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_1700
|
This sequence variant lies in ASH1L (ASH1 like histone lysine methyltransferase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Intellectual disability, autosomal dominant 52
|
TTGCACATGACTGTAGTTAAGGCTGGGGTTTCAAAGCTAGTCAGTAAGCTATTGATTGAGCAAGCAAAACCAAATAAGTCTAGATGCGAGGAAAGACCTGGTGGTGGGCAGAGAATACAAAAGACGGTCTGGAAAATTAAAAAAAAAAAATAGGGAAAATAGGAACATATTGCTTTGTTTTCTGGTTAGCTTATTTTTCTTTCTTTTTATTTTTTGAGAGTCTTGTCCTGTTGCCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAATCTCTGCCTCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGACCAGGCTGGTCTCAATCTCCTGACTTTGTGATCCACCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCTGGTTAGATTATTGCTAAGGATTCCAGGGTGACAGCTATGACTTTTGACAGGCCCACTAAAAGAAGACTCAAAGATGAGGAGCTCAGCCAGGGTTTTATTAGAGCAAACAGATGAATGGATGATCAAAATCTTTATGGAATGATGAATGACAAAACGTATAATTGGCACACGGTTCTCAACAATTTGAAAGAAAAAATACCAGGAAAAAGCCTGACAATGAAAATGTTAATAATGGTTATTTTCTGGATAGTGGAGTATATATATAACTTTTTTCCTCTTATGCTTCTATACTTAATTTTTTTTTTTTTTTTGAGACAGGGTCTCTGTCACTCAGGCTGGAGTGCAGTGGCACAATCAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGGTGCTGAGATTACACACGTGAGCCACCATGATGTTTATACAATAAACACCACCACCACAAATTTTGTTTTGTTGTTGTTGTTGTTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCGCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAATGTTCACAATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACCTGCCACCACACCTGGCTAATTTGTTGTATTTTTAGTAGAGAGGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTCACAAATTTTATATAATGATCGTGTCTTCCATTTTTAATGCAGGCATAAAAAGAAAAAGCACTGAATTATTTTCTGTGAAGGTTCTTCTTTTACGGGTGTGTTCTCAATGAGAGAGAGGAAAAAAAGGAGTTTTTCAGGGTTCTTGCTTCTTAAAATTATGGGTGTGAAAGACAAAACAAAACAAAAATCTACAGAATGGGGCTCGCCAGCAAAGGTTAAACAGACGAAAGAGAAAAGAGGAAAGGTATAACACTATATCAACAATTTTCTGAGATACAGTCTATGTGAGGAAATGTACTTATGCTGTTCAAATGTCCCAAATAGAGACAGAGATATCCATAGTTTGGGATGGAATTTGGATGAAGAAGCAGAGAACTACGTGAAGATTTTCGCTCAGTGAATTTCATGCATGAACCAGATTGTCCTAACATGTAGTGTTAAGAAAGGAAGGAGACTCACCGAGAAATCTTTTTTGGGAGTGAGCTTCTTGGGGAAGTGATCAAAAGCATAGGGTTTGGTGCAGACAGGATAGCGGTTCCGGTGGATCTTGTAAAACAGGTGTGCTGACTTGTCAAGCCGATAATCACAGATGTACACATCTTGCTCCTTTACTCCTTTGGGTCTCCCTATGGGTCCAACCAGTGTTAAGGAATCCTATTTAGCCATTTCTCCCCCTGAGCTGCCCAAAGACCCCATACACACCAATGGGAGAGCAGCTAGACCCTTAAAACCCTACATGGTAGCTATGTAGAGAGGCAGGACAACTAAGCATTTGGTAGTTGCTGGACAAAGAGTTCTCAGACACTAGTGTCAACAAAGGATAAAGTAAATATACAGCAGAATGGATGGAAATAAACCAGAAATGTAAACTGAGTGCTGCAGGGATGTGTGAGGGAGTATTTTGAGGGAAAAACTGAGCAGGTTACGAGGAGTTACAAGAAAAGAACAGAGGCATAAATTTGAGGGAAGCACATTTGTACATGAACACTTTTTAACTGAGACAAGGAGGACTCATCAGTATCACACAGAACTGCAAGCAGTCTGTCAGTTTTGGAATGGAATACGTAGTCTTTTAGACTATTTTGCTATGATTCTGAGAGAACAGTCTAGGCAACTGAACTCTGCTAATAGTGACAAATAACATATATTGAGCTTTTACTCTAAGCCATAAACTAGGCTGAGTGCTTTTGTAGATTATTTTATATAATCTTTTAAGAACTCTTTAAAATAGATAGTCCTTATTTTCAATGGGAAACTGATACTTAGATTAAGTAAATTCCACAAAGGAACATAGATAAAATGTGGTAGAGCTGGAATTTGAAATTAGTACACAGTATTAACAAAATTAACTAAATTTAATAAAAAAGAATAAACTTTTATTGAGTACTAAGCCCTAGGTAAAAGAAAGGAAAAAATATAGTAGAGCTCTCTGAAGTTTCATAGCTAGCCTTGGAGAATCTTTCATCATATACAGGCAATCATATACAGGCAACAAGAATGGGGTGGGCAATGAACAGGAGACATGAGGTCATTGAAGTCTTTTTTTTTTTTTTGAGGCAGGGTTTCATTCTGTTGCACAGGTTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAGCAATCCTCCCAGTAGTTGGGACTACAGGCCTACACTGCCATGCCCAGCTACAGAGGCAGAGTTTTGCCACGTTGGCCAGGCTGGTCTCACACTCCTGGGCTTAAGCAATCTGCCTGCCTCGGCCTCCCACACCGCTGGGATTATCAGCGTGAGCCACTGCACTTGGCCGAGGTCATTTTTTAACTAGCCCAGATCACTTACCTTTACAATACGTATAAAGGTCCAACACACAGCAGGTCCCCACTACAGCCTCCAAGGGAATGATCTCATAGAGTGGCACCCGAAATAGTTCATTATGATAGAACCGACGGGATGGAGAGTGGTGTGTTTCGTGGGGACGGAAATAATGGTGACCAAAGGCAAACCGTTCCTCTCTAAAACAATGGAAAAGTGAGAAGGGAGAGGTTTAGCTGATTAGCAAGATCCTAGTGAACATTCAGCTCCACTGGTACAGCACGGCTGGAAGAAAAGGACAGGACCTCAGCACGTACTTTTCATTCTTCCAAAGCTTCTCAATGCGAAAGATGTCAAGTTTATCTCGGTTAATGTGAGATAACAGTCGATAGGACTGACGGACCGGGTGGCCATCAGGGGTGCGCCGACTATCCCTCATCAGATACACACAGTCACCTAGGAAGACCCAGAACACAGAAGAAACATAAAACAATTCTTGTATGAATTCTGTTAGGCATCTGTTTATCTGACTCAGGGTCTACATAGAACTCATAATCTGAAACAGTATAAATACAGAGAGCTAAAAGCAGCAGTGTTAAGTGATGATAATCAATTCTAGACTATGACAATAATATAAGGGAGGCATTCCATTTCTTGAGCTTCCTATATGTTTTTCCCAGTCTTAAAATTAGCTTTGTAACATGTCTATCATTTCAAATTAGTATTATTTGGTGGAGAGGTGATGCATGTAAGCACAAGGACTACAGATATAAAAACTTATATTCTATTGCTATTCGAGGC
|
TTGCACATGACTGTAGTTAAGGCTGGGGTTTCAAAGCTAGTCAGTAAGCTATTGATTGAGCAAGCAAAACCAAATAAGTCTAGATGCGAGGAAAGACCTGGTGGTGGGCAGAGAATACAAAAGACGGTCTGGAAAATTAAAAAAAAAAAATAGGGAAAATAGGAACATATTGCTTTGTTTTCTGGTTAGCTTATTTTTCTTTCTTTTTATTTTTTGAGAGTCTTGTCCTGTTGCCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAATCTCTGCCTCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGACCAGGCTGGTCTCAATCTCCTGACTTTGTGATCCACCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCTGGTTAGATTATTGCTAAGGATTCCAGGGTGACAGCTATGACTTTTGACAGGCCCACTAAAAGAAGACTCAAAGATGAGGAGCTCAGCCAGGGTTTTATTAGAGCAAACAGATGAATGGATGATCAAAATCTTTATGGAATGATGAATGACAAAACGTATAATTGGCACACGGTTCTCAACAATTTGAAAGAAAAAATACCAGGAAAAAGCCTGACAATGAAAATGTTAATAATGGTTATTTTCTGGATAGTGGAGTATATATATAACTTTTTTCCTCTTATGCTTCTATACTTAATTTTTTTTTTTTTTTTGAGACAGGGTCTCTGTCACTCAGGCTGGAGTGCAGTGGCACAATCAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGGTGCTGAGATTACACACGTGAGCCACCATGATGTTTATACAATAAACACCACCACCACAAATTTTGTTTTGTTGTTGTTGTTGTTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCGCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAATGTTCACAATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACCTGCCACCACACCTGGCTAATTTGTTGTATTTTTAGTAGAGAGGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTCACAAATTTTATATAATGATCGTGTCTTCCATTTTTAATGCAGGCATAAAAAGAAAAAGCACTGAATTATTTTCTGTGAAGGTTCTTCTTTTACGGGTGTGTTCTCAATGAGAGAGAGGAAAAAAAGGAGTTTTTCAGGGTTCTTGCTTCTTAAAATTATGGGTGTGAAAGACAAAACAAAACAAAAATCTACAGAATGGGGCTCGCCAGCAAAGGTTAAACAGACGAAAGAGAAAAGAGGAAAGGTATAACACTATATCAACAATTTTCTGAGATACAGTCTATGTGAGGAAATGTACTTATGCTGTTCAAATGTCCCAAATAGAGACAGAGATATCCATAGTTTGGGATGGAATTTGGATGAAGAAGCAGAGAACTACGTGAAGATTTTCGCTCAGTGAATTTCATGCATGAACCAGATTGTCCTAACATGTAGTGTTAAGAAAGGAAGGAGACTCACCGAGAAATCTTTTTTGGGAGTGAGCTTCTTGGGGAAGTGATCAAAAGCATAGGGTTTGGTGCAGACAGGATAGCGGTTCCGGTGGATCTTGTAAAACAGGTGTGGTGACTTGTCAAGCCGATAATCACAGATGTACACATCTTGCTCCTTTACTCCTTTGGGTCTCCCTATGGGTCCAACCAGTGTTAAGGAATCCTATTTAGCCATTTCTCCCCCTGAGCTGCCCAAAGACCCCATACACACCAATGGGAGAGCAGCTAGACCCTTAAAACCCTACATGGTAGCTATGTAGAGAGGCAGGACAACTAAGCATTTGGTAGTTGCTGGACAAAGAGTTCTCAGACACTAGTGTCAACAAAGGATAAAGTAAATATACAGCAGAATGGATGGAAATAAACCAGAAATGTAAACTGAGTGCTGCAGGGATGTGTGAGGGAGTATTTTGAGGGAAAAACTGAGCAGGTTACGAGGAGTTACAAGAAAAGAACAGAGGCATAAATTTGAGGGAAGCACATTTGTACATGAACACTTTTTAACTGAGACAAGGAGGACTCATCAGTATCACACAGAACTGCAAGCAGTCTGTCAGTTTTGGAATGGAATACGTAGTCTTTTAGACTATTTTGCTATGATTCTGAGAGAACAGTCTAGGCAACTGAACTCTGCTAATAGTGACAAATAACATATATTGAGCTTTTACTCTAAGCCATAAACTAGGCTGAGTGCTTTTGTAGATTATTTTATATAATCTTTTAAGAACTCTTTAAAATAGATAGTCCTTATTTTCAATGGGAAACTGATACTTAGATTAAGTAAATTCCACAAAGGAACATAGATAAAATGTGGTAGAGCTGGAATTTGAAATTAGTACACAGTATTAACAAAATTAACTAAATTTAATAAAAAAGAATAAACTTTTATTGAGTACTAAGCCCTAGGTAAAAGAAAGGAAAAAATATAGTAGAGCTCTCTGAAGTTTCATAGCTAGCCTTGGAGAATCTTTCATCATATACAGGCAATCATATACAGGCAACAAGAATGGGGTGGGCAATGAACAGGAGACATGAGGTCATTGAAGTCTTTTTTTTTTTTTTGAGGCAGGGTTTCATTCTGTTGCACAGGTTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAGCAATCCTCCCAGTAGTTGGGACTACAGGCCTACACTGCCATGCCCAGCTACAGAGGCAGAGTTTTGCCACGTTGGCCAGGCTGGTCTCACACTCCTGGGCTTAAGCAATCTGCCTGCCTCGGCCTCCCACACCGCTGGGATTATCAGCGTGAGCCACTGCACTTGGCCGAGGTCATTTTTTAACTAGCCCAGATCACTTACCTTTACAATACGTATAAAGGTCCAACACACAGCAGGTCCCCACTACAGCCTCCAAGGGAATGATCTCATAGAGTGGCACCCGAAATAGTTCATTATGATAGAACCGACGGGATGGAGAGTGGTGTGTTTCGTGGGGACGGAAATAATGGTGACCAAAGGCAAACCGTTCCTCTCTAAAACAATGGAAAAGTGAGAAGGGAGAGGTTTAGCTGATTAGCAAGATCCTAGTGAACATTCAGCTCCACTGGTACAGCACGGCTGGAAGAAAAGGACAGGACCTCAGCACGTACTTTTCATTCTTCCAAAGCTTCTCAATGCGAAAGATGTCAAGTTTATCTCGGTTAATGTGAGATAACAGTCGATAGGACTGACGGACCGGGTGGCCATCAGGGGTGCGCCGACTATCCCTCATCAGATACACACAGTCACCTAGGAAGACCCAGAACACAGAAGAAACATAAAACAATTCTTGTATGAATTCTGTTAGGCATCTGTTTATCTGACTCAGGGTCTACATAGAACTCATAATCTGAAACAGTATAAATACAGAGAGCTAAAAGCAGCAGTGTTAAGTGATGATAATCAATTCTAGACTATGACAATAATATAAGGGAGGCATTCCATTTCTTGAGCTTCCTATATGTTTTTCCCAGTCTTAAAATTAGCTTTGTAACATGTCTATCATTTCAAATTAGTATTATTTGGTGGAGAGGTGATGCATGTAAGCACAAGGACTACAGATATAAAAACTTATATTCTATTGCTATTCGAGGC
|
Task1_train_1701
|
A variant on Chromosome 1 in gene ASH1L (ASH1 like histone lysine methyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Intellectual disability, autosomal dominant 52
|
GACAGCTGACTAGAGATCAAAGAAGCTACTTTTGGCCATGAGAACTATCCAGAACAGGAAATACTGATGTAAAATTCACTGATTCTTTTTTATTTTGCTGCACATGTGCATTGTTACTAAAACAACAAATTCTATATCCACTCCTTTGTCTATTAGACATTTCTATTTTGAAATTTCAGTGCCGTTTAAAATTATATACTCTCTTGGCCAGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAAGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGCGCGACTCTGTCTCAAAAAAATAAATTAAAAAAATACAAAAATTAGCCAGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTAACAGAGCTAGACTCCATCTCAGAAAAAGAAAAAAAAAAAATTACAGACTCAAATCAAAGTCATAACTCATAATTCTTTTTTTTTGGGGGGGAGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCAGGACCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCACGTAGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTAATTCTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGACCTGCCTGCCTCAGCCTCCCAAAGTGCTTGGATTATAGGCATGAGCCACCATGCCAGCCAAATTCATAATTCTTATCTCCAATTCAGTTAGATTCCACACTTTATTTTCAGAGAGAGAATATATCCCCATATGAAGAGCATATCCCCTATATGCCGATGGTTTATCAACATACTTTTCTTCTAAAATATATTATGCCCTTCCTCTTCACTCTCACTGCCACTGTCCTATTCTGCTTCCTCATTGTGGCAACCATATATTGAGAGCTAGGAAGGTACCTAGGACTGTGCTTAATGTTTTATGAGCTGGGCACAGTATCACATACCTATAGTTCCAGCTACTCAGGAGGTTGAGGTAGGAGGACTACTTGAGCCCAGGAGTTTGAATCCAGCCTGGGCAACACAGTGAGACCCTATCTCTAAAAAAAACAAAACAAAACAAAACAAAAACCCCAAAACAAGAAAGCCAAAACTTCACAAACATTGTTTATCAACAGTCTCATATAATCTCCACAAACCCTCCATAGAGAAGGTAAGGTATTACTTTTATTAGATGCATTAAATAACTTTTCTCAGGTCTCATAAATAGTAAAAGGATTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGATTGAGATCATCCTGGCTAATACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGCAGTGCTGGCTACCAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAAAACAAAACAAAACAAAACAAAAAAAACAAACAAAAAAAAAGTAAAAGGATTTAAACCAACGAAGGCACACACAAGACTCTAAATCTCATTCATTTTCTGTTTCTGTATTCCGCCCACCCATTATGGTTTATATATCTTTGTGCAACTTCTTGAAAAAAATCAAAGAGCCTATTTAACTGTACCCTCCAAAGGAAGTGTTGTATGTATACCTTAAAGCCTATGCTTTAGAGAAATCAAAGCATGACAGTACCTATTGAGGCAGTCATCAACACAGCCCTTCCTGGTGTCATCATCTGGCTTCTTACAGTTACAGGTGGTAGCTTCGTAACCAGAAAGGGGTTTGACATCAACGTAGACATCTTGAAAAGAAAGCAAAGAATAGTTTGTGAACATACAGGATAATTTTTCAAGTGCTAGGCTCAGAAGAACATTAACGTATAGAGGCAGAAAAAATAGCTCCTAAGTTACTCACTTGAACGAATTTTCTTATATAGTGGGACATCTGGCTTTTTGTATAGCTAGAAGAAAAGAAGAAAAATCTTGATATAGCATTTAACTTCAAATGCCAGACGGCAGCATCAATCACTAAAAATACAGGAAATTTTCTATGTGCTCTGCTCATCTGGAAATATTTACAAGACATTTTGGGTTGGATACATTTGAGGGAAACTCTTGGTGTGATCTCTTTTTACTCTGAAATAAAAGGTGAGAGAATAAGATTCAACAGAAGAAGCACTAAATAGTTTATACAAGTGGAATTACATGTTTCTTCAGCATGTTGTTGGATAGACTTAAATGAAAATCACACTGGAGACCAAAGCTATTCATTTGGACAAATTAAGATTCTATTTGCTTCTATCAAAAGAAAGGAAAACAACATGCATAGGACTTACTTAGATGTCTGGGTGGGTACATGAAATTAAAAAGATGAGTACCCTGGCTTTTCAGGTTGAGAATTATAGGAAAACATTTCAAATTTTAATTAAGGCAATTAATTTAGTGAATAAAGGAGAGAGGGCAGGCAGGCAAAATGGAGCTCTCACATTATAATCAAGAAGATATTAGAAAGAAAAAAAAAAAGAATGCATTAGAAGAGAGGCAGTCTTCCAGCATTTTGCCATAAGGGACTGTACAAAACAAACAGCAACTTGCACAAAGCTAGACTGTTTATTAATATATTGGAATAATCCCACCATTATTTTCTAGTCAGTATGTTCAAAGCATTCTCTCCTTCATTGTTAAAAACTCTGAGACAAATACCTAACATATTAATACTCTCAGAATTCAAGAGAGGCCATTGGAGAAGACAACGCAGAGGGGAATGTCAATTTTGGCTTTCCAAAATAAACCTTTGGTGGCATTTTGGCAGAACTCAAGAAATCTATTCACCTCAATTGCATGACTATTTCTATTTCCCAATGGTTGTTCTCAATATGAGACCTGGGGGCTATAAGCTAATACAAAAATCACTACGGGAAACTTTTCAATTTGGGAAGCAAGAGAAAAAACACGGCATCTTCCTGTTTTTAGTTACCAATATATTTAAAGATTTTTTAAAAGTGCAAGAGTGTTAAACATTTCCCTGCTTCCTTTGATAGAAGAATCTCTTTTGCATGTGAAAAATAAATTTCAAACTGATAAGAAGGAGCCAACAAAAATAAAGTCTGAAATTTCTTAGTGCTGCTGGCAGTACATCTAAATTCTCCTGAGACCTGCATCAAATAGAATTCTTACAGAACAAAATCTTTGCTACCAAAATAAAAGTCCAGAATAACAACAGAAGGTTGCCTAGGAAAGCAGGAACTTACTGCTATTTTGCAGTAAGAGTAAAGGCAAATAGGTCACATTAAAGATGGATGCAAATTCATTTTTCTTAGTCCTAACCTTCACAGGGACACTTCTGAAAACCTCCTAAGATGAAAACATAACAAGGGGAGAGAAAAACACTTGCATTTCCACCCCTCCCCCTTTACCACTTAAGAATGAAACCTGGTAAAACAGGCTCTCTGTACCTGATTGTGTTTCCACTGCCAAAGGATATCATAAGGAAGCTGGAAGTCAATTCTCTTTTGTCTTAGATACTTTCCTGAAACAAAAAACACTATTAATTTCAATACCTTTTCTAATATTTGCTTATACAAAGGTGTCAAACAGCTACAAGAACTAACATGTACTGACTAAAAAAATAAAGATTTAATTCTTTAAGGATTTTTCCATCACCAATTTTTAATTTTAGCTCTTCTTTCCCACTATACTCCACACGATATATGCCGAAGATATATTTTAAGTATAATAGTCTACATAAAACAACAAATACAGCAAAACTACAACCAAAAACACACAGGTCATTATGAAGCTTATTAAATATTTTATTATTATTAAAAATTATTAA
|
GACAGCTGACTAGAGATCAAAGAAGCTACTTTTGGCCATGAGAACTATCCAGAACAGGAAATACTGATGTAAAATTCACTGATTCTTTTTTATTTTGCTGCACATGTGCATTGTTACTAAAACAACAAATTCTATATCCACTCCTTTGTCTATTAGACATTTCTATTTTGAAATTTCAGTGCCGTTTAAAATTATATACTCTCTTGGCCAGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAAGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGCGCGACTCTGTCTCAAAAAAATAAATTAAAAAAATACAAAAATTAGCCAGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTAACAGAGCTAGACTCCATCTCAGAAAAAGAAAAAAAAAAAATTACAGACTCAAATCAAAGTCATAACTCATAATTCTTTTTTTTTGGGGGGGAGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCAGGACCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCACGTAGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTAATTCTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGACCTGCCTGCCTCAGCCTCCCAAAGTGCTTGGATTATAGGCATGAGCCACCATGCCAGCCAAATTCATAATTCTTATCTCCAATTCAGTTAGATTCCACACTTTATTTTCAGAGAGAGAATATATCCCCATATGAAGAGCATATCCCCTATATGCCGATGGTTTATCAACATACTTTTCTTCTAAAATATATTATGCCCTTCCTCTTCACTCTCACTGCCACTGTCCTATTCTGCTTCCTCATTGTGGCAACCATATATTGAGAGCTAGGAAGGTACCTAGGACTGTGCTTAATGTTTTATGAGCTGGGCACAGTATCACATACCTATAGTTCCAGCTACTCAGGAGGTTGAGGTAGGAGGACTACTTGAGCCCAGGAGTTTGAATCCAGCCTGGGCAACACAGTGAGACCCTATCTCTAAAAAAAACAAAACAAAACAAAACAAAAACCCCAAAACAAGAAAGCCAAAACTTCACAAACATTGTTTATCAACAGTCTCATATAATCTCCACAAACCCTCCATAGAGAAGGTAAGGTATTACTTTTATTAGATGCATTAAATAACTTTTCTCAGGTCTCATAAATAGTAAAAGGATTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGATTGAGATCATCCTGGCTAATACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGCAGTGCTGGCTACCAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAAAACAAAACAAAACAAAACAAAAAAAACAAACAAAAAAAAAGTAAAAGGATTTAAACCAACGAAGGCACACACAAGACTCTAAATCTCATTCATTTTCTGTTTCTGTATTCCGCCCACCCATTATGGTTTATATATCTTTGTGCAACTTCTTGAAAAAAATCAAAGAGCCTATTTAACTGTACCCTCCAAAGGAAGTGTTGTATGTATACCTTAAAGCCTATGCTTTAGAGAAATCAAAGCATGACAGTACCTATTGAGGCAGTCATCAACACAGCCCTTCCTGGTGTCATCATCTGGCTTCTTACAGTTACAGGTGGTAGCTTCGTAACCAGAAAGGGGTTTGATATCAACGTAGACATCTTGAAAAGAAAGCAAAGAATAGTTTGTGAACATACAGGATAATTTTTCAAGTGCTAGGCTCAGAAGAACATTAACGTATAGAGGCAGAAAAAATAGCTCCTAAGTTACTCACTTGAACGAATTTTCTTATATAGTGGGACATCTGGCTTTTTGTATAGCTAGAAGAAAAGAAGAAAAATCTTGATATAGCATTTAACTTCAAATGCCAGACGGCAGCATCAATCACTAAAAATACAGGAAATTTTCTATGTGCTCTGCTCATCTGGAAATATTTACAAGACATTTTGGGTTGGATACATTTGAGGGAAACTCTTGGTGTGATCTCTTTTTACTCTGAAATAAAAGGTGAGAGAATAAGATTCAACAGAAGAAGCACTAAATAGTTTATACAAGTGGAATTACATGTTTCTTCAGCATGTTGTTGGATAGACTTAAATGAAAATCACACTGGAGACCAAAGCTATTCATTTGGACAAATTAAGATTCTATTTGCTTCTATCAAAAGAAAGGAAAACAACATGCATAGGACTTACTTAGATGTCTGGGTGGGTACATGAAATTAAAAAGATGAGTACCCTGGCTTTTCAGGTTGAGAATTATAGGAAAACATTTCAAATTTTAATTAAGGCAATTAATTTAGTGAATAAAGGAGAGAGGGCAGGCAGGCAAAATGGAGCTCTCACATTATAATCAAGAAGATATTAGAAAGAAAAAAAAAAAGAATGCATTAGAAGAGAGGCAGTCTTCCAGCATTTTGCCATAAGGGACTGTACAAAACAAACAGCAACTTGCACAAAGCTAGACTGTTTATTAATATATTGGAATAATCCCACCATTATTTTCTAGTCAGTATGTTCAAAGCATTCTCTCCTTCATTGTTAAAAACTCTGAGACAAATACCTAACATATTAATACTCTCAGAATTCAAGAGAGGCCATTGGAGAAGACAACGCAGAGGGGAATGTCAATTTTGGCTTTCCAAAATAAACCTTTGGTGGCATTTTGGCAGAACTCAAGAAATCTATTCACCTCAATTGCATGACTATTTCTATTTCCCAATGGTTGTTCTCAATATGAGACCTGGGGGCTATAAGCTAATACAAAAATCACTACGGGAAACTTTTCAATTTGGGAAGCAAGAGAAAAAACACGGCATCTTCCTGTTTTTAGTTACCAATATATTTAAAGATTTTTTAAAAGTGCAAGAGTGTTAAACATTTCCCTGCTTCCTTTGATAGAAGAATCTCTTTTGCATGTGAAAAATAAATTTCAAACTGATAAGAAGGAGCCAACAAAAATAAAGTCTGAAATTTCTTAGTGCTGCTGGCAGTACATCTAAATTCTCCTGAGACCTGCATCAAATAGAATTCTTACAGAACAAAATCTTTGCTACCAAAATAAAAGTCCAGAATAACAACAGAAGGTTGCCTAGGAAAGCAGGAACTTACTGCTATTTTGCAGTAAGAGTAAAGGCAAATAGGTCACATTAAAGATGGATGCAAATTCATTTTTCTTAGTCCTAACCTTCACAGGGACACTTCTGAAAACCTCCTAAGATGAAAACATAACAAGGGGAGAGAAAAACACTTGCATTTCCACCCCTCCCCCTTTACCACTTAAGAATGAAACCTGGTAAAACAGGCTCTCTGTACCTGATTGTGTTTCCACTGCCAAAGGATATCATAAGGAAGCTGGAAGTCAATTCTCTTTTGTCTTAGATACTTTCCTGAAACAAAAAACACTATTAATTTCAATACCTTTTCTAATATTTGCTTATACAAAGGTGTCAAACAGCTACAAGAACTAACATGTACTGACTAAAAAAATAAAGATTTAATTCTTTAAGGATTTTTCCATCACCAATTTTTAATTTTAGCTCTTCTTTCCCACTATACTCCACACGATATATGCCGAAGATATATTTTAAGTATAATAGTCTACATAAAACAACAAATACAGCAAAACTACAACCAAAAACACACAGGTCATTATGAAGCTTATTAAATATTTTATTATTATTAAAAATTATTAA
|
Task1_train_1702
|
Here is a mutation in ASH1L (ASH1 like histone lysine methyltransferase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Intellectual disability, autosomal dominant 52
|
GGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGCCACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTA
|
GGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGACACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTA
|
Task1_train_1703
|
Gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
|
TCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTT
|
TCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATTGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTT
|
Task1_train_1704
|
The gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
|
TCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTA
|
TCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTACCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTA
|
Task1_train_1705
|
This sequence variant lies in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; RASopathy
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
Task1_train_1706
|
A genomic change on Chromosome 1 affects RIT1 (Ras like without CAAX 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Cardiovascular phenotype
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
Task1_train_1707
|
This genomic variant is located on Chromosome 1, within the RIT1 (Ras like without CAAX 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Noonan syndrome and Noonan-related syndrome
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
Task1_train_1708
|
The following genetic variant occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Noonan syndrome 8
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
Task1_train_1709
|
A genomic change on Chromosome 1 affects RIT1 (Ras like without CAAX 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Noonan syndrome
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
|
Task1_train_1710
|
Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Inborn genetic diseases
|
GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
|
GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTAATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
|
Task1_train_1711
|
A genetic alteration is present in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Noonan syndrome 8
|
GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
|
GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTAATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
|
Task1_train_1712
|
Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; RASopathy
|
GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
|
GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTAATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
|
Task1_train_1713
|
This genomic variant is located on Chromosome 1, within the RIT1 (Ras like without CAAX 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; RASopathy
|
TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTG
|
TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCACATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTG
|
Task1_train_1714
|
This variant lies on Chromosome 1 and affects the gene RIT1 (Ras like without CAAX 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Noonan syndrome and Noonan-related syndrome
|
TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
|
TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATGCTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
|
Task1_train_1715
|
A mutation found in RIT1 (Ras like without CAAX 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Noonan syndrome 8
|
TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
|
TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATGCTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
|
Task1_train_1716
|
This variant lies on Chromosome 1 and affects the gene RIT1 (Ras like without CAAX 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Inborn genetic diseases
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
Task1_train_1717
|
This sequence change occurs on Chromosome 1, altering RIT1 (Ras like without CAAX 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Noonan syndrome 1
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
Task1_train_1718
|
Here is a genetic alteration in RIT1 (Ras like without CAAX 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Noonan syndrome 8
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
Task1_train_1719
|
Located on Chromosome 1, this mutation impacts RIT1 (Ras like without CAAX 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; RASopathy
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
|
Task1_train_1720
|
The following genetic variant occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Noonan syndrome 1
|
GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
|
GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTTAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
|
Task1_train_1721
|
A variant has been detected on Chromosome 1 in RIT1 (Ras like without CAAX 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Cardiovascular phenotype
|
GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
|
GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTTAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
|
Task1_train_1722
|
This genomic variant is located on Chromosome 1, within the RIT1 (Ras like without CAAX 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Noonan syndrome 8
|
GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
|
GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTTAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
|
Task1_train_1723
|
This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; RIT1-related disorder
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTACACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
Task1_train_1724
|
Given a variant located on Chromosome 1 and affecting RIT1 (Ras like without CAAX 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; RASopathy
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTACACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
Task1_train_1725
|
The gene RIT1 (Ras like without CAAX 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Noonan syndrome 8
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTACACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
Task1_train_1726
|
This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Noonan syndrome 1
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAGACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
|
Task1_train_1727
|
An alteration has been detected in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Noonan syndrome 8
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1728
|
Chromosome 1 houses a mutation in gene RIT1 (Ras like without CAAX 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; RASopathy
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1729
|
Consider this mutation in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
|
Pathogenic; Cardiovascular phenotype
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1730
|
The variant affects gene RIT1 (Ras like without CAAX 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Noonan syndrome and Noonan-related syndrome
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1731
|
This variant affects the gene RIT1 (Ras like without CAAX 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; RASopathy
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAGCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1732
|
The gene RIT1 (Ras like without CAAX 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Noonan syndrome and Noonan-related syndrome
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAGCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1733
|
This alteration occurs within gene RIT1 (Ras like without CAAX 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Noonan syndrome 8
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAGCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1734
|
Assess the clinical impact of this variant on gene RIT1 (Ras like without CAAX 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Noonan syndrome 8
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAATCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
|
Task1_train_1735
|
Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Noonan syndrome
|
GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
|
GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTGTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
|
Task1_train_1736
|
Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Neoplasm
|
GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
|
GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTGTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
|
Task1_train_1737
|
Gene RIT1 (Ras like without CAAX 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Noonan syndrome 8
|
ATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGA
|
ATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGATGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGA
|
Task1_train_1738
|
Given this variant in gene RIT1 (Ras like without CAAX 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; RASopathy
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1739
|
A variant was discovered on Chromosome 1, affecting RIT1 (Ras like without CAAX 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Noonan syndrome 1
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1740
|
The following genetic variant occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Noonan syndrome and Noonan-related syndrome
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1741
|
This mutation is located in gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Noonan syndrome
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1742
|
Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Noonan syndrome 8
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1743
|
Given a variant located on Chromosome 1 and affecting RIT1 (Ras like without CAAX 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; RIT1-related disorder
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1744
|
Given a variant located on Chromosome 1 and affecting RIT1 (Ras like without CAAX 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Cardiovascular phenotype
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
|
Task1_train_1745
|
Consider a variant on Chromosome 1 in gene RIT1 (Ras like without CAAX 1). Determine its clinical classification and disease relevance.
|
Pathogenic; RASopathy
|
TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
|
TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCAGTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
|
Task1_train_1746
|
This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Noonan syndrome 8
|
TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
|
TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCAGTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
|
Task1_train_1747
|
This variant affects the gene RIT1 (Ras like without CAAX 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Noonan syndrome
|
TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
|
TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCAGTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
|
Task1_train_1748
|
Gene RIT1 (Ras like without CAAX 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; RIT1-related disorder
|
CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
|
CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACGACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
|
Task1_train_1749
|
A variant was discovered in gene RIT1 (Ras like without CAAX 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Noonan syndrome 8
|
CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
|
CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACGACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
|
Task1_train_1750
|
Here is a genetic alteration in RIT1 (Ras like without CAAX 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Noonan syndrome 1
|
CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
|
CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACGACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
|
Task1_train_1751
|
This sequence variant lies in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Noonan syndrome 8
|
CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
|
CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGGTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
|
Task1_train_1752
|
A sequence alteration has been identified in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it disease-inducing or harmless?
|
Pathogenic; Noonan syndrome 1
|
CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
|
CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGGTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
|
Task1_train_1753
|
This mutation occurs in RIT1 (Ras like without CAAX 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Noonan syndrome 8
|
CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCTTT
|
CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTCGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCTTT
|
Task1_train_1754
|
The variant affects gene LMNA (lamin A/C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
CTTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGT
|
CTTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCTTGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGT
|
Task1_train_1755
|
Assess the clinical impact of this variant on gene LMNA (lamin A/C), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Cardiovascular phenotype
|
TTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTG
|
TTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCAAGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTG
|
Task1_train_1756
|
A mutation on Chromosome 1 affecting LMNA (lamin A/C) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
|
TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATAGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
|
Task1_train_1757
|
A genomic change on Chromosome 1 affects LMNA (lamin A/C). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; See cases
|
TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
|
TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATAGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
|
Task1_train_1758
|
An alteration has been detected in LMNA (lamin A/C) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
|
TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
|
TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATCGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
|
Task1_train_1759
|
Gene LMNA (lamin A/C) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
TACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGC
|
TACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCGGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGC
|
Task1_train_1760
|
The variant affects gene LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG
|
GGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCTGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG
|
Task1_train_1761
|
This variant impacts the gene LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAA
|
GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGAAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAA
|
Task1_train_1762
|
The following genetic variant occurs in LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAG
|
GCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGGGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAG
|
Task1_train_1763
|
Mutation context: Chromosome 1, Gene LMNA, LOC129931597 (lamin A/C| ATAC-STARR-seq lymphoblastoid silent region 1421). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTG
|
GGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGGGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTG
|
Task1_train_1764
|
A variant was discovered on Chromosome 1, affecting LMNA (lamin A/C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; LMNA-related disorder
|
CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
|
CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAGTGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
|
Task1_train_1765
|
The gene LMNA (lamin A/C) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
|
CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAGTGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
|
Task1_train_1766
|
A variant was discovered on Chromosome 1, affecting LMNA (lamin A/C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
|
CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAGTGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
|
Task1_train_1767
|
The gene LMNA (lamin A/C), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
TGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTT
|
TGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAAAGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTT
|
Task1_train_1768
|
Here’s a variant in LMNA (lamin A/C) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
CCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTT
|
CCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCACTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTT
|
Task1_train_1769
|
Gene LMNA (lamin A/C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
AGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTT
|
AGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGAGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTT
|
Task1_train_1770
|
A variant on Chromosome 1 in gene LMNA (lamin A/C) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Familial partial lipodystrophy, Dunnigan type
|
GGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAA
|
GGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCTACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAA
|
Task1_train_1771
|
Here is a genetic alteration in LMNA (lamin A/C) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
AATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTT
|
AATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACCCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTT
|
Task1_train_1772
|
A mutation in LMNA (lamin A/C), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
GAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGG
|
GAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCGGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGG
|
Task1_train_1773
|
Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Familial partial lipodystrophy, Dunnigan type
|
ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
|
ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGGGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
|
Task1_train_1774
|
Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Dilated cardiomyopathy 1A
|
ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
|
ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGGGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
|
Task1_train_1775
|
Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Familial partial lipodystrophy, Dunnigan type
|
GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
|
GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTGGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
|
Task1_train_1776
|
The gene LMNA (lamin A/C) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
|
GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTGGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
|
Task1_train_1777
|
A sequence alteration has been identified in LMNA (lamin A/C) on Chromosome 1. Is it disease-inducing or harmless?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGA
|
GCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGGGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGA
|
Task1_train_1778
|
This gene mutation involves LMNA (lamin A/C) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
TTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATG
|
TTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGTGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATG
|
Task1_train_1779
|
Located on Chromosome 1, this mutation impacts LMNA (lamin A/C). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
|
GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACAAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
|
Task1_train_1780
|
Mutation context: Chromosome 1, Gene LMNA (lamin A/C). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Primary dilated cardiomyopathy
|
GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
|
GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACAAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
|
Task1_train_1781
|
The gene LMNA (lamin A/C) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Cardiovascular phenotype
|
AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
|
AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCTCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
|
Task1_train_1782
|
Here is a variant affecting LMNA (lamin A/C) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
|
AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCTCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
|
Task1_train_1783
|
With a mutation on Chromosome 1 in gene LMNA (lamin A/C), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
AAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTA
|
AAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCCTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTA
|
Task1_train_1784
|
Chromosome 1 houses a mutation in gene LMNA (lamin A/C). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
AAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTG
|
AAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACCCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTG
|
Task1_train_1785
|
Located on Chromosome 1, this mutation impacts LMNA (lamin A/C). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCT
|
CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCCGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCT
|
Task1_train_1786
|
Here is a mutation in LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTT
|
GGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTT
|
Task1_train_1787
|
This mutation is located in gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; not provided
|
TGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGG
|
TGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGAAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGG
|
Task1_train_1788
|
This variant affects the gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Hutchinson-Gilford progeria syndrome, childhood-onset
|
GGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAG
|
GGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCGGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAG
|
Task1_train_1789
|
Given this variant in gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCT
|
GGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCCGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCT
|
Task1_train_1790
|
A variant has been detected on Chromosome 1 in LOC126805877, LMNA (MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892| lamin A/C). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Congenital muscular dystrophy due to LMNA mutation
|
CTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGT
|
CTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTTCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGT
|
Task1_train_1791
|
A variant affecting Chromosome 1, within the gene LMNA, LOC126805877 (lamin A/C| MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGT
|
GATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCACGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGT
|
Task1_train_1792
|
Gene LOC126805877, LMNA (MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892| lamin A/C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Hutchinson-Gilford progeria syndrome, atypical
|
TCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTAC
|
TCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGAAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTAC
|
Task1_train_1793
|
With a mutation on Chromosome 1 in gene LMNA (lamin A/C), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; LMNA-related disorder
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
Task1_train_1794
|
The variant affects gene LMNA (lamin A/C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
Task1_train_1795
|
Gene LMNA (lamin A/C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Cardiovascular phenotype
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
Task1_train_1796
|
Gene LMNA (lamin A/C) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Primary dilated cardiomyopathy
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
|
Task1_train_1797
|
A change on Chromosome 1 affects gene LMNA (lamin A/C). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
|
GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAAGAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
|
Task1_train_1798
|
This is a variant in LMNA (lamin A/C), located on Chromosome 1. Is this mutation a likely cause of disease or not?
|
Pathogenic; Primary dilated cardiomyopathy
|
GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
|
GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAAGAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
|
Task1_train_1799
|
Here is a mutation in LMNA (lamin A/C) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Charcot-Marie-Tooth disease type 2
|
AACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGA
|
AACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGGACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGA
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.