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
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GGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGACACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTA
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Task1_train_1703
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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?
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Pathogenic; not provided
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TCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTT
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TCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATTGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTT
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Task1_train_1704
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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?
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Pathogenic; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
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TCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTA
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TCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTACCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTA
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Task1_train_1705
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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?
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Pathogenic; RASopathy
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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Task1_train_1706
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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.
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Pathogenic; Cardiovascular phenotype
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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Task1_train_1707
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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?
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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Task1_train_1708
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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.
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Pathogenic; Noonan syndrome 8
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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Task1_train_1709
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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.
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Pathogenic; Noonan syndrome
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACGCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTG
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Task1_train_1710
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Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Inborn genetic diseases
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GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
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GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTAATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
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Task1_train_1711
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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?
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Pathogenic; Noonan syndrome 8
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GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
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GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTAATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
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Task1_train_1712
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Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; RASopathy
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GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
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GCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTAATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTT
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Task1_train_1713
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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?
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Pathogenic; RASopathy
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TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTG
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TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCACATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTG
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Task1_train_1714
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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?
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
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TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATGCTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
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Task1_train_1715
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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?
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Pathogenic; Noonan syndrome 8
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TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
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TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATGCTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA
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Task1_train_1716
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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?
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Pathogenic; Inborn genetic diseases
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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Task1_train_1717
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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?
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Pathogenic; Noonan syndrome 1
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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Task1_train_1718
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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?
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Pathogenic; Noonan syndrome 8
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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Task1_train_1719
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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?
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Pathogenic; RASopathy
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGGAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATC
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Task1_train_1720
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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.
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Pathogenic; Noonan syndrome 1
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GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
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GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTTAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
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Task1_train_1721
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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.
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Pathogenic; Cardiovascular phenotype
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GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
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GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTTAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
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Task1_train_1722
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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?
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Pathogenic; Noonan syndrome 8
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GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
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GAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTTAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCA
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Task1_train_1723
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This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; RIT1-related disorder
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTACACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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Task1_train_1724
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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.
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Pathogenic; RASopathy
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTACACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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Task1_train_1725
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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?
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Pathogenic; Noonan syndrome 8
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTACACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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Task1_train_1726
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This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Noonan syndrome 1
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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AATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAGACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCAC
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Task1_train_1727
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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?
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Pathogenic; Noonan syndrome 8
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1728
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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?
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Pathogenic; RASopathy
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1729
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Consider this mutation in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Cardiovascular phenotype
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1730
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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.
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAACCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1731
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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.
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Pathogenic; RASopathy
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAGCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1732
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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?
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAGCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1733
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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?
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Pathogenic; Noonan syndrome 8
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAGCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1734
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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.
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Pathogenic; Noonan syndrome 8
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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ATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAATCTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC
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Task1_train_1735
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Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Noonan syndrome
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GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
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GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTGTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
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Task1_train_1736
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Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neoplasm
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GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
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GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCATGCCACTGCACTCCAGCCTGGGTGATAAGAGTGAAACTCTGTCTAAAAAACAACACAAAACAAAAAAACGCTGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGATGTCAGGACTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTGTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGA
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Task1_train_1737
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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?
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Pathogenic; Noonan syndrome 8
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ATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGA
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ATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGATGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGA
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Task1_train_1738
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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.
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Pathogenic; RASopathy
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1739
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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.
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Pathogenic; Noonan syndrome 1
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1740
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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.
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Pathogenic; Noonan syndrome and Noonan-related syndrome
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1741
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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?
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Pathogenic; Noonan syndrome
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1742
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Gene RIT1 (Ras like without CAAX 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Noonan syndrome 8
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1743
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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.
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Pathogenic; RIT1-related disorder
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1744
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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
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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AGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAACCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAGAAAGAAAATACCAGAGTGGGTGAGGTACAGTGGCTCTCACGC
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Task1_train_1745
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Consider a variant on Chromosome 1 in gene RIT1 (Ras like without CAAX 1). Determine its clinical classification and disease relevance.
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Pathogenic; RASopathy
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TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
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TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCAGTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
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Task1_train_1746
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This variant impacts the gene RIT1 (Ras like without CAAX 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Noonan syndrome 8
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TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
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TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCAGTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
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Task1_train_1747
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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.
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Pathogenic; Noonan syndrome
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TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
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TGGAGTGTGATGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCAGTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAG
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Task1_train_1748
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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.
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Pathogenic; RIT1-related disorder
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CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
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CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACGACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
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Task1_train_1749
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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.
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Pathogenic; Noonan syndrome 8
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CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
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CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACGACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
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Task1_train_1750
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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?
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Pathogenic; Noonan syndrome 1
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CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
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CACTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACGACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT
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Task1_train_1751
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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?
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Pathogenic; Noonan syndrome 8
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CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
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CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGGTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
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Task1_train_1752
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A sequence alteration has been identified in RIT1 (Ras like without CAAX 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Noonan syndrome 1
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CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
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CTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGGTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCT
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Task1_train_1753
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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?
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Pathogenic; Noonan syndrome 8
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CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTTGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCTTT
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CCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCGCAGTAGCTGGGATTACAGGCACCCAGCACCACGCCCGGCTAGTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGCTCCACCCGCCTCGACCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAATCTCTGAACAGTGTTCTAAATTTGATATAGTACATGAAAAAGTCAAGACTTTTTCTATTTTTCCCATCCCTGGAATCATGTGCTCTATGAAATGACCATATCAAAGCTGGGCCACCACAAAACATTATTGGCTTTGCGGGAAACAGAGCAGCAGAGGCCTGACCCAATGGAAATCCTTCCTAGAGAACTAGGATCATGGCAAAGAGTGTCACATACTGAAAATAATAAGGCCCGGCGCAGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAATCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCTTGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGTAGTGAGCCGAGATTGTGCCACCGCACTCCAGCCCGGGCAACAGGGTGAGACACCGTCTCCAAAAAAAAAAACAAAAAAAGAAAATAACAGTACAGCTGACTTTCTGTGCCCTCTCCCATTCCCACATCCATTTTTCTTTCATATTAGGATATAAACCCTTAGAATCAAACCTGCTTCCTTATGGTTTAGGAATGACAGTAATGTTCTTAGTCTTTGTAGAGATTAGCAATTAAAAAATAAAAAAGTCAAAGCAAACAAAATGACTTTTTTACTCTATTAGCGTTCTGCAACAAGAGTTAAGGACCATAAAAGACATCGGAGGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGTACTTTTCGAGGCTGAGGTGGATGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGACCGGAGATCGCACCATTGCCCTCCAGCCTGGGAGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAACAACAGACAGACATGGGAGAAGACATTACTACGTAATGAACTTAAGGTATAAGGAAGTAAACCAAGAGCTCCAAGTGCAAGATGTCCAGGCTTGGCATGTCTGGGTTGTAAGAGTTCAGCAGCCTGGCTCTACTTGTTTCTCTGCTTCCTTTTGTGGAAGTTCAAACCAGCTGACTCACAGTTACAGAGCGAGTCTCAAGTCATACCCTTAGAGAAGTGACAGCAAGAAAAGGCTTCGTTAAGTGGCCTGTATACAACCATAAAAAAATACAACAAAGAGAGTTGTCCCATTAATGTTCAGTAAGAGACAAAGACTAAAGATGGCTTATGACATAAAGTCTGAAAAAAAAAGAAATATTCAGTTGCTTACCAACTGCTGATACCCTTGTTTCTAAATAAATCTGAATTAGACTCCAAAAAAGCCTCAAAATATAAATAGTTAGAAACTACTGATATTCATTAAGATATTTTTATGGGGTATATTTGGAAACATAAGTGATGATCTGGCTTACCAATGGTGGGATCATGATCTTCTGGGAATCGGTGGCTGATGAACTGCATGGTCATGGCTTCAAAAGAAGAAATAAAAGTCAAATCCTCACAAAGGTGACCCACAGAGAGAATTTTAAGTATTAACATTGCAAGATAGCAAGTATCCCATCTGGTCATTTAAGTACTTTTCATCCATGCTTCCTGTCAAATGGAAAATGTTACCTACCACTCTTCCCTACACCACCAGCACCCAGCATCACTAGTTCGTACTCCCGTGAGAGCCCAGCGGGGCTGCTACAGCAGCTACCAACTGGGCGAGTTCCAGAATCCATTGTCCTCTTGGGGCCTTCCTCGGTTGCCCCGAGGAAAAGCCACCTAGAAAAGGAGGAGGAAATGCTTAATCCAGGATGGAGACACCACGGCGACAGCCCTCAAGCCAGTGCCTTACCTTTCCATACATATTCTGGCCTGTCCCTCTTACTCTGGCCTGTCCCTCTTGCTCACCACTGCACCCTTTCGGGTGGCCCTAAGAAACCCCCCCATCTTCACCCTCCCTCCTAGACAGTTCAGTCACATGACACATCACAGGTTTTACTTTTTCCAAAGAGAAAAATAAAAAGATACAAATAAATTTACGTCTCGGCACAGTAGGGACAAGGAGAAAGTTTTGGGAAGAAAGGGATGCGGCCCCTTAGGCCGCAGGGGTTCTCTCACGTCTGCGGTACCCAGAGGTTCCGCCCCCTCCCCATTCTCCTCCGAACCCCCTCCCCACCCCCAGCTGCTGCTCCGCCGCCAGACTCCCCACCCCTCTACCTCACAAGCCGACGCCCTGCTGCTCCTACTGGTCAGTGGGGACTGGAACACCACAGCCGGTCGGGTCACGCACTTCGTCTTCCTTCACTCGCGGAGGCTCCGGCACTGACCTGTGACCCCTCCCGCAACCGAGTAAGATGGCGCCACCGGCGCCCGAGTCGCGGAAGGAGGGGCGGGGCCACTCAGTGACGCCCACAGCCTGCCCCGCCCTCTTCCCGCCCCTCCCAGGTCCCTAAAACCCAGTTCCGGGACCCACCGCTGAAGGTCCTCTGGTCACCTACCCAACCTAGGGTGTATGCACTCACAGACAAGGGTATTTAATCACGAGTAGAAAGTAAATTATTTACACAAAAGGGAAGGGAGTACGTGATAAGAGACATGCAGGGACACTTAAATTAACAACTTACCGAGGGTTGTTTGCTGCTTGTGGGAAAAAAAAAAACCCAAAACTAATTTGACCCAATGTAATGAGAGGAAGGGAGGACAGGGGCACCCCCCAAATCCTCCTAAAACACAGGATTTCAGTCAAGTCTACCGGGGATGACTACTCATAGGAGAAAAATGACTTTCCTAAAGGAGCGGCCACAATGACTTTTGCTATTGAAACCTAAATTCATTCTCAGAAACCAGATGTTCACAACACTCCCTAATCAGAGTTCTGTATGTATTTTAAACACGTATAAGACACACAAAAACTTGTTTTAAATAAATGTACCACACTCTGGCAGGAAAGAGAGCTCTGAGTTAACAGAGGCCTTGAGTTAAATACAGAACTGAAGCGCAGCCACTATAACCATATTCCCCTCTATTTACGTAGCACAGGTGCTAGAAGAAACTGACACGAAAATTGTTCTCATGCAGCTCTGCCTACCACTGTTCTTTTTAAATGTCTTTCTGGGCCGGGCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGAGTCATGAGGTCAAGAAATAAGAGACCATCCTGGCCAACATGTAAAACCGTCTCTACTAAAAATACAAAAGAATTAGCTGGGTGTGGTGGCATGCGCCTATAAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTTAGCTGGCTGAGAGGGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAAACTCCGTCTCAAAATTTAAGTCTTTCTGGCCAGGAGTGCTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGATCAGGAGTTCAAGACCAGCCTGGCCAAAATGGTGACTCCCTGTCTCTACTAAAAATATAAAAATTAGTTGGGCATGGTGGTAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAACCACTTGAACCCAGGAGGTTGCGGTGAGCCAGGATTGCACCATTCCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAATAAAATGTCTTT
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Task1_train_1754
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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CTTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGT
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CTTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCTTGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGT
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Task1_train_1755
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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.
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Pathogenic; Cardiovascular phenotype
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TTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTG
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TTGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCAAGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTG
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Task1_train_1756
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
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TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATAGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
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Task1_train_1757
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A genomic change on Chromosome 1 affects LMNA (lamin A/C). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; See cases
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TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
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TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATAGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
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Task1_train_1758
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An alteration has been detected in LMNA (lamin A/C) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
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TGGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATCGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGA
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Task1_train_1759
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Gene LMNA (lamin A/C) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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TACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGC
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TACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCGGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGC
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Task1_train_1760
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG
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GGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCTGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG
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Task1_train_1761
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAA
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GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGAAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAA
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Task1_train_1762
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAG
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GCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGGGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAG
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Task1_train_1763
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTG
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GGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGGGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTG
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Task1_train_1764
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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.
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Pathogenic; LMNA-related disorder
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CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
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CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAGTGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
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Task1_train_1765
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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?
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Pathogenic; Emery-Dreifuss muscular dystrophy 2, autosomal dominant
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CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
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CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAGTGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
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Task1_train_1766
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
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CTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAGTGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATT
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Task1_train_1767
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The gene LMNA (lamin A/C), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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TGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTT
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TGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAAAGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTT
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Task1_train_1768
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Here’s a variant in LMNA (lamin A/C) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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CCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTT
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CCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCACTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTT
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Task1_train_1769
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTT
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AGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGAGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTT
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Task1_train_1770
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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?
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Pathogenic; Familial partial lipodystrophy, Dunnigan type
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GGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAA
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GGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCTACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAA
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Task1_train_1771
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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?
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Pathogenic; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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AATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTT
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AATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACCCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTT
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Task1_train_1772
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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.
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Pathogenic; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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GAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGG
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GAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCGGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGG
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Task1_train_1773
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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.
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Pathogenic; Familial partial lipodystrophy, Dunnigan type
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ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
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ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGGGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
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Task1_train_1774
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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.
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Pathogenic; Dilated cardiomyopathy 1A
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ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
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ACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGGGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCT
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Task1_train_1775
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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.
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Pathogenic; Familial partial lipodystrophy, Dunnigan type
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GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
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GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTGGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
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Task1_train_1776
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTC
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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
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GCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGGGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGA
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Task1_train_1778
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This gene mutation involves LMNA (lamin A/C) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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TTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATG
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TTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGTGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATG
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Task1_train_1779
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
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GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACAAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
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Task1_train_1780
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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.
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Pathogenic; Primary dilated cardiomyopathy
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GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
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GTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACAAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT
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Task1_train_1781
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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.
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Pathogenic; Cardiovascular phenotype
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AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
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AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCTCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
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Task1_train_1782
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
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AATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCTCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCAT
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Task1_train_1783
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTA
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AAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCCTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTA
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Task1_train_1784
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTG
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AAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACCCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTG
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Task1_train_1785
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCT
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CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCCGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCT
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Task1_train_1786
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTT
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GGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTT
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Task1_train_1787
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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?
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Pathogenic; not provided
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TGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGG
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TGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGAAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGG
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Task1_train_1788
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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.
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Pathogenic; Hutchinson-Gilford progeria syndrome, childhood-onset
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GGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAG
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GGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCGGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAG
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Task1_train_1789
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCT
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GGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCCGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCT
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Task1_train_1790
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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.
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Pathogenic; Congenital muscular dystrophy due to LMNA mutation
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CTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGT
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CTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTTCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGT
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Task1_train_1791
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGT
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GATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCACGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGT
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Task1_train_1792
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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.
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Pathogenic; Hutchinson-Gilford progeria syndrome, atypical
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TCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTAC
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TCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGAAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTAC
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Task1_train_1793
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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.
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Pathogenic; LMNA-related disorder
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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Task1_train_1794
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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Task1_train_1795
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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.
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Pathogenic; Cardiovascular phenotype
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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Task1_train_1796
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Gene LMNA (lamin A/C) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Primary dilated cardiomyopathy
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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GCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGTGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATG
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Task1_train_1797
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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.
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
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GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAAGAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
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Task1_train_1798
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This is a variant in LMNA (lamin A/C), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Primary dilated cardiomyopathy
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GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
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GGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAAGAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAA
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Task1_train_1799
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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?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGA
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AACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGGACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGA
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Subsets and Splits
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