTTATATGAAAAGGGGTTTCTGCAGATGGAGTGATGTTGGTTACACAACAGCATGAATGCACCTAATGCCCTGGAGGTGTGGGCTTAAAAGTGGTTACGATGGTCAATTTCATGCTATGTGTATTCTACCACAATCAAAAATGAAGTTTGAGAAAAGACACTAAACAAATTGTAGAACATACCTTGGGACAGGGAGAAGAAAAGAGGAAGGAGATAAGGAATTGTGCTTCCTTTCCTGGTGGGATCGGCGCATTGGCGGGCATGGGATGGCCAGTCAGAGGGTTTGCCCAGGGCAGCTGCACAGCTGTGAGAGGCACCAAGTCCAGATTCTGGATTCTCTAGGAGATCTAGGGAGTTTACCTGGGATGAGGACATGATTGGCTATCTCTGACCTTGGTTAGCGGCCTACCTCTCGGATACACTAGTTCTGCCCCACTTCCCTTGCTAGAATCCCGTGCGTACACGTTACCTGTGAACCGCATTAAAGTGTAGGTCTGAGGCAGCAGGTGTGGGGAGGAGCCAGGGATTCTACATTTATTTTCTTTCTTTTTTTTAATATTTTTATATTTTTAAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACCGGGTCTCATTCTATTGCCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGACCTGCTGGGATCAAGCAATCCTCCTGCCTCAGCACCCCCTGCCCCCCTCCCGCCAACGTAGGTGGGACTATAGGTGCGCGCCACCACCCCGGCTAATTTTTTGTATTTGTTTGTGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCACCTCGGCCTCCCGAAGCCCTGGAATTGTAGGCATGAGCCACTGTGCCTGGCCACAGCCTACATTTCTAATAGGTTCCCAGGGTCTCTGAGGCCACTGGTCCAAGGACCACACTCTGAATAACAAGGCCATAAAAAAGACAGAGGAGCCCAGCCATGTTCTTGGATCTTAGGAGACACGATGCAGCCCATGAGCCCCCACCCCGTCCCCACTCCCAGCATCATGAGAACAACAACCATAGTATCTCAGACTCAAAGAAGGACCCTTTCACGCAGTTTGGGGATATCAGCAGACATGCCCCATACGGCCACATTGGCTGACTCCAACTGGTCAGTGTCCATTCTGACCGGTCAATGGCCACCATGCACCTGTTATTGAGTATTTTGAATATCACCCCTAGAGGTGTTCACATAGGTTTTCTCTCCCTCTGCGGTGTAAGATGCCCCTTCATTTTGTCCCTCTATCACCATAACAATCCACTTCCACAGGGAGTGTTATCCAGAAAGAGAGGAAGGACAAACCTGCAAATGCAGCCTTCACTCCACCTCCAGAGATGGTCCTGGAGATTCTTACCTAGCGGCTCATCTTCTTGT
|
Task1_train_21651
|
A mutation in NR2E3 (nuclear receptor subfamily 2 group E member 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Retinal dystrophy
|
GGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCA
|
GGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCCGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCA
|
Task1_train_21652
|
Here is a genetic alteration in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Retinitis pigmentosa
|
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
|
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTATGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
|
Task1_train_21653
|
This variant affects the gene NR2E3 (nuclear receptor subfamily 2 group E member 3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Retinal dystrophy
|
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
|
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTATGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
|
Task1_train_21654
|
A genetic alteration is present in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Enhanced S-cone syndrome
|
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
|
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTATGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
|
Task1_train_21655
|
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Retinitis pigmentosa 37
|
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
|
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGTGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
|
Task1_train_21656
|
Here is a variant affecting NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Enhanced S-cone syndrome
|
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
|
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGTGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
|
Task1_train_21657
|
With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Retinal dystrophy
|
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
|
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCACAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
|
Task1_train_21658
|
With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Retinitis pigmentosa
|
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
|
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCACAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
|
Task1_train_21659
|
Here is a variant affecting NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Enhanced S-cone syndrome
|
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
|
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCACAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
|
Task1_train_21660
|
Consider a variant on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3). Determine its clinical classification and disease relevance.
|
Pathogenic; Enhanced S-cone syndrome
|
GTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCC
|
GTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCTGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCC
|
Task1_train_21661
|
This sequence change occurs on Chromosome 15, altering NR2E3 (nuclear receptor subfamily 2 group E member 3). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Retinal dystrophy
|
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
|
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCAGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
|
Task1_train_21662
|
Given this variant in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Enhanced S-cone syndrome
|
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
|
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCAGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
|
Task1_train_21663
|
This alteration occurs within gene NR2E3 (nuclear receptor subfamily 2 group E member 3) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Retinitis pigmentosa 37
|
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
|
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCAGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
|
Task1_train_21664
|
The following genetic variant occurs in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Retinitis pigmentosa
|
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
|
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCGAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
|
Task1_train_21665
|
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Retinal dystrophy
|
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
|
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCGAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
|
Task1_train_21666
|
A variant on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Enhanced S-cone syndrome
|
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
|
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTGGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
|
Task1_train_21667
|
A genetic alteration is present in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Retinitis pigmentosa
|
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
|
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTGGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
|
Task1_train_21668
|
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
|
TATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAG
|
TATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGAACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAG
|
Task1_train_21669
|
This variant affects the gene NR2E3 (nuclear receptor subfamily 2 group E member 3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Retinitis pigmentosa
|
GTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAA
|
GTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCACGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAA
|
Task1_train_21670
|
With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Retinitis pigmentosa
|
CATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAG
|
CATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCACGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAG
|
Task1_train_21671
|
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; not provided
|
GAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAGAGGAGCATGGGACTGCCCAATGTGGAGTAGCCTCCTTGATGCTGGGTGTTGACCCTGGCCATCAGACCTACCCAGGGAAGGTTTAGTTCCCCCATCTGTCTCTTGGGGCTTCACCATCCGTCTTTTGTGTTGCGGACTCCTGTCTTAGCAAATACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCACCCAGGCTGGAGCGCAGTGGCGTGATCTCGGTTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGTTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCTCAGCCAGCAAATAGTTCTTATTTAAAACAATAAATATTTTTTTCAATGACTATCTCAGTCACCAAAATTATCCTTCAACTTCAGGACATTTTCAGTAATGGCTATCATCATCCTAGGTGGTATACAGACAGGAATTTGTATTCTTACAAACAATTCTTATCTACTAAAAACTAATCATATAATTATAATACTTATATATGAGATTAATAATAATATTTTCATATACAGGTGCTCCTTGACTTATGATGGGGTTACATCTGGATAAACCCATTGTTAAGTTGAAGCTACTGTAAGTTGAAGATGAATTTTCATACATAACCCATCTTAAGTCAAGGAGCATACTGAATGCTTATCACTTTCACACCATGATAAAGTCGAACCATCTGTATAGAGTTAATATAAACTTCACTTTATAATCTTTACATATAATAAACAATATTTACTCATTATTTTCATTGCACTCCTAAACTAAATAGAGGGTGGCGGCTCACAATGGGTCGAGGTAGGTGGAGGCAACTCCTCTGGTTAATGCGGCTTTTCTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTAGCCGAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACGCCTGGCCTGAATGTGGCTTTTCCTCGAAATTCCTCCTGACCCACTCTGGGGACCTCATCTCTCCTCTCCTTCCTCCCCTCCCTTTCCTGGGAGGGCACCGCCCCAGGGACTAGTGCTCAGAAGCTGGTCGTAAAACTGATGGCGTCCTCTCTCCTGTTCAGGTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTTATCACTGCGGAACGCATCGAGCTCCTCTTTTTCCGCAAGACCATAGGGAATACTCCAATGGAGAAGCTCCTTTGTGATATGTTCAAAAACTAGTGGGGGTGGAGGTGAAATGTTTCCAAGCACTCTGGAAAACAATCTACTGAAACGAAACATTTGCCTACTCTTTGCCCCAGCAATTCCTCGTAGGTGTGTGTACCCAGCAGAAATGCCCACCGAAAGATATTGTAAGAATATTCATAGCAGCTTTATTCATAATAGCCCCAAACTGTATATTGATGGTAGGATGAATTAACAAGTTGTGGTATATTCATATAATGAAAAATAATTTAAAAAGAATGAATTACGGATACATGTGGCAACACAGGTAAACTTCACAGACATAAAAGTTGAATGAAAGAAGCCAGGCCGAAGTTCCATTTATGCAGAGTTCAGGAACAGGCAAGACTAATTGACAATAATAGAAGTTGGAATAGTGGTTACTTCTGGGTGGTGGGGGATTGATACAGAGGGGGCTCATGGGAGCCCTCTGGTGTACCAGAAATGTTGATTTTGATCTGGGCAGTGGTTTCACAAATGTATTCATACGTAATAATTCATTGAGCTGTGCACTTTATTTTGTTAGACCTCAATAAAAAAGTAAAAAAAAAAAACAAAAAAAACCAGAAAAATGAGTGTGGTCAAGGCTCTCCCTTTGGGGACACTGAAGGAATGAGCGCAAGGTCTTTGAGTTCCATCTGGGTTCCACTCCAAGTCAGAGACCAGGCGCAATGAATTCAAGCCCAGTGGAAAATCTCCCATAGAATTCAACCACCCAGCTTCTCTCCAGATGGCATCCCATCATCCGCAGCATCTCTCAACCTTTATCTCCTATCTCCTGCCTCATCTCCTTCCTAAGTAAAGAACACCTTCCAACTCAACATAAGGCAGCTACAGGTACGTTTTGTGAAAGGGACTCTTCATCACTTCTCAGGTCCTTATGGAAAGATACAGCTCAGACAAACTTCATCATTTTCTTTTTCTCTTTTTTCTTTTTTTGAGACTGAGTTTTGCTCTTGTTGCACAGGTTGGAGTGCAATGGCGCAATCTTGGCTCACGACAACCTCCGCCTCCCGGGTATAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGAGATTACAGGTATGCACCACCATACCCAGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTAGAGCTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCTAATCCTTTTTGAAGATAGACCCAGATGACTGTGAAAATAATATTTTAACATGTTAACATAGATCAGGCAATGTATATATTAATAGCAGGCAGTGAGCCGGGCACTTTTTAAATTGCCATTTAATCCGCAGATTAACTCTGAGGGAAGAGCCAATTTTCTCCATTTATAAGTGAAAAAACTGATGCTTAGAGAGGACTCAAACCTTGGTGTGACTCTACCTAATGCTGCTTAACTTTGGCACCGCCTCTTTCCCAACTTCCCCTTCACTTTTGGAATGAAAGACTGAACAATTCTGTTGCATTTTCTGCCTTCAAAGGATAAGTGTTTGAAATCAAGACAGAAAGGGTCATGTGAGAAGGCTGAGAAATCCTAGGGGTTCCCTGTCCTTTGGCTTGTGTTTGAATTCCCTTAGCTGACAGAAATGCCCTATCTACTCAGGAACTCAGAACCGCTAGGGCTGGTGCCAGAGAGGAAAGAGTATGGCAAATGCTGCCCAGCTGAAGCCCTTCTTACTTCAGCCCCTAGGCTACTTCAGATTCTCTCCAACTTTTCAAAGTATCAGAGTGGCCTCAGTTAATCGGTCAACTAATGTCTATAATGCCATTATACAGTCCAATTCCCTATCAAAAGTTTTATCCATATGAGCTAAGCCCTGAGCAAAGCCACCTTAGTAAGACACATGGTTGAAATATGACATGACCAGCCCTGCGTATGTATCTTACAGTTTGGCTTTGGAGGACATGGTAAGACTGCAAAGGTAGCCTGCTGAAGTTCACAGGCTAGCATCTGGGATGTGTGAGCCCAGCACATCTACATTGG
|
GAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAGAGGAGCATGGGACTGCCCAATGTGGAGTAGCCTCCTTGATGCTGGGTGTTGACCCTGGCCATCAGACCTACCCAGGGAAGGTTTAGTTCCCCCATCTGTCTCTTGGGGCTTCACCATCCGTCTTTTGTGTTGCGGACTCCTGTCTTAGCAAATACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCACCCAGGCTGGAGCGCAGTGGCGTGATCTCGGTTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGTTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCTCAGCCAGCAAATAGTTCTTATTTAAAACAATAAATATTTTTTTCAATGACTATCTCAGTCACCAAAATTATCCTTCAACTTCAGGACATTTTCAGTAATGGCTATCATCATCCTAGGTGGTATACAGACAGGAATTTGTATTCTTACAAACAATTCTTATCTACTAAAAACTAATCATATAATTATAATACTTATATATGAGATTAATAATAATATTTTCATATACAGGTGCTCCTTGACTTATGATGGGGTTACATCTGGATAAACCCATTGTTAAGTTGAAGCTACTGTAAGTTGAAGATGAATTTTCATACATAACCCATCTTAAGTCAAGGAGCATACTGAATGCTTATCACTTTCACACCATGATAAAGTCGAACCATCTGTATAGAGTTAATATAAACTTCACTTTATAATCTTTACATATAATAAACAATATTTACTCATTATTTTCATTGCACTCCTAAACTAAATAGAGGGTGGCGGCTCACAATGGGTCGAGGTAGGTGGAGGCAACTCCTCTGGTTAATGCGGCTTTTCTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTAGCCGAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACGCCTGGCCTGAATGTGGCTTTTCCTCGAAATTCCTCCTGACCCACTCTGGGGACCTCATCTCTCCTCTCCTTCCTCCCCTCCCTTTCCTGGGAGGGCACCGCCCCAGGGACTAGTGCTCAGAAGCTGGTCGTAAAACTGATGGCGTCCTCTCTCCTGTTCAGGTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTTATCACTGCGGAACGCATCGAGCTCCTCTTTTTCCGCAAGACCATAGGGAATACTCCAATGGAGAAGCTCCTTTGTGGTATGTTCAAAAACTAGTGGGGGTGGAGGTGAAATGTTTCCAAGCACTCTGGAAAACAATCTACTGAAACGAAACATTTGCCTACTCTTTGCCCCAGCAATTCCTCGTAGGTGTGTGTACCCAGCAGAAATGCCCACCGAAAGATATTGTAAGAATATTCATAGCAGCTTTATTCATAATAGCCCCAAACTGTATATTGATGGTAGGATGAATTAACAAGTTGTGGTATATTCATATAATGAAAAATAATTTAAAAAGAATGAATTACGGATACATGTGGCAACACAGGTAAACTTCACAGACATAAAAGTTGAATGAAAGAAGCCAGGCCGAAGTTCCATTTATGCAGAGTTCAGGAACAGGCAAGACTAATTGACAATAATAGAAGTTGGAATAGTGGTTACTTCTGGGTGGTGGGGGATTGATACAGAGGGGGCTCATGGGAGCCCTCTGGTGTACCAGAAATGTTGATTTTGATCTGGGCAGTGGTTTCACAAATGTATTCATACGTAATAATTCATTGAGCTGTGCACTTTATTTTGTTAGACCTCAATAAAAAAGTAAAAAAAAAAAACAAAAAAAACCAGAAAAATGAGTGTGGTCAAGGCTCTCCCTTTGGGGACACTGAAGGAATGAGCGCAAGGTCTTTGAGTTCCATCTGGGTTCCACTCCAAGTCAGAGACCAGGCGCAATGAATTCAAGCCCAGTGGAAAATCTCCCATAGAATTCAACCACCCAGCTTCTCTCCAGATGGCATCCCATCATCCGCAGCATCTCTCAACCTTTATCTCCTATCTCCTGCCTCATCTCCTTCCTAAGTAAAGAACACCTTCCAACTCAACATAAGGCAGCTACAGGTACGTTTTGTGAAAGGGACTCTTCATCACTTCTCAGGTCCTTATGGAAAGATACAGCTCAGACAAACTTCATCATTTTCTTTTTCTCTTTTTTCTTTTTTTGAGACTGAGTTTTGCTCTTGTTGCACAGGTTGGAGTGCAATGGCGCAATCTTGGCTCACGACAACCTCCGCCTCCCGGGTATAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGAGATTACAGGTATGCACCACCATACCCAGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTAGAGCTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCTAATCCTTTTTGAAGATAGACCCAGATGACTGTGAAAATAATATTTTAACATGTTAACATAGATCAGGCAATGTATATATTAATAGCAGGCAGTGAGCCGGGCACTTTTTAAATTGCCATTTAATCCGCAGATTAACTCTGAGGGAAGAGCCAATTTTCTCCATTTATAAGTGAAAAAACTGATGCTTAGAGAGGACTCAAACCTTGGTGTGACTCTACCTAATGCTGCTTAACTTTGGCACCGCCTCTTTCCCAACTTCCCCTTCACTTTTGGAATGAAAGACTGAACAATTCTGTTGCATTTTCTGCCTTCAAAGGATAAGTGTTTGAAATCAAGACAGAAAGGGTCATGTGAGAAGGCTGAGAAATCCTAGGGGTTCCCTGTCCTTTGGCTTGTGTTTGAATTCCCTTAGCTGACAGAAATGCCCTATCTACTCAGGAACTCAGAACCGCTAGGGCTGGTGCCAGAGAGGAAAGAGTATGGCAAATGCTGCCCAGCTGAAGCCCTTCTTACTTCAGCCCCTAGGCTACTTCAGATTCTCTCCAACTTTTCAAAGTATCAGAGTGGCCTCAGTTAATCGGTCAACTAATGTCTATAATGCCATTATACAGTCCAATTCCCTATCAAAAGTTTTATCCATATGAGCTAAGCCCTGAGCAAAGCCACCTTAGTAAGACACATGGTTGAAATATGACATGACCAGCCCTGCGTATGTATCTTACAGTTTGGCTTTGGAGGACATGGTAAGACTGCAAAGGTAGCCTGCTGAAGTTCACAGGCTAGCATCTGGGATGTGTGAGCCCAGCACATCTACATTGG
|
Task1_train_21672
|
Given a variant located on Chromosome 15 and affecting MYO9A (myosin IXA), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; MYO9A-related disorder
|
TACAGTTCGGCTCAGGTTAATGACTCATTTATCTAATCAGGGGACTTGTTTTGCATTTTTCTCTTTTTGTTGTTGTTGTTTTTGCCTTCATAAAACATCACTTTTGTCACTTAAAAACTGGGTCTACCTCCAACAAAAGATAAAAGACAACGAGAGTATTCTGGACAATAGGAGAAATTTCAATTAATTAGATCTTTGACAATTCAAACAGCTTAAAACAGTTCAAAGATAGAATATTTAATGAGTCAAATAAAGACCATTCTAAAATTTTTCTCTGATAATTGACAGACACTAAAGAATATTAGAGAGCTCAGTTACAGATATGTATGGAAATAAAATGTTATTTCACTCTACTTCATCAGTGATGTTCTGGTTCATATTAGACATACGGTCTTTATCTTATATATTTCTAGGACAATTCCAAAATAAAATTCTTTGCATTAATATACCCATCAATATACTATAATACTTGTCAAACCACATATACACCTGATTTGGGCTGAGAAGATGATATAGTTATATTCTTAGCTTAAAATGGTGCAGCTTTATTCAAACACAACACCAATGTTATATTGTGTGATTAATACAAATTCACATTACATATAGCCTTCTATTTGGCTGGGTTGGTCCAGGAAGACACTTTTTGCTCACTATATGTTTTAAAATTCATGTTTATTTCTTATTAGTGGAAAGTGAGGTGGAGGAAGAAAGTTTACAGGCAAAAAATGTAAAAGTGCATTGTAGCTAAAAGCTACTGGATTATTTTAGACCAAGGATCAGTAAACTAAACCACGGATCAGTAAACTATGGCCAACAGGTCAAATACAATCCACTGTCTGTTTTTGCAGTTTTATTACAAGACGGTCATGCCCATTTGTTTACTTAGTGTCTATGGCTGCTTTCACACTACAGTGGGTGAGTTAAGTAGTTAAGTTAGGTAGTTGCAATAGAGACTATATGACCCACAAAGTCTAAAATATTTGTTATCTGGCCGTTTACAGAAAAAATGTAAGGACCACTGCTCTAGACCTTTTAGGATACAACATGGAAAATTTCTACATTAGTGCCAAGTCAAATAATCTTAATTTTGCCTAATTTGTGGCTTTTTAAAGTGCCCTTTATTTGAGTTCTATTAAATTAAGGTTTAGCTTAGTTGCTGTGTTCACTGAGGTTTCCCATGCACAAACCATTACATGGGAAGAAGCTGTGAAGGTTAGCTTTAGATTAGCAAAGACTATTTCCATCAGATTTGCTTGCTATTTTTCTTATATTGCTGTAAAATTACCATTTCGGAGTCACTGTGAGAGGCCTGACCCAGGCTGGGTGCAGGCCCTAGCTCACAGTGAGAAGCTTGGTCAAGGGAGAGAAGGGGCTCAATAATGTCATCGTAATCATCTTCCTCTGTATCCCCCTCCCCATCGGCAAAAGTACCTCTAGTCAAGAAATCGGAGCGCGTCCGCGCCATTCGAGCTTTCTTTTTATGGGCCGGTCTGGCAACCTGCTTGACCAAATGATAAAACAAATAACACAACAATGTTTGGGGTTTTTGTTCTTTTTGAGATGATGCCAATGAAAGACATCAGAGGGCTCATGAATTTCTTGAAATATCCCTCCACCCAACCATGCCCTTTCCACTAGCAGAAGTGACAGGGATGACCAAAAGGAATCTGTATACATTACTCTGGATGAAGGACTAGAATGGAAGCTAAATCTACACTGTTCTACATAGCCAAAGAAGTCATCTTTCACTGCCATAGTAAGTCAACAAAGTCTCTTGCACAAATTGCCTTCTTTTTCTTAGCAACTGGGTTTTTAGGCACCATTCCCTGCCTGGAGTACACCTTCATAATTATAACAATCTCCGCTCATGGCTTCTTTCTCTAAAAACACTTGGGAGTAAATGGGTAGATGAGGTGCTCTACCTACAAGAATAATAATTTCCAAAATAATGTACATCTCTTTTGTATAGAAGATAGATAAACAAAAACTCAAAACTTACCTCTCTTTGGCCTGGCCCAGCTAACTTCACAGGTTTCCATGCTGGTTCATCTTCTTTATGGAGTTGAGGATTTTTACTGTTTAAGGCTTCTTTGCTGACACTTTAAATAAAACAATGAAATTACATTTCAGTTCTTAGCAGATATCCCATGGCAGCCAGGTTAAAGACTTCCAGCAAATTCCATAAATATTTTCAGATCTTAGTCAATTCCCAAGACAATTAAGTCATATTTTTTCTGCTTAGCTAATTAGTAATAATAATCCTGAACCTACGCATAAGACTGAATTACTAAAGGCCTTGTCCTGATGATCAGTGGGTATATTCCACTATGAATATGACATATGTTTAAGAATAGTAGCTGCAAAATAAACTCAAGAAATAAAATAGATCTGATGATGGGGAAAGGAAAATACCAAACCCCTGAATCTTTAGAATACTAGTCTTACAAGGGGCCTTTCCATCTAATCATTATAAAATACCTGAAAAATAGCCATCCAGGGATGAGGATCTCATTATATTTTATACTGAGATGGTTCTTATTGGTTAGAAAACTCCTTCTGAAATCTCTCTTTGTAGTTTTCATCCACTGTCTTTGAGTTTTAAAACTTGACGTTGAGGCTGGGTGCAGTGGCTCATGCCTGTAAACCCAGCAGTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGCAAAACTCCGTCTCTACCAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGTGGCTGTAGTCCCAGGTACTTGGAAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACACTCTAGCTTGGGTGACAAGAGTGAAACTGTCTCAAAAAAACCAAAAAACAAACAAACAAAAAGCTTGATGTTGAATAGCCTAAAATCAACACTGGCAGGGTAAGAAATTGTTATCAAACTAAAAGTATGCTCCAGACAATACAGGTGTTACAGTGTTAGCTTATGAAAATTTAATTTTGATTGAAAAACTGTATGATGAGAATGCTTTATCATTAAATTCTGGGCAGAAATAGATGCCAGAATCTGATGAAAAAGTGTATATAACCTTCATGGCCCCAATTACCTATATTAACTCAGTACCATGAGTCTCATCAACAACATATTGATAATCTCTCCTGAGCAGAACTGTAAGCTCCTTGAGAATCATATCTTACTTCCAAGGATAGTGCTAGCTAAAATTAGACACTAACTTATGATACTAGTTGGTAGATTAATTGTTCTTCCATTCAAAATCTTTCATTTAATTTTTATAAAAGTAAGTCTAGGAGCCATAAGAAATTATCTTGCCCTTTGCCTCTATGCAATAAGCCCGAAACAAACACAAATAGATGCAATCTTTGCTAGCTATAGGCTTCTTAGAGATCTCCCTTTTTGAGCAATGTATGTACAATGTGTATAAGCCTAGCAATCCTAGCTTGTTCTAAAGGATTCTCTTCTGGCTATCAAAATCTCTCTTGCCACAGTTGAGCCTATTGGACCTTCATTTATCCTCCAAAGAGAAACAACAATTAATAGGATCTTGATAGTACTTGACCACTGCAATTAACCTTTTAACTCACAACATTTTCTTTAGACTTCACCATGAATTCTTTTTGTCCTTTCTCATTAAACAGTTAAAAACTACTGTGTACTCATCACCACTACAGTACAAAAGGGACACTAACCTAGTATTACTTTCTAATTATAAAACCCAATGCCGATCCTTAATGATGAAATGCAAGTTCTAGTCCCAGCCATTTCTCTAAATACATGATCTTGAATAAGTCATTTCACCTCTATGGGCCCCAGTGACCTTATCTGTAACATGTGGGAACTGGATTACATAATTCAGAAGCACCAGCATTTATGATTCTACAAAATGTTAATGTTTCTAATATTACTTATACAACAGGATGAGATTTAAAGTATGAATTTTATCTGTAGAGTTTAATATAATCTAATATATAATAATTTTAAAGATAAGTAGATCATTAATAAAGCAATAAAAGAAATCAACTCAAATACACCTACA
|
TACAGTTCGGCTCAGGTTAATGACTCATTTATCTAATCAGGGGACTTGTTTTGCATTTTTCTCTTTTTGTTGTTGTTGTTTTTGCCTTCATAAAACATCACTTTTGTCACTTAAAAACTGGGTCTACCTCCAACAAAAGATAAAAGACAACGAGAGTATTCTGGACAATAGGAGAAATTTCAATTAATTAGATCTTTGACAATTCAAACAGCTTAAAACAGTTCAAAGATAGAATATTTAATGAGTCAAATAAAGACCATTCTAAAATTTTTCTCTGATAATTGACAGACACTAAAGAATATTAGAGAGCTCAGTTACAGATATGTATGGAAATAAAATGTTATTTCACTCTACTTCATCAGTGATGTTCTGGTTCATATTAGACATACGGTCTTTATCTTATATATTTCTAGGACAATTCCAAAATAAAATTCTTTGCATTAATATACCCATCAATATACTATAATACTTGTCAAACCACATATACACCTGATTTGGGCTGAGAAGATGATATAGTTATATTCTTAGCTTAAAATGGTGCAGCTTTATTCAAACACAACACCAATGTTATATTGTGTGATTAATACAAATTCACATTACATATAGCCTTCTATTTGGCTGGGTTGGTCCAGGAAGACACTTTTTGCTCACTATATGTTTTAAAATTCATGTTTATTTCTTATTAGTGGAAAGTGAGGTGGAGGAAGAAAGTTTACAGGCAAAAAATGTAAAAGTGCATTGTAGCTAAAAGCTACTGGATTATTTTAGACCAAGGATCAGTAAACTAAACCACGGATCAGTAAACTATGGCCAACAGGTCAAATACAATCCACTGTCTGTTTTTGCAGTTTTATTACAAGACGGTCATGCCCATTTGTTTACTTAGTGTCTATGGCTGCTTTCACACTACAGTGGGTGAGTTAAGTAGTTAAGTTAGGTAGTTGCAATAGAGACTATATGACCCACAAAGTCTAAAATATTTGTTATCTGGCCGTTTACAGAAAAAATGTAAGGACCACTGCTCTAGACCTTTTAGGATACAACATGGAAAATTTCTACATTAGTGCCAAGTCAAATAATCTTAATTTTGCCTAATTTGTGGCTTTTTAAAGTGCCCTTTATTTGAGTTCTATTAAATTAAGGTTTAGCTTAGTTGCTGTGTTCACTGAGGTTTCCCATGCACAAACCATTACATGGGAAGAAGCTGTGAAGGTTAGCTTTAGATTAGCAAAGACTATTTCCATCAGATTTGCTTGCTATTTTTCTTATATTGCTGTAAAATTACCATTTCGGAGTCACTGTGAGAGGCCTGACCCAGGCTGGGTGCAGGCCCTAGCTCACAGTGAGAAGCTTGGTCAAGGGAGAGAAGGGGCTCAATAATGTCATCGTAATCATCTTCCTCTGTATCCCCCTCCCCATCGGCAAAAGTACCTCTAGTCAAGAAATCGGAGCGCGTCCGCGCCATTCGAGCTTTCTTTTTATGGGCCGGTCTGGCAACCTGCTTGACCAAATGATAAAACAAATAACACAACAATGTTTGGGGTTTTTGTTCTTTTTGAGATGATGCCAATGAAAGACATCAGAGGGCTCATGAATTTCTTGAAATATCCCTCCACCCAACCATGCCCTTTCCACTAGCAGAAGTGACAGGGATGACCAAAAGGAATCTGTATACATTACTCTGGATGAAGGACTAGAATGGAAGCTAAATCTACACTGTTCTACATAGCCAAAGAAGTCATCTTTCACTGCCATAGTAAGTCAACAAAGTCTCTTGCACAAATTGCCTTCTTTTTCTTAGCAACTGGGTTTTTAGGCACCATTCCCTGCCTGGAGTACACCTTCATAATTATAACAATCTCCGCTCATGGCTTCTTTCTCTAAAAACACTTGGGAGTAAATGGGTAGATGAGGTGCTCTACCTACAAGAATAATAATTTCCAAAATAATGTACATCTCTTTTGTATAGAAGATAGATAAACAAAAACTCAAAACTTACCTCTCTTTGGCCTGGCCCAGCTAACTTCACAGGTTTCCATGCTGGTTCACCTTCTTTATGGAGTTGAGGATTTTTACTGTTTAAGGCTTCTTTGCTGACACTTTAAATAAAACAATGAAATTACATTTCAGTTCTTAGCAGATATCCCATGGCAGCCAGGTTAAAGACTTCCAGCAAATTCCATAAATATTTTCAGATCTTAGTCAATTCCCAAGACAATTAAGTCATATTTTTTCTGCTTAGCTAATTAGTAATAATAATCCTGAACCTACGCATAAGACTGAATTACTAAAGGCCTTGTCCTGATGATCAGTGGGTATATTCCACTATGAATATGACATATGTTTAAGAATAGTAGCTGCAAAATAAACTCAAGAAATAAAATAGATCTGATGATGGGGAAAGGAAAATACCAAACCCCTGAATCTTTAGAATACTAGTCTTACAAGGGGCCTTTCCATCTAATCATTATAAAATACCTGAAAAATAGCCATCCAGGGATGAGGATCTCATTATATTTTATACTGAGATGGTTCTTATTGGTTAGAAAACTCCTTCTGAAATCTCTCTTTGTAGTTTTCATCCACTGTCTTTGAGTTTTAAAACTTGACGTTGAGGCTGGGTGCAGTGGCTCATGCCTGTAAACCCAGCAGTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGCAAAACTCCGTCTCTACCAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGTGGCTGTAGTCCCAGGTACTTGGAAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACACTCTAGCTTGGGTGACAAGAGTGAAACTGTCTCAAAAAAACCAAAAAACAAACAAACAAAAAGCTTGATGTTGAATAGCCTAAAATCAACACTGGCAGGGTAAGAAATTGTTATCAAACTAAAAGTATGCTCCAGACAATACAGGTGTTACAGTGTTAGCTTATGAAAATTTAATTTTGATTGAAAAACTGTATGATGAGAATGCTTTATCATTAAATTCTGGGCAGAAATAGATGCCAGAATCTGATGAAAAAGTGTATATAACCTTCATGGCCCCAATTACCTATATTAACTCAGTACCATGAGTCTCATCAACAACATATTGATAATCTCTCCTGAGCAGAACTGTAAGCTCCTTGAGAATCATATCTTACTTCCAAGGATAGTGCTAGCTAAAATTAGACACTAACTTATGATACTAGTTGGTAGATTAATTGTTCTTCCATTCAAAATCTTTCATTTAATTTTTATAAAAGTAAGTCTAGGAGCCATAAGAAATTATCTTGCCCTTTGCCTCTATGCAATAAGCCCGAAACAAACACAAATAGATGCAATCTTTGCTAGCTATAGGCTTCTTAGAGATCTCCCTTTTTGAGCAATGTATGTACAATGTGTATAAGCCTAGCAATCCTAGCTTGTTCTAAAGGATTCTCTTCTGGCTATCAAAATCTCTCTTGCCACAGTTGAGCCTATTGGACCTTCATTTATCCTCCAAAGAGAAACAACAATTAATAGGATCTTGATAGTACTTGACCACTGCAATTAACCTTTTAACTCACAACATTTTCTTTAGACTTCACCATGAATTCTTTTTGTCCTTTCTCATTAAACAGTTAAAAACTACTGTGTACTCATCACCACTACAGTACAAAAGGGACACTAACCTAGTATTACTTTCTAATTATAAAACCCAATGCCGATCCTTAATGATGAAATGCAAGTTCTAGTCCCAGCCATTTCTCTAAATACATGATCTTGAATAAGTCATTTCACCTCTATGGGCCCCAGTGACCTTATCTGTAACATGTGGGAACTGGATTACATAATTCAGAAGCACCAGCATTTATGATTCTACAAAATGTTAATGTTTCTAATATTACTTATACAACAGGATGAGATTTAAAGTATGAATTTTATCTGTAGAGTTTAATATAATCTAATATATAATAATTTTAAAGATAAGTAGATCATTAATAAAGCAATAAAAGAAATCAACTCAAATACACCTACA
|
Task1_train_21673
|
A sequence alteration has been identified in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it disease-inducing or harmless?
|
Pathogenic; Tay-Sachs disease
|
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
|
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAATGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
|
Task1_train_21674
|
The gene HEXA (hexosaminidase subunit alpha), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Inborn genetic diseases
|
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
|
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAATGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
|
Task1_train_21675
|
A variant was discovered in gene HEXA (hexosaminidase subunit alpha), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Tay-Sachs disease
|
AGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATC
|
AGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCTTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATC
|
Task1_train_21676
|
A genetic alteration is present in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Tay-Sachs disease
|
TCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTT
|
TCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATACTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTT
|
Task1_train_21677
|
The following genetic variant occurs in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; not specified
|
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
|
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTACCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
|
Task1_train_21678
|
A genomic change on Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Tay-Sachs disease
|
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
|
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTACCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
|
Task1_train_21679
|
A variant has been detected on Chromosome 15 in HEXA (hexosaminidase subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; GM2-ganglioside accumulation
|
CCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAG
|
CCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCGCATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAG
|
Task1_train_21680
|
Given this context: Chromosome 15, gene HEXA (hexosaminidase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Tay-Sachs disease
|
GGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGA
|
GGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTAGCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGA
|
Task1_train_21681
|
A variant found in Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Tay-Sachs disease
|
TAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATT
|
TAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTGGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATT
|
Task1_train_21682
|
This variant impacts the gene HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Tay-Sachs disease
|
GAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTG
|
GAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCGGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTG
|
Task1_train_21683
|
The variant affects gene HEXA (hexosaminidase subunit alpha), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Tay-Sachs disease
|
TCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCT
|
TCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATTTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCT
|
Task1_train_21684
|
A change on Chromosome 15 affects gene HEXA (hexosaminidase subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Tay-Sachs disease
|
CCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGA
|
CCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACATGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGA
|
Task1_train_21685
|
A variant has been detected on Chromosome 15 in HEXA (hexosaminidase subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Tay-Sachs disease
|
AAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAG
|
AAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATGTGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAG
|
Task1_train_21686
|
Located on Chromosome 15, this mutation impacts HEXA (hexosaminidase subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Tay-Sachs disease
|
CTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGC
|
CTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGGAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGC
|
Task1_train_21687
|
Consider this mutation in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGAGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
Task1_train_21688
|
Consider this mutation in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this a benign change or a disease-causing variant?
|
Pathogenic; Tay-Sachs disease
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGTGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
Task1_train_21689
|
A variant was discovered in gene HEXA (hexosaminidase subunit alpha), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Inborn genetic diseases
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGTGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
Task1_train_21690
|
The following genetic variant occurs in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Global developmental delay
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGTGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
|
Task1_train_21691
|
Given this context: Chromosome 15, gene HEXA (hexosaminidase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Tay-Sachs disease
|
CCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCA
|
CCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTAGCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCA
|
Task1_train_21692
|
The gene HEXA (hexosaminidase subunit alpha) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Tay-Sachs disease
|
TTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCACAGGGTAAAACCTGTCAACTTCCAGGGACAATTCCACAGAGACGGGAAAACACGCCAATTGTTCCCATAAAAAAAGCTTCCTGGCTGGGCGCGGTGGCACACACCTGTAATCCCAGAACTTTGGGAGGCCGAGATGGGTGGATCACTTGAACTCAGGAGTTCAAGACTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATACAAGAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAAGAGGGAAGATTGCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCAGGGACTGGGCCACTGCACTCCACCAACACCAACCTTCCCACATCATCCTTTCTCTCTCTCTTTTAATCAGCCCCAATTTGTTACCTCGGAGAGCTCCCCAGACAGTCTCAGAGAGGAGTAAACACTGGTCATCATTTATGGTCAGGGTATCTGAAATGACAGAAATGAACTCATTTAGTTGGTTAAGGTTTTCTATTCTCAGATTATAGACCAGATATTCTATATAAATCACTGGACTAAAAAAAAAAAACAGTAAGACCATATATTTTAAAAAATCTTTCAATGAGGAGATGTCCCCAGAGCAAGACAGCTGTAGGATGGCCTGGTCTGGGGCCAGAGTGGGAGGGTGGTCACCACAGTGACTCTGTAGACCCTGGATGATGATGTACAGCAAGAGTCAGGCTGGAGTGGAGGTCTGTACAAAGCACCACCTACCTCATGGGTCAGTTTCCACAGCAGAAAGATGAAAGAAGTCTTCTCCTGGCAAAGGGAACAGGGATGCCTGCAGGGGTGAGTGCAGCACGCGATGCTCCCAATGCCTTTGTAATCACCCTCCTTTCCCCTTCCTCTATGCTTCAGCTACTTCCTCCAAGAATGTGAGGAAGGAGCCAAACTCAACTGTTCACTTTGGAGACTGAGAAGTCCCCAAATGCTGCTCAGGGAAGACAGGAGGCAGTCACTGGACTAATGACTTAACTTCATCTCAGTATAAGTGACCAGAACCCCTGCTTTCCCCAGTGTAGGGTCTATTAGAGAAAAGTAGCAAAGTATACACTTTCCTAAAATAGAAATGTATTCAGTACACCAGGTAGAAGTCCTGTGGGACTCAGTGAAGAGCCAGTGTGATGTTCCACAGCCAACCTTTAGCACTGGTTAAGTTTCTGCATAGGAAAAACTCATCTTCCATGGCTCTCAGCACTTGGTGACCCTCGGTCCCCAGGGTCAAGGGGGACTCCAGGCCGAGCATCAGCAGTTTAGGCCAGGCCATCCAGAGTTACAGCTTCAGACAAGTGTTTGCTCTTCTAAGACAGGGAACAGGATGGTACTTACAATTCTCCACTGACTCCAAAGTAGGAAGCTGGTTACATCCAGGTGTGACTACAGAGACAACCAACACATTCTTCTCCAGTGTATGCCGTTTCCCTAGGAAGACAGGGTAAGCTTGGTGCGGCCAACCTGCCATTAGAAGCAACAGGCAAAACCAAGACCCTAGCTCTAGTCCCTCAGCTCACACGCCTGTGGTAAAGGAAAGGGAGGACATGGCATTTACCCTTGGCATAGGCAGTGCCTGATCATCTGTTCAGCTGTCTCACTCTCGTTGTGCCCCTCTTCTCCTCAGTAGCTGCCCTGACCCATGTCTGAATGCTCTGGGTGACAGCTCTTCTTAACCAGGGCTCTATATTTCTGACTGCCCTTGGCCTGTACCAAACAAACAACTCCATGACCTCAACAACTGCTTCTGAATGAAAGGCAGCTCTAGAGCACTGCTACTCCAAGTATGGTCTGCAGATTAGCTGCCAATTTGCAAACTGTGTTACTGGCTGGTCACTATATAGAAAACTTATATGAAGCCTGAATGTAAATCAATTATGTCAGAGTAAACACACTGTCTAGTTCTAACATTTTTTCATACAAGATTTTCTTGATGAAGAGATCAGTCTTACATTCTGGTACATATGCTTCTTATCTCATTGAAGATTGGCATATTAAGTAGTACTGCTCTTGAGGGCTCCAGATGAAGGGTTTCCAGTTTTGCAAAAGCCTAGGAGCTAATGGAGCAGATGACAGAAGGATCAGGCAGAGGAGGCCTGAGATGATGCAACTGATACCTCAGAGAAGATCAGGGTCACCCACCCATCTTGCTTCCTTCCTTCCTCTTCCCAAACAGGTTCTCTATCCAAGGTAGATTTTACCCTAATAGTGGAGGGTTGAACCAACATAGTATCTAATATAGCTTTACAGACCCTTGTCTATGCAGAAAAAATGCCAAAGCCAAAATATGAATACACTGTCTCTTCTCACCCTCCTGCTGGTTCTTCCCTGTGATTTTCAGGGTGGCTCTGGTGTTATAGCCCCAAGCCTTAACTTAATGAACCCCTCTCTATTCTATTCTTTCCTGGAGCCATATTCATCCCACTGGCATCACAACATCCATGACTTCTTA
|
TTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCACAGGGTAAAACCTGTCAACTTCCAGGGACAATTCCACAGAGACGGGAAAACACGCCAATTGTTCCCATAAAAAAAGCTTCCTGGCTGGGCGCGGTGGCACACACCTGTAATCCCAGAACTTTGGGAGGCCGAGATGGGTGGATCACTTGAACTCAGGAGTTCAAGACTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATACAAGAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAAGAGGGAAGATTGCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCAGGGACTGGGCCACTGCACTCCACCAACACCAACCTTCCCACATCATCCTTTCTCTCTCTCTTTTAATCAGCCCCAATTTGTTACCTCGGAGAGCTCCCCAGACAGTCTCAGAGAGGCGTAAACACTGGTCATCATTTATGGTCAGGGTATCTGAAATGACAGAAATGAACTCATTTAGTTGGTTAAGGTTTTCTATTCTCAGATTATAGACCAGATATTCTATATAAATCACTGGACTAAAAAAAAAAAACAGTAAGACCATATATTTTAAAAAATCTTTCAATGAGGAGATGTCCCCAGAGCAAGACAGCTGTAGGATGGCCTGGTCTGGGGCCAGAGTGGGAGGGTGGTCACCACAGTGACTCTGTAGACCCTGGATGATGATGTACAGCAAGAGTCAGGCTGGAGTGGAGGTCTGTACAAAGCACCACCTACCTCATGGGTCAGTTTCCACAGCAGAAAGATGAAAGAAGTCTTCTCCTGGCAAAGGGAACAGGGATGCCTGCAGGGGTGAGTGCAGCACGCGATGCTCCCAATGCCTTTGTAATCACCCTCCTTTCCCCTTCCTCTATGCTTCAGCTACTTCCTCCAAGAATGTGAGGAAGGAGCCAAACTCAACTGTTCACTTTGGAGACTGAGAAGTCCCCAAATGCTGCTCAGGGAAGACAGGAGGCAGTCACTGGACTAATGACTTAACTTCATCTCAGTATAAGTGACCAGAACCCCTGCTTTCCCCAGTGTAGGGTCTATTAGAGAAAAGTAGCAAAGTATACACTTTCCTAAAATAGAAATGTATTCAGTACACCAGGTAGAAGTCCTGTGGGACTCAGTGAAGAGCCAGTGTGATGTTCCACAGCCAACCTTTAGCACTGGTTAAGTTTCTGCATAGGAAAAACTCATCTTCCATGGCTCTCAGCACTTGGTGACCCTCGGTCCCCAGGGTCAAGGGGGACTCCAGGCCGAGCATCAGCAGTTTAGGCCAGGCCATCCAGAGTTACAGCTTCAGACAAGTGTTTGCTCTTCTAAGACAGGGAACAGGATGGTACTTACAATTCTCCACTGACTCCAAAGTAGGAAGCTGGTTACATCCAGGTGTGACTACAGAGACAACCAACACATTCTTCTCCAGTGTATGCCGTTTCCCTAGGAAGACAGGGTAAGCTTGGTGCGGCCAACCTGCCATTAGAAGCAACAGGCAAAACCAAGACCCTAGCTCTAGTCCCTCAGCTCACACGCCTGTGGTAAAGGAAAGGGAGGACATGGCATTTACCCTTGGCATAGGCAGTGCCTGATCATCTGTTCAGCTGTCTCACTCTCGTTGTGCCCCTCTTCTCCTCAGTAGCTGCCCTGACCCATGTCTGAATGCTCTGGGTGACAGCTCTTCTTAACCAGGGCTCTATATTTCTGACTGCCCTTGGCCTGTACCAAACAAACAACTCCATGACCTCAACAACTGCTTCTGAATGAAAGGCAGCTCTAGAGCACTGCTACTCCAAGTATGGTCTGCAGATTAGCTGCCAATTTGCAAACTGTGTTACTGGCTGGTCACTATATAGAAAACTTATATGAAGCCTGAATGTAAATCAATTATGTCAGAGTAAACACACTGTCTAGTTCTAACATTTTTTCATACAAGATTTTCTTGATGAAGAGATCAGTCTTACATTCTGGTACATATGCTTCTTATCTCATTGAAGATTGGCATATTAAGTAGTACTGCTCTTGAGGGCTCCAGATGAAGGGTTTCCAGTTTTGCAAAAGCCTAGGAGCTAATGGAGCAGATGACAGAAGGATCAGGCAGAGGAGGCCTGAGATGATGCAACTGATACCTCAGAGAAGATCAGGGTCACCCACCCATCTTGCTTCCTTCCTTCCTCTTCCCAAACAGGTTCTCTATCCAAGGTAGATTTTACCCTAATAGTGGAGGGTTGAACCAACATAGTATCTAATATAGCTTTACAGACCCTTGTCTATGCAGAAAAAATGCCAAAGCCAAAATATGAATACACTGTCTCTTCTCACCCTCCTGCTGGTTCTTCCCTGTGATTTTCAGGGTGGCTCTGGTGTTATAGCCCCAAGCCTTAACTTAATGAACCCCTCTCTATTCTATTCTTTCCTGGAGCCATATTCATCCCACTGGCATCACAACATCCATGACTTCTTA
|
Task1_train_21693
|
The gene HEXA (hexosaminidase subunit alpha), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Tay-Sachs disease
|
ACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGT
|
ACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGTAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGT
|
Task1_train_21694
|
A variant found in Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Tay-Sachs disease
|
GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATC
|
GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAACGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATC
|
Task1_train_21695
|
This variant affects gene HEXA (hexosaminidase subunit alpha) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Tay-Sachs disease
|
CCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAAC
|
CCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTTATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAAC
|
Task1_train_21696
|
A sequence alteration has been identified in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it disease-inducing or harmless?
|
Pathogenic; Tay-Sachs disease
|
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
|
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCAAGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
|
Task1_train_21697
|
Here is a genetic alteration in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Tay-Sachs disease
|
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
|
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCACGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
|
Task1_train_21698
|
This sequence variant lies in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Tay-Sachs disease
|
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
|
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCAGGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
|
Task1_train_21699
|
Given a variant located on Chromosome 15 and affecting BBS4 (Bardet-Biedl syndrome 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Bardet-Biedl syndrome 4
|
GGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAACCATTTGTATTTCCCTTTCTCTGTATCTTTGGTGACATACCATATGTGTTACAAACTTGCAGGCAGACAGTGGTAGTACTAACATGCAGAATGTATCCTTGGTGTCATCTTTTTTGGTATCCAGAGCTTTGTGACCCATCTAAGGTTTTTAATTTATACCCATGGCATTTATACCTATGGCAATGCACAGAACTAATTCATACTGGTATGACAAAGATTCATACCAGTTTTTTTTTTTCTTTTTTTAAGTGGAGTTTTGCTCTTATTGCCCAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCCCCGCTTTCCAGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTCGCTGGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTGTATTTCTAGTAGAGGTGGAGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTGCTGACCTCGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATACCAGTTTTTTTTGACACCGCTGATCCGAAGGCAGATACCAGTATGAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCGCCAAGGGTGGAGTGCAATGGCGTGACCTCGGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCTTCGGCCACCCAAAGTGCTGGGATTACATGCGTGAGCCACCGCGCCTGGCCACCAGTATGAATCTTGAAAGGTTCTCTTTCTTTTTCATCTGTGATAATACTTGGAAATCTTATCACACTTTTCTTAGCTTGCCTAGTTAGATTTTAGACAGGGGTTGGCAAACTTTTTCTGTAATGGGCCAACAATATTTTAGGGTTTGTAGGCCACATACAGTCTCTACATCATATTTGTTATCTTATTTTTTATAACCCTTTAGAAATAAAAAAACCACTGTTAGCTTGAGAGCTGTACAAAAATATACAGGGCCTGTAAGCCCTGTAGTTTGCAAATCCCTGTTCTAGAAGAAGTAATCACAACAAGGGAGTTGAAATTTTAAGAAACTGAATGAACTAATACTTTACTAGGCATTATTAATACTCTAGGTTTTTTTACATATGATTCTTGTCCACGTCTGCTTTTTCATTACTATTTGTTTTCTTTTTTTTTTCAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACGCACCACTACTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTTAGGCTGATCTTGAACTCCTGACCTCATAATCTGCCTGCCTTGGTCTCCCAAAGTTTTGGGATTACAAGCATGAGCCACCGCACCTGGCCTGTCCATGTCCACTTTTTCTTAAAGACACCTGAAGAAACTTAACCACTGCTCAGAAGCATTTTTCTCCCTCTTTCAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGGTAAGACACATACTTCTTGTCTTCTTGCTAGAGAAATACACTTTTCCTAGGTTCTTGAAAAAGATCAGGCAATTGAAGAAACAAGTTCAAGTACAGTCATGCACCACTTAACAATGGAGATATGTTCTAAGAAATGTGTTGTTAGGCAATTTTGTCATTGTGTGAACATTACATGGAGTGTACTTACACAAACATAGATGGATGATATAGTGTACTATACACATGATATAGTCTGTTGCTCCCAGGCTACAAACCTGTATGAGCAGGTGTTATACCGAATACTGTAGGCAGTTGTAAAACAGTGGTAAGTGTATCTAAACATAGAAAAGGTACTGTAAAAATATGGTATAAAAGATAAAAAATAGTATACCTGTATAGAGTACTTACCATGGATGGACTGGAAGTTGCTCTGGGTGAGTTAGTGGTGAGTGAATGTGAAGGTCTAGGACATTATTGTATACTAATGTAGACTTTATGTTGTATACTAATGTAGACTTTATAAACACTGTACACTTAGCCTACACTAAATTTATTTAAAAATATTTTTTCTACAATGATAAATTAACTTTAGCTTACTATAACTTTTTACTTTATAAACTTTAAAACTTTTTGGCTCTTTTGGGGTAATACTTAAAACACACAACAACATTGTACATTTGTACAAAAATAGTTTCTTTAGGTCCTTATTCTATAAGCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTGGTAGAGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCTACGACACCTGGCCCTTTATGCTATTCTTAAAACTTTTTATTTTTTTACTTTTAAACTTTTTTGTTAAAAACTACGATACACACACTACTACAGTGGTGGTACTAACATGTGGAATGTGTCCTTGCTGTCTTTTTTGGCATTCAGAGCTTTGTGACCCATCTAAGGTCTTTGTGACACACACACACACACACACACACACACACACACACGCACACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTGACTGGCAGCACAGTAGGTTTGTTTATACCAGCATCACTACAGATAGGTAAGTAATGCATTGCACTGTTTTGATTGCTATGACGTCACTGGGCAATAGGAATTTTTCCTCTTCATTATAATCTTAAGTGATCATCATCATTTATACAGCTGTCGACCAAAATGTCATTACAGGTGCATGAGTTTAAATGTTCCAGAAAGGTTTTATTCAGTATTAATCTTTTTATGGAATCTGAATATAATTACTGTGTTGGATTTGACTTCAGAAATGACTAGTAATGTTAAAAAATTGCTATGATTACCCATTTTTTAGTTTCTGGCTAGTGTTTTTTGGAATGGATGCTTAGGATTCCTGCCTAATGCAGTGATTTCAGGGCCAAAAGATGCTTTTGGAAGGATTGCTTGTAATCAAGCTAAAAGAGATGAAGAAGAGCTTGAGGATTTCTGTAAGGTGAATCAGGATGAGGGGAAGAAGCCTGGAAATAAACAAGATAAAGCAGAGCATAAATTCAGCTCATTAGAAACCAAAGATAAGGACCACTCACTTACTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCCCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCTATT
|
GGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAACCATTTGTATTTCCCTTTCTCTGTATCTTTGGTGACATACCATATGTGTTACAAACTTGCAGGCAGACAGTGGTAGTACTAACATGCAGAATGTATCCTTGGTGTCATCTTTTTTGGTATCCAGAGCTTTGTGACCCATCTAAGGTTTTTAATTTATACCCATGGCATTTATACCTATGGCAATGCACAGAACTAATTCATACTGGTATGACAAAGATTCATACCAGTTTTTTTTTTTCTTTTTTTAAGTGGAGTTTTGCTCTTATTGCCCAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCCCCGCTTTCCAGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTCGCTGGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTGTATTTCTAGTAGAGGTGGAGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTGCTGACCTCGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATACCAGTTTTTTTTGACACCGCTGATCCGAAGGCAGATACCAGTATGAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCGCCAAGGGTGGAGTGCAATGGCGTGACCTCGGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCTTCGGCCACCCAAAGTGCTGGGATTACATGCGTGAGCCACCGCGCCTGGCCACCAGTATGAATCTTGAAAGGTTCTCTTTCTTTTTCATCTGTGATAATACTTGGAAATCTTATCACACTTTTCTTAGCTTGCCTAGTTAGATTTTAGACAGGGGTTGGCAAACTTTTTCTGTAATGGGCCAACAATATTTTAGGGTTTGTAGGCCACATACAGTCTCTACATCATATTTGTTATCTTATTTTTTATAACCCTTTAGAAATAAAAAAACCACTGTTAGCTTGAGAGCTGTACAAAAATATACAGGGCCTGTAAGCCCTGTAGTTTGCAAATCCCTGTTCTAGAAGAAGTAATCACAACAAGGGAGTTGAAATTTTAAGAAACTGAATGAACTAATACTTTACTAGGCATTATTAATACTCTAGGTTTTTTTACATATGATTCTTGTCCACGTCTGCTTTTTCATTACTATTTGTTTTCTTTTTTTTTTCAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACGCACCACTACTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTTAGGCTGATCTTGAACTCCTGACCTCATAATCTGCCTGCCTTGGTCTCCCAAAGTTTTGGGATTACAAGCATGAGCCACCGCACCTGGCCTGTCCATGTCCACTTTTTCTTAAAGACACCTGAAGAAACTTAACCACTGCTCAGAAGCATTTTTCTCCCTCTTTCAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAAGTAAGACACATACTTCTTGTCTTCTTGCTAGAGAAATACACTTTTCCTAGGTTCTTGAAAAAGATCAGGCAATTGAAGAAACAAGTTCAAGTACAGTCATGCACCACTTAACAATGGAGATATGTTCTAAGAAATGTGTTGTTAGGCAATTTTGTCATTGTGTGAACATTACATGGAGTGTACTTACACAAACATAGATGGATGATATAGTGTACTATACACATGATATAGTCTGTTGCTCCCAGGCTACAAACCTGTATGAGCAGGTGTTATACCGAATACTGTAGGCAGTTGTAAAACAGTGGTAAGTGTATCTAAACATAGAAAAGGTACTGTAAAAATATGGTATAAAAGATAAAAAATAGTATACCTGTATAGAGTACTTACCATGGATGGACTGGAAGTTGCTCTGGGTGAGTTAGTGGTGAGTGAATGTGAAGGTCTAGGACATTATTGTATACTAATGTAGACTTTATGTTGTATACTAATGTAGACTTTATAAACACTGTACACTTAGCCTACACTAAATTTATTTAAAAATATTTTTTCTACAATGATAAATTAACTTTAGCTTACTATAACTTTTTACTTTATAAACTTTAAAACTTTTTGGCTCTTTTGGGGTAATACTTAAAACACACAACAACATTGTACATTTGTACAAAAATAGTTTCTTTAGGTCCTTATTCTATAAGCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTGGTAGAGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCTACGACACCTGGCCCTTTATGCTATTCTTAAAACTTTTTATTTTTTTACTTTTAAACTTTTTTGTTAAAAACTACGATACACACACTACTACAGTGGTGGTACTAACATGTGGAATGTGTCCTTGCTGTCTTTTTTGGCATTCAGAGCTTTGTGACCCATCTAAGGTCTTTGTGACACACACACACACACACACACACACACACACACACGCACACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTGACTGGCAGCACAGTAGGTTTGTTTATACCAGCATCACTACAGATAGGTAAGTAATGCATTGCACTGTTTTGATTGCTATGACGTCACTGGGCAATAGGAATTTTTCCTCTTCATTATAATCTTAAGTGATCATCATCATTTATACAGCTGTCGACCAAAATGTCATTACAGGTGCATGAGTTTAAATGTTCCAGAAAGGTTTTATTCAGTATTAATCTTTTTATGGAATCTGAATATAATTACTGTGTTGGATTTGACTTCAGAAATGACTAGTAATGTTAAAAAATTGCTATGATTACCCATTTTTTAGTTTCTGGCTAGTGTTTTTTGGAATGGATGCTTAGGATTCCTGCCTAATGCAGTGATTTCAGGGCCAAAAGATGCTTTTGGAAGGATTGCTTGTAATCAAGCTAAAAGAGATGAAGAAGAGCTTGAGGATTTCTGTAAGGTGAATCAGGATGAGGGGAAGAAGCCTGGAAATAAACAAGATAAAGCAGAGCATAAATTCAGCTCATTAGAAACCAAAGATAAGGACCACTCACTTACTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCCCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCTATT
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.