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_20300
|
This alteration in GLRX5 (glutaredoxin 5) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Spasticity-ataxia-gait anomalies syndrome
|
AAAGACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGGAGTATGCTTTTTCTGCAAGTCTGGTGTGCTCGAGGGTACCACCAACCCTGTGCGGCTCCAAGACTACAGATTATGTAGCAAGTCCACTGGTCCTGCTCTTCCGGATTTATTCTTCCCGCCAATAGGAGCACTTACCACGTTCCAAGCATCGTCCTAGGCACTGAGGATACAGCAGTGAATAAAACTGAGTGCTGGGTAGGAAGTCAATAACCAAGCTAGTAAATAACTGTATATTGTCAAGCACTGGTAAGTACAAGGGAGAGCAGAGCAAGCAATGGGCCTGATGAGGCTTGCTTTGTCTCCTCTGCACTCCCACACTGCTTTGTATCTGCTTCTCATTTCTCACGATGGGTCCAAGCTTTGGGCACCAGGTCTCCCTGGACATTCCGCGCTGGCACTGCGCCTAGCACCCAGCGGCTGCTCAGGAAACGTTTGTCGAACGAACGAATTCACTTCTTAGTTCCCCATTCAACAAACCTTTCCTGATCCTAGGCCCAACAGGTTAAAAGGCTGGAGGGCCAACGAGGCTGGAAACTCAGAGGCGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAAGAGGCCGAGGCAGGAGGATCCCTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAAAAAAGTGAGACATCGACCCCCCGCCCCCGCCGCCAATTCCGTCTCTACAAAAAGGAAGAAAAAAAAAAAAAACCCAGAGGAAATCACACAGGCAAAAGCGCTTTACAAATTTTAAAAATGAAAACTGTTCTAGAGAAATAATCGCGCGCCGGAGGCGGAAGCCCCAGAGCCTCAGCTCCCACGTGGCGGCGGAGCCAGGGAAAGTCCAGGAGCCAAGGCTACGGCCCGAGCGCTGGAACCCCGGTCAGGCTCCGGCTCCCCGCCACGACGAACTGCATGCGGCCGCGGCGCTCCGGAGGCGCCCGGGGACGCTCACCTAAGCTGGGAGAGGCGGATACCCGCCCGGCCTAGCCCCGCTACCTCCCAAGAGACCAACACGACAAGCGCGCGCCCACCGCATTGCCATGGCAATTCAACCGCCGCTGACACCGGAACCGGAAACTTCATCAGGAGGTGACCCCTTCCCGGCGTTCCGCGGAACGGGCGAGTCCCGCGCCTCTCCCAGTTGTCTCGGCGTAGTCCAGCTGGCCTCATTGGCTCACAGGAGGAAAGTCGTCTTCCCTCTTGTTTTGCCTCTCGTTGCCCTGCAAGCGTGACCCTGATGGACATCCAGTCTCTCCAATTAACTAACAAAGCGGTTGCCGACGACCAATAGTAAGGCAGTAGGATGAGGCTCCGGCATAAGGCCCACCTCCTACCTGCCGGGCGGGACGAGCAACATGATTGGTGGAATCGAGTAATTACTGATCAGTATTGTCCAATCACGGAGGGCAGTTTAGAGCCGGCCCAATGAGGGCCTCCAGGGGGCGGGTCGGACTGCCGCGGGCCGGGGAGCGCTCTGGGTGGCCAGCTGTGGGCCCGGGCCGTCGTGGGCTCCGGCTTGCGTGCGGAGATGAGCGGGTCCCTCGGCCGAGCTGCGGCGGCTCTGCTCCGCTGGGGGCGCGGCGCGGGCGGCGGTGGCCTTTGGGGTCCGGGCGTGCGGGCGGCGGGCTCGGGCGCGGGCGGCGGCGGCTCGGCGGAGCAGTTGGACGCGCTGGTGAAGAAGGACAAGGTGGTGGTCTTCCTCAAGGGGACGCCGGAGCAGCCCCAGTGCGGCTTCAGCAACGCCGTGGTGCAGATCCTGCGGCTGCACGGCGTCCGCGATTACGCGGCCTACAACGTGCTGGACGACCCGGAGCTCCGACAAGGTCAGGCCAGTGTGCCGGGCAGGCGCCCTCCGCCCCGGGCCCAGGAGCATCGCTGCACGAGGCCGAGGGGTTCCGCCGCGCCGGGCTGGGGAGCGGGGCTCCATCCGCCGGGGTCTGTCTGAAGGTTCGAGCCGGGTTAGGGCGAGGAGTACTGCCCTGGAGTAGAGTCTGGGCTGAGGGTGTAGTTGATTTCACTGGGTCTTGAGGATCTGGGGCTCTGTACTGTTGCCAACTTGAGCAGTAGGTAAAGTCCTAAAGGTTCACTTATCCTCACTTCGAGCTAATATAGGCGTTTCGGGGCGATTTGTCAATGACTGACTCGGAGGAGGGTGGCCCGCTGCCTGACTGCTCTGCACGGTTAGGAAACTCATAGTAAGGACCCACTGTGAGATAGGTACTTTCGCGGACACTTTGGGGAGGTTGGAAGCCATTGGCCTACTCGTGGGTAAGGTCTAGGGCTGTCGATGGTGGGGAGAGGGCTGAGGTTGCCCTTGAGGCTAGTGAGGTCGGAGGCTGATCTCGCTTGGCTCACGGCTCAGGGTGTCAAGCATCATCCTCTGTGGTTGCTACAAGCAAAGGGTTGGGACAGCTGTCGGCTGACCTTAGTCGGGATCTATGTTGTCGGGGAAGAGTCATGACATTTGGCTTTAGATACTCAAGCACAGGGCTGAATTTATGTGGGCCAGGGCTTGGAGAGGTTTGTGGGGAAAAGAAGCAGCCCTGGCTCCTGGGCCCTGGGCTAACTCACTGGCTCAGCCTTGGAGCCCAGGGGGCCAGGGCACCAGGGACCAGATGGATTAGGCCGGGAGAGGGAAGGCTGCAGCTAATAAGCATCTTTTCCAAGTACTCCACGTGCATTCGCCAGTCTTATCTGAGTAGGGGAGGAGGAAGAGGCCAGGCACAAGGGCCTGCTCCTTGGCCAGGATGGTCAGGGTTGGTGGAAAACTGGGAAGGCTGTACCTTTTCCTTCTAGAGAGTGACTTAGGATACCTGCATCCCAGTTAGAGACTTTCAGTGACTGAGTCCCTGCATGTCCCTAGCTAAAAAGAGGTGCCAGTTGTGTGCTAAAAATAGGTGCCAGGTTCTCTGTTACTCTAAATTCGAAATTACTAATCATAGTCATTGCTTACAATGATGAGACAGGCTGGTGTTTGGAAAAGCTTTGGGTTGACATCCTCTTCTGTGGCTAATCAGGTGTAAAACTTAAGTCACTCACCTGCATTTGAGGATAATGAGACAATTTGGCAAAGTTTGTGTTAGGAAGCCAAAGTAAAAATTATAGAAAGTGTGTATTATTTTACCTGGCACAGAAAGCACCCGGTAAATGGTAGCTGGCTTCGTATTAGCACTTGATGGTTTTCAAATGTATTTTTTCCCAGATTATCTAGTCCTTAAAGACTCTTGGGGATAACTGATCCTCCATTTGCTGTAGGTGATAGTGGTGGTGGGTGGGACCTAGAAAGCATGTTGAGTTGAGGAGTCGAGAGGGCAGGTTCAAATTACCACGTATATGTAATATTACCATGTGTTATTCTCATGACCCTTTTGTCTTCCTTGTCAACTAGTATGCCACCAGTTACTGGGCTCAGTTTTATCATGTGCAAGGCAAGGGACCTGCAGTCTTCCTTCGAAGACAGCTTCTCTGCTTAAAAGAGGAGTAACTATTTTGCAGTCTTTTGACAGAGACCTTGCAGGGAGTCCCCTGCAAATTGCCAATATGGCACTAGTAAAAAAGTGGTGTTGTTATCTCGCTTAGTATCATGTTTCGAGGGTCTTTGGTTTGTGAATTTATTTTCTCTTGTTTAATATAACTGGAAATGAGATATGCTGGAATATAGCTAGTAAACGGAAAATAGGAGCAAAAATACGAATATGTACTGATAACATTTTATTTTTCTGTCTTTTATCCACGTCTGGTGTCTGGTTTCTGAGCTTACTTTCTTAAGTTT
|
AAAGACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGGAGTATGCTTTTTCTGCAAGTCTGGTGTGCTCGAGGGTACCACCAACCCTGTGCGGCTCCAAGACTACAGATTATGTAGCAAGTCCACTGGTCCTGCTCTTCCGGATTTATTCTTCCCGCCAATAGGAGCACTTACCACGTTCCAAGCATCGTCCTAGGCACTGAGGATACAGCAGTGAATAAAACTGAGTGCTGGGTAGGAAGTCAATAACCAAGCTAGTAAATAACTGTATATTGTCAAGCACTGGTAAGTACAAGGGAGAGCAGAGCAAGCAATGGGCCTGATGAGGCTTGCTTTGTCTCCTCTGCACTCCCACACTGCTTTGTATCTGCTTCTCATTTCTCACGATGGGTCCAAGCTTTGGGCACCAGGTCTCCCTGGACATTCCGCGCTGGCACTGCGCCTAGCACCCAGCGGCTGCTCAGGAAACGTTTGTCGAACGAACGAATTCACTTCTTAGTTCCCCATTCAACAAACCTTTCCTGATCCTAGGCCCAACAGGTTAAAAGGCTGGAGGGCCAACGAGGCTGGAAACTCAGAGGCGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAAGAGGCCGAGGCAGGAGGATCCCTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAAAAAAGTGAGACATCGACCCCCCGCCCCCGCCGCCAATTCCGTCTCTACAAAAAGGAAGAAAAAAAAAAAAAACCCAGAGGAAATCACACAGGCAAAAGCGCTTTACAAATTTTAAAAATGAAAACTGTTCTAGAGAAATAATCGCGCGCCGGAGGCGGAAGCCCCAGAGCCTCAGCTCCCACGTGGCGGCGGAGCCAGGGAAAGTCCAGGAGCCAAGGCTACGGCCCGAGCGCTGGAACCCCGGTCAGGCTCCGGCTCCCCGCCACGACGAACTGCATGCGGCCGCGGCGCTCCGGAGGCGCCCGGGGACGCTCACCTAAGCTGGGAGAGGCGGATACCCGCCCGGCCTAGCCCCGCTACCTCCCAAGAGACCAACACGACAAGCGCGCGCCCACCGCATTGCCATGGCAATTCAACCGCCGCTGACACCGGAACCGGAAACTTCATCAGGAGGTGACCCCTTCCCGGCGTTCCGCGGAACGGGCGAGTCCCGCGCCTCTCCCAGTTGTCTCGGCGTAGTCCAGCTGGCCTCATTGGCTCACAGGAGGAAAGTCGTCTTCCCTCTTGTTTTGCCTCTCGTTGCCCTGCAAGCGTGACCCTGATGGACATCCAGTCTCTCCAATTAACTAACAAAGCGGTTGCCGACGACCAATAGTAAGGCAGTAGGATGAGGCTCCGGCATAAGGCCCACCTCCTACCTGCCGGGCGGGACGAGCAACATGATTGGTGGAATCGAGTAATTACTGATCAGTATTGTCCAATCACGGAGGGCAGTTTAGAGCCGGCCCAATGAGGGCCTCCAGGGGGCGGGTCGGACTGCCGCGGGCCGGGGAGCGCTCTGGGTGGCCAGCTGTGGGCCCGGGCCGTCGTGGGCTCCGGCTTGCGTGCGGAGATGAGCGGGTCCCTCGGCCGAGCTGCGGCGGCTCTGCTCCGCTGGGGGCGCGGCGCGGGCGGCGGTGGCCTTTGGGGTCCGGGCGTGCGGGCGGCGGGCTCGGGCGCGGGCGGCGGCGGCTCGGCGGAGCAGTTGGACGCGCTGGTGAAGAAGGACAAGGTGGTGGTCTTCCTCAAGGGGACGCCGGAGCAGCCCCCGTGCGGCTTCAGCAACGCCGTGGTGCAGATCCTGCGGCTGCACGGCGTCCGCGATTACGCGGCCTACAACGTGCTGGACGACCCGGAGCTCCGACAAGGTCAGGCCAGTGTGCCGGGCAGGCGCCCTCCGCCCCGGGCCCAGGAGCATCGCTGCACGAGGCCGAGGGGTTCCGCCGCGCCGGGCTGGGGAGCGGGGCTCCATCCGCCGGGGTCTGTCTGAAGGTTCGAGCCGGGTTAGGGCGAGGAGTACTGCCCTGGAGTAGAGTCTGGGCTGAGGGTGTAGTTGATTTCACTGGGTCTTGAGGATCTGGGGCTCTGTACTGTTGCCAACTTGAGCAGTAGGTAAAGTCCTAAAGGTTCACTTATCCTCACTTCGAGCTAATATAGGCGTTTCGGGGCGATTTGTCAATGACTGACTCGGAGGAGGGTGGCCCGCTGCCTGACTGCTCTGCACGGTTAGGAAACTCATAGTAAGGACCCACTGTGAGATAGGTACTTTCGCGGACACTTTGGGGAGGTTGGAAGCCATTGGCCTACTCGTGGGTAAGGTCTAGGGCTGTCGATGGTGGGGAGAGGGCTGAGGTTGCCCTTGAGGCTAGTGAGGTCGGAGGCTGATCTCGCTTGGCTCACGGCTCAGGGTGTCAAGCATCATCCTCTGTGGTTGCTACAAGCAAAGGGTTGGGACAGCTGTCGGCTGACCTTAGTCGGGATCTATGTTGTCGGGGAAGAGTCATGACATTTGGCTTTAGATACTCAAGCACAGGGCTGAATTTATGTGGGCCAGGGCTTGGAGAGGTTTGTGGGGAAAAGAAGCAGCCCTGGCTCCTGGGCCCTGGGCTAACTCACTGGCTCAGCCTTGGAGCCCAGGGGGCCAGGGCACCAGGGACCAGATGGATTAGGCCGGGAGAGGGAAGGCTGCAGCTAATAAGCATCTTTTCCAAGTACTCCACGTGCATTCGCCAGTCTTATCTGAGTAGGGGAGGAGGAAGAGGCCAGGCACAAGGGCCTGCTCCTTGGCCAGGATGGTCAGGGTTGGTGGAAAACTGGGAAGGCTGTACCTTTTCCTTCTAGAGAGTGACTTAGGATACCTGCATCCCAGTTAGAGACTTTCAGTGACTGAGTCCCTGCATGTCCCTAGCTAAAAAGAGGTGCCAGTTGTGTGCTAAAAATAGGTGCCAGGTTCTCTGTTACTCTAAATTCGAAATTACTAATCATAGTCATTGCTTACAATGATGAGACAGGCTGGTGTTTGGAAAAGCTTTGGGTTGACATCCTCTTCTGTGGCTAATCAGGTGTAAAACTTAAGTCACTCACCTGCATTTGAGGATAATGAGACAATTTGGCAAAGTTTGTGTTAGGAAGCCAAAGTAAAAATTATAGAAAGTGTGTATTATTTTACCTGGCACAGAAAGCACCCGGTAAATGGTAGCTGGCTTCGTATTAGCACTTGATGGTTTTCAAATGTATTTTTTCCCAGATTATCTAGTCCTTAAAGACTCTTGGGGATAACTGATCCTCCATTTGCTGTAGGTGATAGTGGTGGTGGGTGGGACCTAGAAAGCATGTTGAGTTGAGGAGTCGAGAGGGCAGGTTCAAATTACCACGTATATGTAATATTACCATGTGTTATTCTCATGACCCTTTTGTCTTCCTTGTCAACTAGTATGCCACCAGTTACTGGGCTCAGTTTTATCATGTGCAAGGCAAGGGACCTGCAGTCTTCCTTCGAAGACAGCTTCTCTGCTTAAAAGAGGAGTAACTATTTTGCAGTCTTTTGACAGAGACCTTGCAGGGAGTCCCCTGCAAATTGCCAATATGGCACTAGTAAAAAAGTGGTGTTGTTATCTCGCTTAGTATCATGTTTCGAGGGTCTTTGGTTTGTGAATTTATTTTCTCTTGTTTAATATAACTGGAAATGAGATATGCTGGAATATAGCTAGTAAACGGAAAATAGGAGCAAAAATACGAATATGTACTGATAACATTTTATTTTTCTGTCTTTTATCCACGTCTGGTGTCTGGTTTCTGAGCTTACTTTCTTAAGTTT
|
Task1_train_20301
|
Here’s a variant in GLRX5 (glutaredoxin 5) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Sideroblastic anemia 3
|
GACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGGAGTATGCTTTTTCTGCAAGTCTGGTGTGCTCGAGGGTACCACCAACCCTGTGCGGCTCCAAGACTACAGATTATGTAGCAAGTCCACTGGTCCTGCTCTTCCGGATTTATTCTTCCCGCCAATAGGAGCACTTACCACGTTCCAAGCATCGTCCTAGGCACTGAGGATACAGCAGTGAATAAAACTGAGTGCTGGGTAGGAAGTCAATAACCAAGCTAGTAAATAACTGTATATTGTCAAGCACTGGTAAGTACAAGGGAGAGCAGAGCAAGCAATGGGCCTGATGAGGCTTGCTTTGTCTCCTCTGCACTCCCACACTGCTTTGTATCTGCTTCTCATTTCTCACGATGGGTCCAAGCTTTGGGCACCAGGTCTCCCTGGACATTCCGCGCTGGCACTGCGCCTAGCACCCAGCGGCTGCTCAGGAAACGTTTGTCGAACGAACGAATTCACTTCTTAGTTCCCCATTCAACAAACCTTTCCTGATCCTAGGCCCAACAGGTTAAAAGGCTGGAGGGCCAACGAGGCTGGAAACTCAGAGGCGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAAGAGGCCGAGGCAGGAGGATCCCTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAAAAAAGTGAGACATCGACCCCCCGCCCCCGCCGCCAATTCCGTCTCTACAAAAAGGAAGAAAAAAAAAAAAAACCCAGAGGAAATCACACAGGCAAAAGCGCTTTACAAATTTTAAAAATGAAAACTGTTCTAGAGAAATAATCGCGCGCCGGAGGCGGAAGCCCCAGAGCCTCAGCTCCCACGTGGCGGCGGAGCCAGGGAAAGTCCAGGAGCCAAGGCTACGGCCCGAGCGCTGGAACCCCGGTCAGGCTCCGGCTCCCCGCCACGACGAACTGCATGCGGCCGCGGCGCTCCGGAGGCGCCCGGGGACGCTCACCTAAGCTGGGAGAGGCGGATACCCGCCCGGCCTAGCCCCGCTACCTCCCAAGAGACCAACACGACAAGCGCGCGCCCACCGCATTGCCATGGCAATTCAACCGCCGCTGACACCGGAACCGGAAACTTCATCAGGAGGTGACCCCTTCCCGGCGTTCCGCGGAACGGGCGAGTCCCGCGCCTCTCCCAGTTGTCTCGGCGTAGTCCAGCTGGCCTCATTGGCTCACAGGAGGAAAGTCGTCTTCCCTCTTGTTTTGCCTCTCGTTGCCCTGCAAGCGTGACCCTGATGGACATCCAGTCTCTCCAATTAACTAACAAAGCGGTTGCCGACGACCAATAGTAAGGCAGTAGGATGAGGCTCCGGCATAAGGCCCACCTCCTACCTGCCGGGCGGGACGAGCAACATGATTGGTGGAATCGAGTAATTACTGATCAGTATTGTCCAATCACGGAGGGCAGTTTAGAGCCGGCCCAATGAGGGCCTCCAGGGGGCGGGTCGGACTGCCGCGGGCCGGGGAGCGCTCTGGGTGGCCAGCTGTGGGCCCGGGCCGTCGTGGGCTCCGGCTTGCGTGCGGAGATGAGCGGGTCCCTCGGCCGAGCTGCGGCGGCTCTGCTCCGCTGGGGGCGCGGCGCGGGCGGCGGTGGCCTTTGGGGTCCGGGCGTGCGGGCGGCGGGCTCGGGCGCGGGCGGCGGCGGCTCGGCGGAGCAGTTGGACGCGCTGGTGAAGAAGGACAAGGTGGTGGTCTTCCTCAAGGGGACGCCGGAGCAGCCCCAGTGCGGCTTCAGCAACGCCGTGGTGCAGATCCTGCGGCTGCACGGCGTCCGCGATTACGCGGCCTACAACGTGCTGGACGACCCGGAGCTCCGACAAGGTCAGGCCAGTGTGCCGGGCAGGCGCCCTCCGCCCCGGGCCCAGGAGCATCGCTGCACGAGGCCGAGGGGTTCCGCCGCGCCGGGCTGGGGAGCGGGGCTCCATCCGCCGGGGTCTGTCTGAAGGTTCGAGCCGGGTTAGGGCGAGGAGTACTGCCCTGGAGTAGAGTCTGGGCTGAGGGTGTAGTTGATTTCACTGGGTCTTGAGGATCTGGGGCTCTGTACTGTTGCCAACTTGAGCAGTAGGTAAAGTCCTAAAGGTTCACTTATCCTCACTTCGAGCTAATATAGGCGTTTCGGGGCGATTTGTCAATGACTGACTCGGAGGAGGGTGGCCCGCTGCCTGACTGCTCTGCACGGTTAGGAAACTCATAGTAAGGACCCACTGTGAGATAGGTACTTTCGCGGACACTTTGGGGAGGTTGGAAGCCATTGGCCTACTCGTGGGTAAGGTCTAGGGCTGTCGATGGTGGGGAGAGGGCTGAGGTTGCCCTTGAGGCTAGTGAGGTCGGAGGCTGATCTCGCTTGGCTCACGGCTCAGGGTGTCAAGCATCATCCTCTGTGGTTGCTACAAGCAAAGGGTTGGGACAGCTGTCGGCTGACCTTAGTCGGGATCTATGTTGTCGGGGAAGAGTCATGACATTTGGCTTTAGATACTCAAGCACAGGGCTGAATTTATGTGGGCCAGGGCTTGGAGAGGTTTGTGGGGAAAAGAAGCAGCCCTGGCTCCTGGGCCCTGGGCTAACTCACTGGCTCAGCCTTGGAGCCCAGGGGGCCAGGGCACCAGGGACCAGATGGATTAGGCCGGGAGAGGGAAGGCTGCAGCTAATAAGCATCTTTTCCAAGTACTCCACGTGCATTCGCCAGTCTTATCTGAGTAGGGGAGGAGGAAGAGGCCAGGCACAAGGGCCTGCTCCTTGGCCAGGATGGTCAGGGTTGGTGGAAAACTGGGAAGGCTGTACCTTTTCCTTCTAGAGAGTGACTTAGGATACCTGCATCCCAGTTAGAGACTTTCAGTGACTGAGTCCCTGCATGTCCCTAGCTAAAAAGAGGTGCCAGTTGTGTGCTAAAAATAGGTGCCAGGTTCTCTGTTACTCTAAATTCGAAATTACTAATCATAGTCATTGCTTACAATGATGAGACAGGCTGGTGTTTGGAAAAGCTTTGGGTTGACATCCTCTTCTGTGGCTAATCAGGTGTAAAACTTAAGTCACTCACCTGCATTTGAGGATAATGAGACAATTTGGCAAAGTTTGTGTTAGGAAGCCAAAGTAAAAATTATAGAAAGTGTGTATTATTTTACCTGGCACAGAAAGCACCCGGTAAATGGTAGCTGGCTTCGTATTAGCACTTGATGGTTTTCAAATGTATTTTTTCCCAGATTATCTAGTCCTTAAAGACTCTTGGGGATAACTGATCCTCCATTTGCTGTAGGTGATAGTGGTGGTGGGTGGGACCTAGAAAGCATGTTGAGTTGAGGAGTCGAGAGGGCAGGTTCAAATTACCACGTATATGTAATATTACCATGTGTTATTCTCATGACCCTTTTGTCTTCCTTGTCAACTAGTATGCCACCAGTTACTGGGCTCAGTTTTATCATGTGCAAGGCAAGGGACCTGCAGTCTTCCTTCGAAGACAGCTTCTCTGCTTAAAAGAGGAGTAACTATTTTGCAGTCTTTTGACAGAGACCTTGCAGGGAGTCCCCTGCAAATTGCCAATATGGCACTAGTAAAAAAGTGGTGTTGTTATCTCGCTTAGTATCATGTTTCGAGGGTCTTTGGTTTGTGAATTTATTTTCTCTTGTTTAATATAACTGGAAATGAGATATGCTGGAATATAGCTAGTAAACGGAAAATAGGAGCAAAAATACGAATATGTACTGATAACATTTTATTTTTCTGTCTTTTATCCACGTCTGGTGTCTGGTTTCTGAGCTTACTTTCTTAAGTTTTCA
|
GACTCACTCACTGACATGATTTTCTGATTTTAAATTCGAACACTCTCAAAGCATAAACAGATCACCTCCAGCAACATTGTAAAAAAATACTCAAAGTTTAAAAAAAAAAAAGTAACTTGTGGCAGTACTTAGTGTTCAACAGAAAACACTCCATCTGCTAAACAATATCTCGACTGCAAAGCTTCTCTTACTGTTGGCGGATAGATAATGACATAGCCCAGTCATTATCACCGTGGCAACAGTGACCAGAAACTATCAGAGGAAAATTGCACATGGAACAGCTGGCTCTCGAGCAGGCATGCCTCAGCTTCCTCTGGAGTATGCTTTTTCTGCAAGTCTGGTGTGCTCGAGGGTACCACCAACCCTGTGCGGCTCCAAGACTACAGATTATGTAGCAAGTCCACTGGTCCTGCTCTTCCGGATTTATTCTTCCCGCCAATAGGAGCACTTACCACGTTCCAAGCATCGTCCTAGGCACTGAGGATACAGCAGTGAATAAAACTGAGTGCTGGGTAGGAAGTCAATAACCAAGCTAGTAAATAACTGTATATTGTCAAGCACTGGTAAGTACAAGGGAGAGCAGAGCAAGCAATGGGCCTGATGAGGCTTGCTTTGTCTCCTCTGCACTCCCACACTGCTTTGTATCTGCTTCTCATTTCTCACGATGGGTCCAAGCTTTGGGCACCAGGTCTCCCTGGACATTCCGCGCTGGCACTGCGCCTAGCACCCAGCGGCTGCTCAGGAAACGTTTGTCGAACGAACGAATTCACTTCTTAGTTCCCCATTCAACAAACCTTTCCTGATCCTAGGCCCAACAGGTTAAAAGGCTGGAGGGCCAACGAGGCTGGAAACTCAGAGGCGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAAGAGGCCGAGGCAGGAGGATCCCTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAAAAAAGTGAGACATCGACCCCCCGCCCCCGCCGCCAATTCCGTCTCTACAAAAAGGAAGAAAAAAAAAAAAAACCCAGAGGAAATCACACAGGCAAAAGCGCTTTACAAATTTTAAAAATGAAAACTGTTCTAGAGAAATAATCGCGCGCCGGAGGCGGAAGCCCCAGAGCCTCAGCTCCCACGTGGCGGCGGAGCCAGGGAAAGTCCAGGAGCCAAGGCTACGGCCCGAGCGCTGGAACCCCGGTCAGGCTCCGGCTCCCCGCCACGACGAACTGCATGCGGCCGCGGCGCTCCGGAGGCGCCCGGGGACGCTCACCTAAGCTGGGAGAGGCGGATACCCGCCCGGCCTAGCCCCGCTACCTCCCAAGAGACCAACACGACAAGCGCGCGCCCACCGCATTGCCATGGCAATTCAACCGCCGCTGACACCGGAACCGGAAACTTCATCAGGAGGTGACCCCTTCCCGGCGTTCCGCGGAACGGGCGAGTCCCGCGCCTCTCCCAGTTGTCTCGGCGTAGTCCAGCTGGCCTCATTGGCTCACAGGAGGAAAGTCGTCTTCCCTCTTGTTTTGCCTCTCGTTGCCCTGCAAGCGTGACCCTGATGGACATCCAGTCTCTCCAATTAACTAACAAAGCGGTTGCCGACGACCAATAGTAAGGCAGTAGGATGAGGCTCCGGCATAAGGCCCACCTCCTACCTGCCGGGCGGGACGAGCAACATGATTGGTGGAATCGAGTAATTACTGATCAGTATTGTCCAATCACGGAGGGCAGTTTAGAGCCGGCCCAATGAGGGCCTCCAGGGGGCGGGTCGGACTGCCGCGGGCCGGGGAGCGCTCTGGGTGGCCAGCTGTGGGCCCGGGCCGTCGTGGGCTCCGGCTTGCGTGCGGAGATGAGCGGGTCCCTCGGCCGAGCTGCGGCGGCTCTGCTCCGCTGGGGGCGCGGCGCGGGCGGCGGTGGCCTTTGGGGTCCGGGCGTGCGGGCGGCGGGCTCGGGCGCGGGCGGCGGCGGCTCGGCGGAGCAGTTGGACGCGCTGGTGAAGAAGGACAAGGTGGTGGTCTTCCTCAAGGGGACGCCGGAGCAGCCCCAGTACGGCTTCAGCAACGCCGTGGTGCAGATCCTGCGGCTGCACGGCGTCCGCGATTACGCGGCCTACAACGTGCTGGACGACCCGGAGCTCCGACAAGGTCAGGCCAGTGTGCCGGGCAGGCGCCCTCCGCCCCGGGCCCAGGAGCATCGCTGCACGAGGCCGAGGGGTTCCGCCGCGCCGGGCTGGGGAGCGGGGCTCCATCCGCCGGGGTCTGTCTGAAGGTTCGAGCCGGGTTAGGGCGAGGAGTACTGCCCTGGAGTAGAGTCTGGGCTGAGGGTGTAGTTGATTTCACTGGGTCTTGAGGATCTGGGGCTCTGTACTGTTGCCAACTTGAGCAGTAGGTAAAGTCCTAAAGGTTCACTTATCCTCACTTCGAGCTAATATAGGCGTTTCGGGGCGATTTGTCAATGACTGACTCGGAGGAGGGTGGCCCGCTGCCTGACTGCTCTGCACGGTTAGGAAACTCATAGTAAGGACCCACTGTGAGATAGGTACTTTCGCGGACACTTTGGGGAGGTTGGAAGCCATTGGCCTACTCGTGGGTAAGGTCTAGGGCTGTCGATGGTGGGGAGAGGGCTGAGGTTGCCCTTGAGGCTAGTGAGGTCGGAGGCTGATCTCGCTTGGCTCACGGCTCAGGGTGTCAAGCATCATCCTCTGTGGTTGCTACAAGCAAAGGGTTGGGACAGCTGTCGGCTGACCTTAGTCGGGATCTATGTTGTCGGGGAAGAGTCATGACATTTGGCTTTAGATACTCAAGCACAGGGCTGAATTTATGTGGGCCAGGGCTTGGAGAGGTTTGTGGGGAAAAGAAGCAGCCCTGGCTCCTGGGCCCTGGGCTAACTCACTGGCTCAGCCTTGGAGCCCAGGGGGCCAGGGCACCAGGGACCAGATGGATTAGGCCGGGAGAGGGAAGGCTGCAGCTAATAAGCATCTTTTCCAAGTACTCCACGTGCATTCGCCAGTCTTATCTGAGTAGGGGAGGAGGAAGAGGCCAGGCACAAGGGCCTGCTCCTTGGCCAGGATGGTCAGGGTTGGTGGAAAACTGGGAAGGCTGTACCTTTTCCTTCTAGAGAGTGACTTAGGATACCTGCATCCCAGTTAGAGACTTTCAGTGACTGAGTCCCTGCATGTCCCTAGCTAAAAAGAGGTGCCAGTTGTGTGCTAAAAATAGGTGCCAGGTTCTCTGTTACTCTAAATTCGAAATTACTAATCATAGTCATTGCTTACAATGATGAGACAGGCTGGTGTTTGGAAAAGCTTTGGGTTGACATCCTCTTCTGTGGCTAATCAGGTGTAAAACTTAAGTCACTCACCTGCATTTGAGGATAATGAGACAATTTGGCAAAGTTTGTGTTAGGAAGCCAAAGTAAAAATTATAGAAAGTGTGTATTATTTTACCTGGCACAGAAAGCACCCGGTAAATGGTAGCTGGCTTCGTATTAGCACTTGATGGTTTTCAAATGTATTTTTTCCCAGATTATCTAGTCCTTAAAGACTCTTGGGGATAACTGATCCTCCATTTGCTGTAGGTGATAGTGGTGGTGGGTGGGACCTAGAAAGCATGTTGAGTTGAGGAGTCGAGAGGGCAGGTTCAAATTACCACGTATATGTAATATTACCATGTGTTATTCTCATGACCCTTTTGTCTTCCTTGTCAACTAGTATGCCACCAGTTACTGGGCTCAGTTTTATCATGTGCAAGGCAAGGGACCTGCAGTCTTCCTTCGAAGACAGCTTCTCTGCTTAAAAGAGGAGTAACTATTTTGCAGTCTTTTGACAGAGACCTTGCAGGGAGTCCCCTGCAAATTGCCAATATGGCACTAGTAAAAAAGTGGTGTTGTTATCTCGCTTAGTATCATGTTTCGAGGGTCTTTGGTTTGTGAATTTATTTTCTCTTGTTTAATATAACTGGAAATGAGATATGCTGGAATATAGCTAGTAAACGGAAAATAGGAGCAAAAATACGAATATGTACTGATAACATTTTATTTTTCTGTCTTTTATCCACGTCTGGTGTCTGGTTTCTGAGCTTACTTTCTTAAGTTTTCA
|
Task1_train_20302
|
The variant affects gene GLRX5 (glutaredoxin 5), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Sideroblastic anemia 3
|
ATTATCATGGAAAGCTTCACACAATATATTATTCATTGAAACAAAACAGGTCGTTCATGCACATAAATGATTCATTTGTATAAAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTGAGAGGTGTCCTTTTGGAGGCCTAGAGCAATGTAACCCTTTCTTAATATGTGAAGTCTGGAGAAGGAAGATAAAGCCCTTGGTTCAGGGGCTTTCTTTAGGGCTGTCATTTAGAGCAAAGTCAGTTTTTTTAATAAGGCAATAACTTTTAAGAAAAAAATAAATAGTATATTGGGACTTGTGATATAACTGAAATCAGTAATTTTATTTGGAAAATGTTTGATAATAAATTATAGGGTATCAAGAGCAAGTTTTTGTATTTTTAGTTTGTTTACATAAAAATCGATTTGTGTAAACTGTACTGGACTTGAACAATCTGTTGACTTTTCCGTTTTGTTTATCCATATGCTCATTTTGGCCATTTAAAAATATCTATCTATGTAAATATAAAAGTGTCACATAAGTGTTAGTTATTATATGCCATGCTTTGACCATCTTCGTTTTTAACATGACCAATACAGGCTTTTTAATGGCCGACTATGTTTTTGAAAGCACAGTCATCTCAACATACAAGTAGAAAAGGAAGTAGACTGATGAAGAGGAATGTTAAGAGTAATCTTTTATGTCTTAAGATTGAAGCCACATTTCTTTCTTACCATTTTGTTACAGTCATCATCCTTGTGGCTCAGAATTGAACAGAGTAGTTGCACAGCTGCGCTGTCACAGAGTGTCCCTCATCTCATGTGTGTCCTCAGAGCCATTTGCACACAGGACTGATCACATGCATGCTGGTTGGTTTCTTGGCTGCTGTGAGCGCTTAAGAGCAGAGCGGGTCTCACTCCCCCACCCCTCAGCCCTGGACAGGGACCTTGCTGAGCTCTGGGCCTTCATTAGACTCACCAGTCACTTCGGGTTCTGCACAGAGCCTCATCATCCACTCCACAGAGAGCCCATCACAGTGGCTGGATAGATGGGAACTGACAACCCATAGCTGTGGGACAGGGATTTTTCCCTGGGTAAAAGTAATTGTTAAAAATTAAAAAAAAAAAAAACTCAACAACTCATCATCTCGAGGAGAAGTGACTGACGGCCTGCACCAACTTAGACAGTCACAGTCATGAAAAGTGCACAGGTGGGATTGCCCGAGTTGGCCATGAATTACCGTGATGGATCCATTTGGAAATGAAGTTGGTTGTGACATTTCTTCAAGTTTTGTTTCGCTTGAAGCTTGACTGGTAGATGGAGAATTTTGGCCTTATGTATCTTATGTGACTTGCATTACCCAGTCCAGTCCTCTGCCATTAATCTAAGGTCCGCAATGTATCAGGTATTTTACTGAGAATCTTGCTTACCTAATTCTCACAAAAAAAAAAACCTTGGGAGATGAGGGTGGAAACAGGATGAGAGGTCAGGTGACTTGTCTGAGGGCTGACGGTTTGTAATTGGAAGAGTCAGGGCCTAACCACTGGTCTCTTTGACACAAAAACTCATGCTCTTAGTGGCAAGCACAGTGTTCTCAAGATTGGGGGAAGCCAGGGAGGGACAGTGGGTTGTCTGCTACTAGTGGGTCAAAATTACATATTTAGTCATGAATGGTTCAGCTTTTACCATTTAAATAACAAATAAATGTTCTTTCTCCATAGGCATTAAAGACTATTCCAACTGGCCCACCATCCCGCAAGTGTACCTCAATGGCGAGTTTGTAGGGGGCTGTGACATTCTTCTGCAGATGCACCAGAATGGGGACTTGGTGGAAGAACTGAAAAAGCTGGGGATCCACTCCGCCCTTTTAGATGAAAAGAAAGACCAAGACTCCAAGTGAGGGCGGCCAAGTCCTCGCTGAGCAGAGAGGGAGCCGTTCATGTCAGAGACTCACTGCCAGAAAAGCCTTACCCATTTTGGTTTTCACTATTGAGACCGCAACTGCTTGCACTGATCATTTTGGTTCGTGAGCAGTTGGTGATTTTAGTTGGTCTGGTGTTCGGGCTAAGAATATTTTATTGTGGACTTAATTACAACCACTGCACTGTAATGATTCAATGCTGTATTATGATATTGCTGTAAACAAAATTCATTCTTATATTGTCACTTATTCTTTGCCTGATTCAGAAGTTAAATAGGAGCTTTGGAATCATTATTCATGACCCCTCTGCAAATGTGTCAGTCTCCAAAGAGAGTATCTCCCCCCAAATTTTGTGTAGCTTCTTTTGTTATGGAAAATGGTGAACAAAAAAAGAAACTGTGATAACTGGGGCGTTGTTTTTTAAAATAAACTCCAGCACAGGGATGCTGTGCATGCCTGAGTTGATTCCGAAGTGCATATGTCTGTAAGGATTTGGAGTGCCTGCAGTGTTTTATGTGTGGGAAGTAAGGGTGAGTCTCATATTCTTCTATTAAATTTGCCACAAGAATTGCCGTCGAGCCCTGGTCTACTTTCTGGGGGAAGCAGCTGTTTGGATGGTGAGTCAACTGTGCAGCTGGAGGCGTGGGTGGGCTGGAGGGAGCAGAGGTGGGTGAGGCCGGAGGAGGCGGCCCCACCTGCCTATCTCTGGAGCCCTGTGCTTGGCACACTGCTACAGTTAGATAGGGAGACATCGTCAACAGTCCACCGAGCTAGGGGATTTAATGAGTATTTTACTTCTTAAAAAGTGGGGACTTTCTAAAAGAGGACATAATTTGGAATTGTGGCAGAGATTCTCCCAGTGTCTGGTGTCTTTATAAGACCTTTCCATGAGTTCTGCATCCCGAGACTGGGGCCTGGTAGAGCCTGGGGCTGTGCAGAGGCCCATGGGAAGGAAGCCCGCCTGGTGTGGCATGGAGGCTTTGTTCATCTCCAGGGACTTAAAGAGAGCGCTTGTCTAGAAACATATCTTTACGGTGGCAGAGGTGGGAAGAAGGATGCATTTTCTCATAATAAGGGCAAAAAGGACAGAACGGCTCTTTTCCCCAGAGCTATTCTAGAGGCTTGTTCTTCGTTGCTTATTTAATCTCCTTGAGTTCCTCTCGAGAATACTCTAAAAACAGACTTCCTCCATGAGGTCAGGCTAGAACTGATGGAGTTGCCCCTGCTCCCCTTCCCCAGAGGTTTTGGAAGGGGAAGGAAAGCTGTAGCCCCACGCCCCCACCCTGGGGACTGCCCCATCAGATTAGAGCACTGCTCCTCAGCAGTCACCCACCTCACCGTGTTAGAGAAAAGAAAAATAGATTATTCTCAGAAAAAGGTTATTACATTAATTGTCTGCTACATCCCATGATACCTTTATGTCTTCTGTAAGCTAAGGGACCTTAGGATCTAAGAGGAGGTTAAAACACATCCATTTGAGCCATTTGGTTTAGAAATGAGGGAAGCAGGAGCACTAGAAGGATCTACCTTGCCCTGTAGACAGAGTCACCATGAATAAGTCACTTCATACTGCCTCTGGATGGATACAGGCCGTGGACCAGAGGCCGGGTCTGCAAAATTGTCCCTTGCCATCACATCTAGTGAGGAGTGTGATACGTTTTCACAATTTTGCTTCTTTTGGCTTTTCCTTGAATCTGCCTGTGTGCCCTTAGGTTTCATCTGAAAAGCGAAATGATGAGAAACTTATTGATGGGAAGCATCAATGTAAGAAACCTCTCTAGAATATGATTGGAGCTAGGAAAAGGCTGCCAAGTGAATAATTTGACTCATGCTTATGAGTCATAGTGAGATCA
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ATTATCATGGAAAGCTTCACACAATATATTATTCATTGAAACAAAACAGGTCGTTCATGCACATAAATGATTCATTTGTATAAAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTGAGAGGTGTCCTTTTGGAGGCCTAGAGCAATGTAACCCTTTCTTAATATGTGAAGTCTGGAGAAGGAAGATAAAGCCCTTGGTTCAGGGGCTTTCTTTAGGGCTGTCATTTAGAGCAAAGTCAGTTTTTTTAATAAGGCAATAACTTTTAAGAAAAAAATAAATAGTATATTGGGACTTGTGATATAACTGAAATCAGTAATTTTATTTGGAAAATGTTTGATAATAAATTATAGGGTATCAAGAGCAAGTTTTTGTATTTTTAGTTTGTTTACATAAAAATCGATTTGTGTAAACTGTACTGGACTTGAACAATCTGTTGACTTTTCCGTTTTGTTTATCCATATGCTCATTTTGGCCATTTAAAAATATCTATCTATGTAAATATAAAAGTGTCACATAAGTGTTAGTTATTATATGCCATGCTTTGACCATCTTCGTTTTTAACATGACCAATACAGGCTTTTTAATGGCCGACTATGTTTTTGAAAGCACAGTCATCTCAACATACAAGTAGAAAAGGAAGTAGACTGATGAAGAGGAATGTTAAGAGTAATCTTTTATGTCTTAAGATTGAAGCCACATTTCTTTCTTACCATTTTGTTACAGTCATCATCCTTGTGGCTCAGAATTGAACAGAGTAGTTGCACAGCTGCGCTGTCACAGAGTGTCCCTCATCTCATGTGTGTCCTCAGAGCCATTTGCACACAGGACTGATCACATGCATGCTGGTTGGTTTCTTGGCTGCTGTGAGCGCTTAAGAGCAGAGCGGGTCTCACTCCCCCACCCCTCAGCCCTGGACAGGGACCTTGCTGAGCTCTGGGCCTTCATTAGACTCACCAGTCACTTCGGGTTCTGCACAGAGCCTCATCATCCACTCCACAGAGAGCCCATCACAGTGGCTGGATAGATGGGAACTGACAACCCATAGCTGTGGGACAGGGATTTTTCCCTGGGTAAAAGTAATTGTTAAAAATTAAAAAAAAAAAAAACTCAACAACTCATCATCTCGAGGAGAAGTGACTGACGGCCTGCACCAACTTAGACAGTCACAGTCATGAAAAGTGCACAGGTGGGATTGCCCGAGTTGGCCATGAATTACCGTGATGGATCCATTTGGAAATGAAGTTGGTTGTGACATTTCTTCAAGTTTTGTTTCGCTTGAAGCTTGACTGGTAGATGGAGAATTTTGGCCTTATGTATCTTATGTGACTTGCATTACCCAGTCCAGTCCTCTGCCATTAATCTAAGGTCCGCAATGTATCAGGTATTTTACTGAGAATCTTGCTTACCTAATTCTCACAAAAAAAAAAACCTTGGGAGATGAGGGTGGAAACAGGATGAGAGGTCAGGTGACTTGTCTGAGGGCTGACGGTTTGTAATTGGAAGAGTCAGGGCCTAACCACTGGTCTCTTTGACACAAAAACTCATGCTCTTAGTGGCAAGCACAGTGTTCTCAAGATTGGGGGAAGCCAGGGAGGGACAGTGGGTTGTCTGCTACTAGTGGGTCAAAATTACATATTTAGTCATGAATGGTTCAGCTTTTACCATTTAAATAACAAATAAATGTTCTTTCTCCATAGGCATTCAAGACTATTCCAACTGGCCCACCATCCCGCAAGTGTACCTCAATGGCGAGTTTGTAGGGGGCTGTGACATTCTTCTGCAGATGCACCAGAATGGGGACTTGGTGGAAGAACTGAAAAAGCTGGGGATCCACTCCGCCCTTTTAGATGAAAAGAAAGACCAAGACTCCAAGTGAGGGCGGCCAAGTCCTCGCTGAGCAGAGAGGGAGCCGTTCATGTCAGAGACTCACTGCCAGAAAAGCCTTACCCATTTTGGTTTTCACTATTGAGACCGCAACTGCTTGCACTGATCATTTTGGTTCGTGAGCAGTTGGTGATTTTAGTTGGTCTGGTGTTCGGGCTAAGAATATTTTATTGTGGACTTAATTACAACCACTGCACTGTAATGATTCAATGCTGTATTATGATATTGCTGTAAACAAAATTCATTCTTATATTGTCACTTATTCTTTGCCTGATTCAGAAGTTAAATAGGAGCTTTGGAATCATTATTCATGACCCCTCTGCAAATGTGTCAGTCTCCAAAGAGAGTATCTCCCCCCAAATTTTGTGTAGCTTCTTTTGTTATGGAAAATGGTGAACAAAAAAAGAAACTGTGATAACTGGGGCGTTGTTTTTTAAAATAAACTCCAGCACAGGGATGCTGTGCATGCCTGAGTTGATTCCGAAGTGCATATGTCTGTAAGGATTTGGAGTGCCTGCAGTGTTTTATGTGTGGGAAGTAAGGGTGAGTCTCATATTCTTCTATTAAATTTGCCACAAGAATTGCCGTCGAGCCCTGGTCTACTTTCTGGGGGAAGCAGCTGTTTGGATGGTGAGTCAACTGTGCAGCTGGAGGCGTGGGTGGGCTGGAGGGAGCAGAGGTGGGTGAGGCCGGAGGAGGCGGCCCCACCTGCCTATCTCTGGAGCCCTGTGCTTGGCACACTGCTACAGTTAGATAGGGAGACATCGTCAACAGTCCACCGAGCTAGGGGATTTAATGAGTATTTTACTTCTTAAAAAGTGGGGACTTTCTAAAAGAGGACATAATTTGGAATTGTGGCAGAGATTCTCCCAGTGTCTGGTGTCTTTATAAGACCTTTCCATGAGTTCTGCATCCCGAGACTGGGGCCTGGTAGAGCCTGGGGCTGTGCAGAGGCCCATGGGAAGGAAGCCCGCCTGGTGTGGCATGGAGGCTTTGTTCATCTCCAGGGACTTAAAGAGAGCGCTTGTCTAGAAACATATCTTTACGGTGGCAGAGGTGGGAAGAAGGATGCATTTTCTCATAATAAGGGCAAAAAGGACAGAACGGCTCTTTTCCCCAGAGCTATTCTAGAGGCTTGTTCTTCGTTGCTTATTTAATCTCCTTGAGTTCCTCTCGAGAATACTCTAAAAACAGACTTCCTCCATGAGGTCAGGCTAGAACTGATGGAGTTGCCCCTGCTCCCCTTCCCCAGAGGTTTTGGAAGGGGAAGGAAAGCTGTAGCCCCACGCCCCCACCCTGGGGACTGCCCCATCAGATTAGAGCACTGCTCCTCAGCAGTCACCCACCTCACCGTGTTAGAGAAAAGAAAAATAGATTATTCTCAGAAAAAGGTTATTACATTAATTGTCTGCTACATCCCATGATACCTTTATGTCTTCTGTAAGCTAAGGGACCTTAGGATCTAAGAGGAGGTTAAAACACATCCATTTGAGCCATTTGGTTTAGAAATGAGGGAAGCAGGAGCACTAGAAGGATCTACCTTGCCCTGTAGACAGAGTCACCATGAATAAGTCACTTCATACTGCCTCTGGATGGATACAGGCCGTGGACCAGAGGCCGGGTCTGCAAAATTGTCCCTTGCCATCACATCTAGTGAGGAGTGTGATACGTTTTCACAATTTTGCTTCTTTTGGCTTTTCCTTGAATCTGCCTGTGTGCCCTTAGGTTTCATCTGAAAAGCGAAATGATGAGAAACTTATTGATGGGAAGCATCAATGTAAGAAACCTCTCTAGAATATGATTGGAGCTAGGAAAAGGCTGCCAAGTGAATAATTTGACTCATGCTTATGAGTCATAGTGAGATCA
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Task1_train_20303
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Chromosome 14 houses a mutation in gene GLRX5 (glutaredoxin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Sideroblastic anemia 3
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AAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTGAGAGGTGTCCTTTTGGAGGCCTAGAGCAATGTAACCCTTTCTTAATATGTGAAGTCTGGAGAAGGAAGATAAAGCCCTTGGTTCAGGGGCTTTCTTTAGGGCTGTCATTTAGAGCAAAGTCAGTTTTTTTAATAAGGCAATAACTTTTAAGAAAAAAATAAATAGTATATTGGGACTTGTGATATAACTGAAATCAGTAATTTTATTTGGAAAATGTTTGATAATAAATTATAGGGTATCAAGAGCAAGTTTTTGTATTTTTAGTTTGTTTACATAAAAATCGATTTGTGTAAACTGTACTGGACTTGAACAATCTGTTGACTTTTCCGTTTTGTTTATCCATATGCTCATTTTGGCCATTTAAAAATATCTATCTATGTAAATATAAAAGTGTCACATAAGTGTTAGTTATTATATGCCATGCTTTGACCATCTTCGTTTTTAACATGACCAATACAGGCTTTTTAATGGCCGACTATGTTTTTGAAAGCACAGTCATCTCAACATACAAGTAGAAAAGGAAGTAGACTGATGAAGAGGAATGTTAAGAGTAATCTTTTATGTCTTAAGATTGAAGCCACATTTCTTTCTTACCATTTTGTTACAGTCATCATCCTTGTGGCTCAGAATTGAACAGAGTAGTTGCACAGCTGCGCTGTCACAGAGTGTCCCTCATCTCATGTGTGTCCTCAGAGCCATTTGCACACAGGACTGATCACATGCATGCTGGTTGGTTTCTTGGCTGCTGTGAGCGCTTAAGAGCAGAGCGGGTCTCACTCCCCCACCCCTCAGCCCTGGACAGGGACCTTGCTGAGCTCTGGGCCTTCATTAGACTCACCAGTCACTTCGGGTTCTGCACAGAGCCTCATCATCCACTCCACAGAGAGCCCATCACAGTGGCTGGATAGATGGGAACTGACAACCCATAGCTGTGGGACAGGGATTTTTCCCTGGGTAAAAGTAATTGTTAAAAATTAAAAAAAAAAAAAACTCAACAACTCATCATCTCGAGGAGAAGTGACTGACGGCCTGCACCAACTTAGACAGTCACAGTCATGAAAAGTGCACAGGTGGGATTGCCCGAGTTGGCCATGAATTACCGTGATGGATCCATTTGGAAATGAAGTTGGTTGTGACATTTCTTCAAGTTTTGTTTCGCTTGAAGCTTGACTGGTAGATGGAGAATTTTGGCCTTATGTATCTTATGTGACTTGCATTACCCAGTCCAGTCCTCTGCCATTAATCTAAGGTCCGCAATGTATCAGGTATTTTACTGAGAATCTTGCTTACCTAATTCTCACAAAAAAAAAAACCTTGGGAGATGAGGGTGGAAACAGGATGAGAGGTCAGGTGACTTGTCTGAGGGCTGACGGTTTGTAATTGGAAGAGTCAGGGCCTAACCACTGGTCTCTTTGACACAAAAACTCATGCTCTTAGTGGCAAGCACAGTGTTCTCAAGATTGGGGGAAGCCAGGGAGGGACAGTGGGTTGTCTGCTACTAGTGGGTCAAAATTACATATTTAGTCATGAATGGTTCAGCTTTTACCATTTAAATAACAAATAAATGTTCTTTCTCCATAGGCATTAAAGACTATTCCAACTGGCCCACCATCCCGCAAGTGTACCTCAATGGCGAGTTTGTAGGGGGCTGTGACATTCTTCTGCAGATGCACCAGAATGGGGACTTGGTGGAAGAACTGAAAAAGCTGGGGATCCACTCCGCCCTTTTAGATGAAAAGAAAGACCAAGACTCCAAGTGAGGGCGGCCAAGTCCTCGCTGAGCAGAGAGGGAGCCGTTCATGTCAGAGACTCACTGCCAGAAAAGCCTTACCCATTTTGGTTTTCACTATTGAGACCGCAACTGCTTGCACTGATCATTTTGGTTCGTGAGCAGTTGGTGATTTTAGTTGGTCTGGTGTTCGGGCTAAGAATATTTTATTGTGGACTTAATTACAACCACTGCACTGTAATGATTCAATGCTGTATTATGATATTGCTGTAAACAAAATTCATTCTTATATTGTCACTTATTCTTTGCCTGATTCAGAAGTTAAATAGGAGCTTTGGAATCATTATTCATGACCCCTCTGCAAATGTGTCAGTCTCCAAAGAGAGTATCTCCCCCCAAATTTTGTGTAGCTTCTTTTGTTATGGAAAATGGTGAACAAAAAAAGAAACTGTGATAACTGGGGCGTTGTTTTTTAAAATAAACTCCAGCACAGGGATGCTGTGCATGCCTGAGTTGATTCCGAAGTGCATATGTCTGTAAGGATTTGGAGTGCCTGCAGTGTTTTATGTGTGGGAAGTAAGGGTGAGTCTCATATTCTTCTATTAAATTTGCCACAAGAATTGCCGTCGAGCCCTGGTCTACTTTCTGGGGGAAGCAGCTGTTTGGATGGTGAGTCAACTGTGCAGCTGGAGGCGTGGGTGGGCTGGAGGGAGCAGAGGTGGGTGAGGCCGGAGGAGGCGGCCCCACCTGCCTATCTCTGGAGCCCTGTGCTTGGCACACTGCTACAGTTAGATAGGGAGACATCGTCAACAGTCCACCGAGCTAGGGGATTTAATGAGTATTTTACTTCTTAAAAAGTGGGGACTTTCTAAAAGAGGACATAATTTGGAATTGTGGCAGAGATTCTCCCAGTGTCTGGTGTCTTTATAAGACCTTTCCATGAGTTCTGCATCCCGAGACTGGGGCCTGGTAGAGCCTGGGGCTGTGCAGAGGCCCATGGGAAGGAAGCCCGCCTGGTGTGGCATGGAGGCTTTGTTCATCTCCAGGGACTTAAAGAGAGCGCTTGTCTAGAAACATATCTTTACGGTGGCAGAGGTGGGAAGAAGGATGCATTTTCTCATAATAAGGGCAAAAAGGACAGAACGGCTCTTTTCCCCAGAGCTATTCTAGAGGCTTGTTCTTCGTTGCTTATTTAATCTCCTTGAGTTCCTCTCGAGAATACTCTAAAAACAGACTTCCTCCATGAGGTCAGGCTAGAACTGATGGAGTTGCCCCTGCTCCCCTTCCCCAGAGGTTTTGGAAGGGGAAGGAAAGCTGTAGCCCCACGCCCCCACCCTGGGGACTGCCCCATCAGATTAGAGCACTGCTCCTCAGCAGTCACCCACCTCACCGTGTTAGAGAAAAGAAAAATAGATTATTCTCAGAAAAAGGTTATTACATTAATTGTCTGCTACATCCCATGATACCTTTATGTCTTCTGTAAGCTAAGGGACCTTAGGATCTAAGAGGAGGTTAAAACACATCCATTTGAGCCATTTGGTTTAGAAATGAGGGAAGCAGGAGCACTAGAAGGATCTACCTTGCCCTGTAGACAGAGTCACCATGAATAAGTCACTTCATACTGCCTCTGGATGGATACAGGCCGTGGACCAGAGGCCGGGTCTGCAAAATTGTCCCTTGCCATCACATCTAGTGAGGAGTGTGATACGTTTTCACAATTTTGCTTCTTTTGGCTTTTCCTTGAATCTGCCTGTGTGCCCTTAGGTTTCATCTGAAAAGCGAAATGATGAGAAACTTATTGATGGGAAGCATCAATGTAAGAAACCTCTCTAGAATATGATTGGAGCTAGGAAAAGGCTGCCAAGTGAATAATTTGACTCATGCTTATGAGTCATAGTGAGATCATATCAAAGTCACTAGGGAACTTATAAGTTGAAGGAATCACTGGGCTCTACGAGGAATGTAAGTCTTCTTTCTCAGAGTTAAT
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AAAGGTATTTAAGAAAGTTGAAGATAATGAAAAGAAGCTCACGTTTACTTTAAATATTTCTTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTGAGAGGTGTCCTTTTGGAGGCCTAGAGCAATGTAACCCTTTCTTAATATGTGAAGTCTGGAGAAGGAAGATAAAGCCCTTGGTTCAGGGGCTTTCTTTAGGGCTGTCATTTAGAGCAAAGTCAGTTTTTTTAATAAGGCAATAACTTTTAAGAAAAAAATAAATAGTATATTGGGACTTGTGATATAACTGAAATCAGTAATTTTATTTGGAAAATGTTTGATAATAAATTATAGGGTATCAAGAGCAAGTTTTTGTATTTTTAGTTTGTTTACATAAAAATCGATTTGTGTAAACTGTACTGGACTTGAACAATCTGTTGACTTTTCCGTTTTGTTTATCCATATGCTCATTTTGGCCATTTAAAAATATCTATCTATGTAAATATAAAAGTGTCACATAAGTGTTAGTTATTATATGCCATGCTTTGACCATCTTCGTTTTTAACATGACCAATACAGGCTTTTTAATGGCCGACTATGTTTTTGAAAGCACAGTCATCTCAACATACAAGTAGAAAAGGAAGTAGACTGATGAAGAGGAATGTTAAGAGTAATCTTTTATGTCTTAAGATTGAAGCCACATTTCTTTCTTACCATTTTGTTACAGTCATCATCCTTGTGGCTCAGAATTGAACAGAGTAGTTGCACAGCTGCGCTGTCACAGAGTGTCCCTCATCTCATGTGTGTCCTCAGAGCCATTTGCACACAGGACTGATCACATGCATGCTGGTTGGTTTCTTGGCTGCTGTGAGCGCTTAAGAGCAGAGCGGGTCTCACTCCCCCACCCCTCAGCCCTGGACAGGGACCTTGCTGAGCTCTGGGCCTTCATTAGACTCACCAGTCACTTCGGGTTCTGCACAGAGCCTCATCATCCACTCCACAGAGAGCCCATCACAGTGGCTGGATAGATGGGAACTGACAACCCATAGCTGTGGGACAGGGATTTTTCCCTGGGTAAAAGTAATTGTTAAAAATTAAAAAAAAAAAAAACTCAACAACTCATCATCTCGAGGAGAAGTGACTGACGGCCTGCACCAACTTAGACAGTCACAGTCATGAAAAGTGCACAGGTGGGATTGCCCGAGTTGGCCATGAATTACCGTGATGGATCCATTTGGAAATGAAGTTGGTTGTGACATTTCTTCAAGTTTTGTTTCGCTTGAAGCTTGACTGGTAGATGGAGAATTTTGGCCTTATGTATCTTATGTGACTTGCATTACCCAGTCCAGTCCTCTGCCATTAATCTAAGGTCCGCAATGTATCAGGTATTTTACTGAGAATCTTGCTTACCTAATTCTCACAAAAAAAAAAACCTTGGGAGATGAGGGTGGAAACAGGATGAGAGGTCAGGTGACTTGTCTGAGGGCTGACGGTTTGTAATTGGAAGAGTCAGGGCCTAACCACTGGTCTCTTTGACACAAAAACTCATGCTCTTAGTGGCAAGCACAGTGTTCTCAAGATTGGGGGAAGCCAGGGAGGGACAGTGGGTTGTCTGCTACTAGTGGGTCAAAATTACATATTTAGTCATGAATGGTTCAGCTTTTACCATTTAAATAACAAATAAATGTTCTTTCTCCATAGGCATTAAAGACTATTCCAACTGGCCCACCATCCCGCAAGTGTACCTCAATGGCGAGTTTGTAGGGGGCTGTGACATTCTTCTGCAGAAGCACCAGAATGGGGACTTGGTGGAAGAACTGAAAAAGCTGGGGATCCACTCCGCCCTTTTAGATGAAAAGAAAGACCAAGACTCCAAGTGAGGGCGGCCAAGTCCTCGCTGAGCAGAGAGGGAGCCGTTCATGTCAGAGACTCACTGCCAGAAAAGCCTTACCCATTTTGGTTTTCACTATTGAGACCGCAACTGCTTGCACTGATCATTTTGGTTCGTGAGCAGTTGGTGATTTTAGTTGGTCTGGTGTTCGGGCTAAGAATATTTTATTGTGGACTTAATTACAACCACTGCACTGTAATGATTCAATGCTGTATTATGATATTGCTGTAAACAAAATTCATTCTTATATTGTCACTTATTCTTTGCCTGATTCAGAAGTTAAATAGGAGCTTTGGAATCATTATTCATGACCCCTCTGCAAATGTGTCAGTCTCCAAAGAGAGTATCTCCCCCCAAATTTTGTGTAGCTTCTTTTGTTATGGAAAATGGTGAACAAAAAAAGAAACTGTGATAACTGGGGCGTTGTTTTTTAAAATAAACTCCAGCACAGGGATGCTGTGCATGCCTGAGTTGATTCCGAAGTGCATATGTCTGTAAGGATTTGGAGTGCCTGCAGTGTTTTATGTGTGGGAAGTAAGGGTGAGTCTCATATTCTTCTATTAAATTTGCCACAAGAATTGCCGTCGAGCCCTGGTCTACTTTCTGGGGGAAGCAGCTGTTTGGATGGTGAGTCAACTGTGCAGCTGGAGGCGTGGGTGGGCTGGAGGGAGCAGAGGTGGGTGAGGCCGGAGGAGGCGGCCCCACCTGCCTATCTCTGGAGCCCTGTGCTTGGCACACTGCTACAGTTAGATAGGGAGACATCGTCAACAGTCCACCGAGCTAGGGGATTTAATGAGTATTTTACTTCTTAAAAAGTGGGGACTTTCTAAAAGAGGACATAATTTGGAATTGTGGCAGAGATTCTCCCAGTGTCTGGTGTCTTTATAAGACCTTTCCATGAGTTCTGCATCCCGAGACTGGGGCCTGGTAGAGCCTGGGGCTGTGCAGAGGCCCATGGGAAGGAAGCCCGCCTGGTGTGGCATGGAGGCTTTGTTCATCTCCAGGGACTTAAAGAGAGCGCTTGTCTAGAAACATATCTTTACGGTGGCAGAGGTGGGAAGAAGGATGCATTTTCTCATAATAAGGGCAAAAAGGACAGAACGGCTCTTTTCCCCAGAGCTATTCTAGAGGCTTGTTCTTCGTTGCTTATTTAATCTCCTTGAGTTCCTCTCGAGAATACTCTAAAAACAGACTTCCTCCATGAGGTCAGGCTAGAACTGATGGAGTTGCCCCTGCTCCCCTTCCCCAGAGGTTTTGGAAGGGGAAGGAAAGCTGTAGCCCCACGCCCCCACCCTGGGGACTGCCCCATCAGATTAGAGCACTGCTCCTCAGCAGTCACCCACCTCACCGTGTTAGAGAAAAGAAAAATAGATTATTCTCAGAAAAAGGTTATTACATTAATTGTCTGCTACATCCCATGATACCTTTATGTCTTCTGTAAGCTAAGGGACCTTAGGATCTAAGAGGAGGTTAAAACACATCCATTTGAGCCATTTGGTTTAGAAATGAGGGAAGCAGGAGCACTAGAAGGATCTACCTTGCCCTGTAGACAGAGTCACCATGAATAAGTCACTTCATACTGCCTCTGGATGGATACAGGCCGTGGACCAGAGGCCGGGTCTGCAAAATTGTCCCTTGCCATCACATCTAGTGAGGAGTGTGATACGTTTTCACAATTTTGCTTCTTTTGGCTTTTCCTTGAATCTGCCTGTGTGCCCTTAGGTTTCATCTGAAAAGCGAAATGATGAGAAACTTATTGATGGGAAGCATCAATGTAAGAAACCTCTCTAGAATATGATTGGAGCTAGGAAAAGGCTGCCAAGTGAATAATTTGACTCATGCTTATGAGTCATAGTGAGATCATATCAAAGTCACTAGGGAACTTATAAGTTGAAGGAATCACTGGGCTCTACGAGGAATGTAAGTCTTCTTTCTCAGAGTTAAT
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Task1_train_20304
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Consider a variant on Chromosome 14 in gene GLRX5 (glutaredoxin 5). Determine its clinical classification and disease relevance.
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Pathogenic; Sideroblastic anemia 3
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TTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTGAGAGGTGTCCTTTTGGAGGCCTAGAGCAATGTAACCCTTTCTTAATATGTGAAGTCTGGAGAAGGAAGATAAAGCCCTTGGTTCAGGGGCTTTCTTTAGGGCTGTCATTTAGAGCAAAGTCAGTTTTTTTAATAAGGCAATAACTTTTAAGAAAAAAATAAATAGTATATTGGGACTTGTGATATAACTGAAATCAGTAATTTTATTTGGAAAATGTTTGATAATAAATTATAGGGTATCAAGAGCAAGTTTTTGTATTTTTAGTTTGTTTACATAAAAATCGATTTGTGTAAACTGTACTGGACTTGAACAATCTGTTGACTTTTCCGTTTTGTTTATCCATATGCTCATTTTGGCCATTTAAAAATATCTATCTATGTAAATATAAAAGTGTCACATAAGTGTTAGTTATTATATGCCATGCTTTGACCATCTTCGTTTTTAACATGACCAATACAGGCTTTTTAATGGCCGACTATGTTTTTGAAAGCACAGTCATCTCAACATACAAGTAGAAAAGGAAGTAGACTGATGAAGAGGAATGTTAAGAGTAATCTTTTATGTCTTAAGATTGAAGCCACATTTCTTTCTTACCATTTTGTTACAGTCATCATCCTTGTGGCTCAGAATTGAACAGAGTAGTTGCACAGCTGCGCTGTCACAGAGTGTCCCTCATCTCATGTGTGTCCTCAGAGCCATTTGCACACAGGACTGATCACATGCATGCTGGTTGGTTTCTTGGCTGCTGTGAGCGCTTAAGAGCAGAGCGGGTCTCACTCCCCCACCCCTCAGCCCTGGACAGGGACCTTGCTGAGCTCTGGGCCTTCATTAGACTCACCAGTCACTTCGGGTTCTGCACAGAGCCTCATCATCCACTCCACAGAGAGCCCATCACAGTGGCTGGATAGATGGGAACTGACAACCCATAGCTGTGGGACAGGGATTTTTCCCTGGGTAAAAGTAATTGTTAAAAATTAAAAAAAAAAAAAACTCAACAACTCATCATCTCGAGGAGAAGTGACTGACGGCCTGCACCAACTTAGACAGTCACAGTCATGAAAAGTGCACAGGTGGGATTGCCCGAGTTGGCCATGAATTACCGTGATGGATCCATTTGGAAATGAAGTTGGTTGTGACATTTCTTCAAGTTTTGTTTCGCTTGAAGCTTGACTGGTAGATGGAGAATTTTGGCCTTATGTATCTTATGTGACTTGCATTACCCAGTCCAGTCCTCTGCCATTAATCTAAGGTCCGCAATGTATCAGGTATTTTACTGAGAATCTTGCTTACCTAATTCTCACAAAAAAAAAAACCTTGGGAGATGAGGGTGGAAACAGGATGAGAGGTCAGGTGACTTGTCTGAGGGCTGACGGTTTGTAATTGGAAGAGTCAGGGCCTAACCACTGGTCTCTTTGACACAAAAACTCATGCTCTTAGTGGCAAGCACAGTGTTCTCAAGATTGGGGGAAGCCAGGGAGGGACAGTGGGTTGTCTGCTACTAGTGGGTCAAAATTACATATTTAGTCATGAATGGTTCAGCTTTTACCATTTAAATAACAAATAAATGTTCTTTCTCCATAGGCATTAAAGACTATTCCAACTGGCCCACCATCCCGCAAGTGTACCTCAATGGCGAGTTTGTAGGGGGCTGTGACATTCTTCTGCAGATGCACCAGAATGGGGACTTGGTGGAAGAACTGAAAAAGCTGGGGATCCACTCCGCCCTTTTAGATGAAAAGAAAGACCAAGACTCCAAGTGAGGGCGGCCAAGTCCTCGCTGAGCAGAGAGGGAGCCGTTCATGTCAGAGACTCACTGCCAGAAAAGCCTTACCCATTTTGGTTTTCACTATTGAGACCGCAACTGCTTGCACTGATCATTTTGGTTCGTGAGCAGTTGGTGATTTTAGTTGGTCTGGTGTTCGGGCTAAGAATATTTTATTGTGGACTTAATTACAACCACTGCACTGTAATGATTCAATGCTGTATTATGATATTGCTGTAAACAAAATTCATTCTTATATTGTCACTTATTCTTTGCCTGATTCAGAAGTTAAATAGGAGCTTTGGAATCATTATTCATGACCCCTCTGCAAATGTGTCAGTCTCCAAAGAGAGTATCTCCCCCCAAATTTTGTGTAGCTTCTTTTGTTATGGAAAATGGTGAACAAAAAAAGAAACTGTGATAACTGGGGCGTTGTTTTTTAAAATAAACTCCAGCACAGGGATGCTGTGCATGCCTGAGTTGATTCCGAAGTGCATATGTCTGTAAGGATTTGGAGTGCCTGCAGTGTTTTATGTGTGGGAAGTAAGGGTGAGTCTCATATTCTTCTATTAAATTTGCCACAAGAATTGCCGTCGAGCCCTGGTCTACTTTCTGGGGGAAGCAGCTGTTTGGATGGTGAGTCAACTGTGCAGCTGGAGGCGTGGGTGGGCTGGAGGGAGCAGAGGTGGGTGAGGCCGGAGGAGGCGGCCCCACCTGCCTATCTCTGGAGCCCTGTGCTTGGCACACTGCTACAGTTAGATAGGGAGACATCGTCAACAGTCCACCGAGCTAGGGGATTTAATGAGTATTTTACTTCTTAAAAAGTGGGGACTTTCTAAAAGAGGACATAATTTGGAATTGTGGCAGAGATTCTCCCAGTGTCTGGTGTCTTTATAAGACCTTTCCATGAGTTCTGCATCCCGAGACTGGGGCCTGGTAGAGCCTGGGGCTGTGCAGAGGCCCATGGGAAGGAAGCCCGCCTGGTGTGGCATGGAGGCTTTGTTCATCTCCAGGGACTTAAAGAGAGCGCTTGTCTAGAAACATATCTTTACGGTGGCAGAGGTGGGAAGAAGGATGCATTTTCTCATAATAAGGGCAAAAAGGACAGAACGGCTCTTTTCCCCAGAGCTATTCTAGAGGCTTGTTCTTCGTTGCTTATTTAATCTCCTTGAGTTCCTCTCGAGAATACTCTAAAAACAGACTTCCTCCATGAGGTCAGGCTAGAACTGATGGAGTTGCCCCTGCTCCCCTTCCCCAGAGGTTTTGGAAGGGGAAGGAAAGCTGTAGCCCCACGCCCCCACCCTGGGGACTGCCCCATCAGATTAGAGCACTGCTCCTCAGCAGTCACCCACCTCACCGTGTTAGAGAAAAGAAAAATAGATTATTCTCAGAAAAAGGTTATTACATTAATTGTCTGCTACATCCCATGATACCTTTATGTCTTCTGTAAGCTAAGGGACCTTAGGATCTAAGAGGAGGTTAAAACACATCCATTTGAGCCATTTGGTTTAGAAATGAGGGAAGCAGGAGCACTAGAAGGATCTACCTTGCCCTGTAGACAGAGTCACCATGAATAAGTCACTTCATACTGCCTCTGGATGGATACAGGCCGTGGACCAGAGGCCGGGTCTGCAAAATTGTCCCTTGCCATCACATCTAGTGAGGAGTGTGATACGTTTTCACAATTTTGCTTCTTTTGGCTTTTCCTTGAATCTGCCTGTGTGCCCTTAGGTTTCATCTGAAAAGCGAAATGATGAGAAACTTATTGATGGGAAGCATCAATGTAAGAAACCTCTCTAGAATATGATTGGAGCTAGGAAAAGGCTGCCAAGTGAATAATTTGACTCATGCTTATGAGTCATAGTGAGATCATATCAAAGTCACTAGGGAACTTATAAGTTGAAGGAATCACTGGGCTCTACGAGGAATGTAAGTCTTCTTTCTCAGAGTTAATTAATAATTTTTTTCTATATGCCTAACAAATCTCTACCAAGTAGAAAATTGAAGATGCTAT
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TTAATTCTCGCACCCAGCTCTCAGTCATCATAAAGGTAAAAGTTTTGTAATCGGCATCATTGTAAAAAGTGAGTTTTGATAGACTTTGTATTTGAGGACAGAGTTTGAAGAAAGTAAAAAAACACACAAATTATGCTAGTTGTTTTTGTTGATGGAGCATCAAACATCACCATGATGAACAACTTGAATTCATCAGGGTATTCTACTATGTCTAGATATTTGGCATTATAAAGACATTTTGATGATTAATGGAATTTACCCTTTATTGGCAGCTGCCAAAGAGCTAGCTGTTGTTTCTTTACTAGCACCCAGAGTGGCTGAGAGGTGTCCTTTTGGAGGCCTAGAGCAATGTAACCCTTTCTTAATATGTGAAGTCTGGAGAAGGAAGATAAAGCCCTTGGTTCAGGGGCTTTCTTTAGGGCTGTCATTTAGAGCAAAGTCAGTTTTTTTAATAAGGCAATAACTTTTAAGAAAAAAATAAATAGTATATTGGGACTTGTGATATAACTGAAATCAGTAATTTTATTTGGAAAATGTTTGATAATAAATTATAGGGTATCAAGAGCAAGTTTTTGTATTTTTAGTTTGTTTACATAAAAATCGATTTGTGTAAACTGTACTGGACTTGAACAATCTGTTGACTTTTCCGTTTTGTTTATCCATATGCTCATTTTGGCCATTTAAAAATATCTATCTATGTAAATATAAAAGTGTCACATAAGTGTTAGTTATTATATGCCATGCTTTGACCATCTTCGTTTTTAACATGACCAATACAGGCTTTTTAATGGCCGACTATGTTTTTGAAAGCACAGTCATCTCAACATACAAGTAGAAAAGGAAGTAGACTGATGAAGAGGAATGTTAAGAGTAATCTTTTATGTCTTAAGATTGAAGCCACATTTCTTTCTTACCATTTTGTTACAGTCATCATCCTTGTGGCTCAGAATTGAACAGAGTAGTTGCACAGCTGCGCTGTCACAGAGTGTCCCTCATCTCATGTGTGTCCTCAGAGCCATTTGCACACAGGACTGATCACATGCATGCTGGTTGGTTTCTTGGCTGCTGTGAGCGCTTAAGAGCAGAGCGGGTCTCACTCCCCCACCCCTCAGCCCTGGACAGGGACCTTGCTGAGCTCTGGGCCTTCATTAGACTCACCAGTCACTTCGGGTTCTGCACAGAGCCTCATCATCCACTCCACAGAGAGCCCATCACAGTGGCTGGATAGATGGGAACTGACAACCCATAGCTGTGGGACAGGGATTTTTCCCTGGGTAAAAGTAATTGTTAAAAATTAAAAAAAAAAAAAACTCAACAACTCATCATCTCGAGGAGAAGTGACTGACGGCCTGCACCAACTTAGACAGTCACAGTCATGAAAAGTGCACAGGTGGGATTGCCCGAGTTGGCCATGAATTACCGTGATGGATCCATTTGGAAATGAAGTTGGTTGTGACATTTCTTCAAGTTTTGTTTCGCTTGAAGCTTGACTGGTAGATGGAGAATTTTGGCCTTATGTATCTTATGTGACTTGCATTACCCAGTCCAGTCCTCTGCCATTAATCTAAGGTCCGCAATGTATCAGGTATTTTACTGAGAATCTTGCTTACCTAATTCTCACAAAAAAAAAAACCTTGGGAGATGAGGGTGGAAACAGGATGAGAGGTCAGGTGACTTGTCTGAGGGCTGACGGTTTGTAATTGGAAGAGTCAGGGCCTAACCACTGGTCTCTTTGACACAAAAACTCATGCTCTTAGTGGCAAGCACAGTGTTCTCAAGATTGGGGGAAGCCAGGGAGGGACAGTGGGTTGTCTGCTACTAGTGGGTCAAAATTACATATTTAGTCATGAATGGTTCAGCTTTTACCATTTAAATAACAAATAAATGTTCTTTCTCCATAGGCATTAAAGACTATTCCAACTGGCCCACCATCCCGCAAGTGTACCTCAATGGCGAGTTTGTAGGGGGCTGTGACATTCTTCTGCAGATGCACCAGAATGGGGACTTGGTGGAAGAACTGAAAAAGCTGGGGATCCACTCCGCCCTTTCAGATGAAAAGAAAGACCAAGACTCCAAGTGAGGGCGGCCAAGTCCTCGCTGAGCAGAGAGGGAGCCGTTCATGTCAGAGACTCACTGCCAGAAAAGCCTTACCCATTTTGGTTTTCACTATTGAGACCGCAACTGCTTGCACTGATCATTTTGGTTCGTGAGCAGTTGGTGATTTTAGTTGGTCTGGTGTTCGGGCTAAGAATATTTTATTGTGGACTTAATTACAACCACTGCACTGTAATGATTCAATGCTGTATTATGATATTGCTGTAAACAAAATTCATTCTTATATTGTCACTTATTCTTTGCCTGATTCAGAAGTTAAATAGGAGCTTTGGAATCATTATTCATGACCCCTCTGCAAATGTGTCAGTCTCCAAAGAGAGTATCTCCCCCCAAATTTTGTGTAGCTTCTTTTGTTATGGAAAATGGTGAACAAAAAAAGAAACTGTGATAACTGGGGCGTTGTTTTTTAAAATAAACTCCAGCACAGGGATGCTGTGCATGCCTGAGTTGATTCCGAAGTGCATATGTCTGTAAGGATTTGGAGTGCCTGCAGTGTTTTATGTGTGGGAAGTAAGGGTGAGTCTCATATTCTTCTATTAAATTTGCCACAAGAATTGCCGTCGAGCCCTGGTCTACTTTCTGGGGGAAGCAGCTGTTTGGATGGTGAGTCAACTGTGCAGCTGGAGGCGTGGGTGGGCTGGAGGGAGCAGAGGTGGGTGAGGCCGGAGGAGGCGGCCCCACCTGCCTATCTCTGGAGCCCTGTGCTTGGCACACTGCTACAGTTAGATAGGGAGACATCGTCAACAGTCCACCGAGCTAGGGGATTTAATGAGTATTTTACTTCTTAAAAAGTGGGGACTTTCTAAAAGAGGACATAATTTGGAATTGTGGCAGAGATTCTCCCAGTGTCTGGTGTCTTTATAAGACCTTTCCATGAGTTCTGCATCCCGAGACTGGGGCCTGGTAGAGCCTGGGGCTGTGCAGAGGCCCATGGGAAGGAAGCCCGCCTGGTGTGGCATGGAGGCTTTGTTCATCTCCAGGGACTTAAAGAGAGCGCTTGTCTAGAAACATATCTTTACGGTGGCAGAGGTGGGAAGAAGGATGCATTTTCTCATAATAAGGGCAAAAAGGACAGAACGGCTCTTTTCCCCAGAGCTATTCTAGAGGCTTGTTCTTCGTTGCTTATTTAATCTCCTTGAGTTCCTCTCGAGAATACTCTAAAAACAGACTTCCTCCATGAGGTCAGGCTAGAACTGATGGAGTTGCCCCTGCTCCCCTTCCCCAGAGGTTTTGGAAGGGGAAGGAAAGCTGTAGCCCCACGCCCCCACCCTGGGGACTGCCCCATCAGATTAGAGCACTGCTCCTCAGCAGTCACCCACCTCACCGTGTTAGAGAAAAGAAAAATAGATTATTCTCAGAAAAAGGTTATTACATTAATTGTCTGCTACATCCCATGATACCTTTATGTCTTCTGTAAGCTAAGGGACCTTAGGATCTAAGAGGAGGTTAAAACACATCCATTTGAGCCATTTGGTTTAGAAATGAGGGAAGCAGGAGCACTAGAAGGATCTACCTTGCCCTGTAGACAGAGTCACCATGAATAAGTCACTTCATACTGCCTCTGGATGGATACAGGCCGTGGACCAGAGGCCGGGTCTGCAAAATTGTCCCTTGCCATCACATCTAGTGAGGAGTGTGATACGTTTTCACAATTTTGCTTCTTTTGGCTTTTCCTTGAATCTGCCTGTGTGCCCTTAGGTTTCATCTGAAAAGCGAAATGATGAGAAACTTATTGATGGGAAGCATCAATGTAAGAAACCTCTCTAGAATATGATTGGAGCTAGGAAAAGGCTGCCAAGTGAATAATTTGACTCATGCTTATGAGTCATAGTGAGATCATATCAAAGTCACTAGGGAACTTATAAGTTGAAGGAATCACTGGGCTCTACGAGGAATGTAAGTCTTCTTTCTCAGAGTTAATTAATAATTTTTTTCTATATGCCTAACAAATCTCTACCAAGTAGAAAATTGAAGATGCTAT
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Task1_train_20305
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Gene AK7 (adenylate kinase 7) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Spermatogenic failure 27
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AAATGGAAAGAAGGAAGGAAAGAAGGGAGAAAGGAAGGAAGAAAGGAGGGATGGAGGGAGGGAGGCAGGCCCAATGCACACATCTTTGGGTGCCTGATTAATCTTCTTAACATAAATTCCTAAAGTTTGCTGGGTCAAACTAGACATGGTTTGAGTTTTGATACATATTTAAAAACTGCCCTCCAGCAATGGTAAACCAGTTTATGTATCATCTAACAGGTGGCTATTTCCCTACACCTTCTCTAAACCTGCTTTCTCAATTTTACTCGCACATGTCAGGCTGATAAAAACTGTTCTCATTGTTTTAATATTCATTTCTCTGATCACTAATCTTACAGCTTTTTCTGTTTGTTAAGCATTTATGTTTCTTCTCATGTTGCGTATTTTCTTTGCCCCTGTTTGGGCTGTGTGACTTTTTCTTATTATTTTGCAAAAAGAACTCCTGATAAACTAGTTCAATAGAAACAGGAACGGCTCCAGTTGGCCTCCCAAGTCGTGCTGCTAGAGATCAAATCCCACTCCACTCTCTCTGTAGGTATGTGGCCTTGTGCAAGCTCCTGTCTGTGTCTCAGTTTCTCCATCTGTAAAGTGGGGATAATGATAGCACCTACTTCATACAGTCATTGTGGTGACTAAAGAGGTAATATACGTAAACTATGCACGTGCCTGGCAAGTAGTGTGCATCACATAGTATCCTCATCACATCTTAACTTTTTAATAATGTATTGCAGTTTTTCTTAATTCATGATTTATTTTTTAACATTATTTATGGTATTTTCTCTGACCACACAAAAGTTTCATGTTTATATGTACTCAAATTCACCCACCTGTTTCCCATTTTGATCTCTGGGTTGGCAATCTTGCTAAGAAAGACCTCCTTTCAAACAAATATCAGCTAGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTACGATCTCGGCTCACTGCAAGCTCCGCCTCCCCGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGTTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCAGCTAGGACTCTTTATCTTGCAAGTGATAGAAAAGCAAACTCAAAATGACTTCACCATAAAGAAAACCAGAAAAGTCCAGGGGTAGGGCTGGCTTCAGGTGAGGCTTGATATAGTGGCTCAAATGATGTCACCAAAGACTTAGGATCCCCCTCTCTGTCCTGCCTTGCATGGGAGGCTTCATTCTTAGGTGCACCTACCATGCATGGCAGGGCACTTGATGTGCTGATCTTTAACTAGAATTTTTTAAAAAGACAAGTCAACAATTTACAAGTTATTATTAGTCATGTATTTGTACTCGTACTGTTTACAATTTAGGTATTGTAAATTGTAACCAATTTTGATGTTGTGCTGATCCTTAATTAGAATCTATGGCCAGGAGCTGGCTGGATGATGGGCTTAAATCCCACTCAAACCAAACCACTAGGCTGAGAAGGGAGATTTCTCAAAAGAAATTTGGAATTATGATTCCCAAGAGAGAGGGTGGCTGTATGCTGAGCAAAGAATTGCACATGTCACTATCCCAATGCCCTCCAGACTTTCTAGTGGCATTTCTTTTTTTTTTTTTTTCTATTTTGCTTCATCTGGGCAGCTAGAAATTATTTTGGTGTAAGAAGTGATCCAATTTATTATTTTCCAAATGGCTAAGTTGTTGTAACACCATTTATGTCTTTTCTCTGCTGATTGGAAATGCCATCTGTATCATAGATGGTGACCATTTCTAGCAGTGTCTCAATGCACTGTAGGGTGAACTGTGTGAGTGTTCTCCCCTTTCTCACTACACATTTACTTTACCACCAAATATTCTATTTTAGAATAAACGACTGGAGGAAGTGAAAAGAGAAGAAAGAGAATTACTGGAGGCTCAGTCAATTCCCCTGAGAAACTATTTAATGACCTATGTGATGCCAACTCTTATTCAGGGCCTGAATGAATGTTGCAACGTCCGACCCGAAGACCCTGTTGATTTTCTGGTAACATATTTAATTTTTAAAAAAAGATCAATTTGAGTTTGGGTGTGGCGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTCAGGGGATCACTTGTGGTCAGGAGTTAGAGACCACCCTGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGCACGCGCTGTAGTCCCACCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGACGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAATCTGCCTGAATCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCCACCTCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGATGTGCACCACCACCCCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAATTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCTGGCCTAATCTGCCTGAATCTTAACAGAAAACCAGTTGAGATAGCAAAATTATGTTTCTGGTTCTTTGGGAAATAGCTTCTAATATATTCACCATTTATAATAAGATTTTTTTCCCTCATTGGTCAAACCCATGTAAGATTTTTATTATTCATTTGAAAGTAAAAAATGTATGTACTTTTACTTATTTATTTATTTATTATTTATTTTGATATAGAGTTTCACTCTTGTTGCTCAGGTTGGAATGCAATGGCACAATCTCGGCTTACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACACTCAGCTAATGTTTTGTATTTTAGTAGAGAGGAAGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCTTGGCCCAGGATGATTTTTAAATTGTAAACATTACTAATACAAATACATGACTAATAATAACTTGTAAACTGTTGACTTGTCTTTTTTTAAATTGTAGGCAGAATATCTCTTCAAGAACAATCCTGAAGCACAGTGAAACTTGAAAGATCTGGTATTATCTACCTTTACAGAACCACAGATCACTTATTATACTTTGAAAAATTGCTTTGAAAAATGCTTTTCCAGTTCTTAGAAAATTCTTTTTTTGTAGACAAATATTCTATAAACTAGAATCTCTATTAAAAGCTATATGACATGACTATGTCATTAAAACTATATTTGAAATGTAAATTGATAAAGACATTTGTGCATAGCTCATGAGACAAATACTGATTTAATATTTTATTCTTTAGTCAGATCTAAATATACCGCTTCTGTACACTAATGTTTATAGGTATTTATAGCATGAAGAAAATCAGACTATATATTGTAGACTATGTATTATTCTAACATGTAGGCTAATTTACATGACTTGTTATCGCCCCAATAACAATGTTATTAGAAATGGAAATAAATTGAAGTGATTTATGCCTGTTGACTCACAGTAAATCAGACAAGATTGGTGCCTGTAAGGTGGCTTTTTTTTTTTTTTTTTTTAAATGAAGCAATGGTTAGGGAAAGGTTGCTTTGAGTTCAGGGTCAGGATCCCAGACAATGAATCGGAGAGAACTGTAAACCTTTAGGCGGAGAAATCTGCATAACAGGATAATTCCAATCTTTGTGATAAGTGAGAAGTTGCTAA
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AAATGGAAAGAAGGAAGGAAAGAAGGGAGAAAGGAAGGAAGAAAGGAGGGATGGAGGGAGGGAGGCAGGCCCAATGCACACATCTTTGGGTGCCTGATTAATCTTCTTAACATAAATTCCTAAAGTTTGCTGGGTCAAACTAGACATGGTTTGAGTTTTGATACATATTTAAAAACTGCCCTCCAGCAATGGTAAACCAGTTTATGTATCATCTAACAGGTGGCTATTTCCCTACACCTTCTCTAAACCTGCTTTCTCAATTTTACTCGCACATGTCAGGCTGATAAAAACTGTTCTCATTGTTTTAATATTCATTTCTCTGATCACTAATCTTACAGCTTTTTCTGTTTGTTAAGCATTTATGTTTCTTCTCATGTTGCGTATTTTCTTTGCCCCTGTTTGGGCTGTGTGACTTTTTCTTATTATTTTGCAAAAAGAACTCCTGATAAACTAGTTCAATAGAAACAGGAACGGCTCCAGTTGGCCTCCCAAGTCGTGCTGCTAGAGATCAAATCCCACTCCACTCTCTCTGTAGGTATGTGGCCTTGTGCAAGCTCCTGTCTGTGTCTCAGTTTCTCCATCTGTAAAGTGGGGATAATGATAGCACCTACTTCATACAGTCATTGTGGTGACTAAAGAGGTAATATACGTAAACTATGCACGTGCCTGGCAAGTAGTGTGCATCACATAGTATCCTCATCACATCTTAACTTTTTAATAATGTATTGCAGTTTTTCTTAATTCATGATTTATTTTTTAACATTATTTATGGTATTTTCTCTGACCACACAAAAGTTTCATGTTTATATGTACTCAAATTCACCCACCTGTTTCCCATTTTGATCTCTGGGTTGGCAATCTTGCTAAGAAAGACCTCCTTTCAAACAAATATCAGCTAGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTACGATCTCGGCTCACTGCAAGCTCCGCCTCCCCGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGTTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCAGCTAGGACTCTTTATCTTGCAAGTGATAGAAAAGCAAACTCAAAATGACTTCACCATAAAGAAAACCAGAAAAGTCCAGGGGTAGGGCTGGCTTCAGGTGAGGCTTGATATAGTGGCTCAAATGATGTCACCAAAGACTTAGGATCCCCCTCTCTGTCCTGCCTTGCATGGGAGGCTTCATTCTTAGGTGCACCTACCATGCATGGCAGGGCACTTGATGTGCTGATCTTTAACTAGAATTTTTTAAAAAGACAAGTCAACAATTTACAAGTTATTATTAGTCATGTATTTGTACTCGTACTGTTTACAATTTAGGTATTGTAAATTGTAACCAATTTTGATGTTGTGCTGATCCTTAATTAGAATCTATGGCCAGGAGCTGGCTGGATGATGGGCTTAAATCCCACTCAAACCAAACCACTAGGCTGAGAAGGGAGATTTCTCAAAAGAAATTTGGAATTATGATTCCCAAGAGAGAGGGTGGCTGTATGCTGAGCAAAGAATTGCACATGTCACTATCCCAATGCCCTCCAGACTTTCTAGTGGCATTTCTTTTTTTTTTTTTTTCTATTTTGCTTCATCTGGGCAGCTAGAAATTATTTTGGTGTAAGAAGTGATCCAATTTATTATTTTCCAAATGGCTAAGTTGTTGTAACACCATTTATGTCTTTTCTCTGCTGATTGGAAATGCCATCTGTATCATAGATGGTGACCATTTCTAGCAGTGTCTCAATGCACTGTAGGGTGAACTGTGTGAGTGTTCTCCCCTTTCTCACTACACATTTACTTTACCACCAAATATTCTATTTTAGAATAAACGACTGGAGGAAGTGAAAAGAGAAGAAAGAGAATTACGGGAGGCTCAGTCAATTCCCCTGAGAAACTATTTAATGACCTATGTGATGCCAACTCTTATTCAGGGCCTGAATGAATGTTGCAACGTCCGACCCGAAGACCCTGTTGATTTTCTGGTAACATATTTAATTTTTAAAAAAAGATCAATTTGAGTTTGGGTGTGGCGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTCAGGGGATCACTTGTGGTCAGGAGTTAGAGACCACCCTGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGCACGCGCTGTAGTCCCACCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGACGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAATCTGCCTGAATCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCCACCTCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGATGTGCACCACCACCCCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAATTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCTGGCCTAATCTGCCTGAATCTTAACAGAAAACCAGTTGAGATAGCAAAATTATGTTTCTGGTTCTTTGGGAAATAGCTTCTAATATATTCACCATTTATAATAAGATTTTTTTCCCTCATTGGTCAAACCCATGTAAGATTTTTATTATTCATTTGAAAGTAAAAAATGTATGTACTTTTACTTATTTATTTATTTATTATTTATTTTGATATAGAGTTTCACTCTTGTTGCTCAGGTTGGAATGCAATGGCACAATCTCGGCTTACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACACTCAGCTAATGTTTTGTATTTTAGTAGAGAGGAAGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCTTGGCCCAGGATGATTTTTAAATTGTAAACATTACTAATACAAATACATGACTAATAATAACTTGTAAACTGTTGACTTGTCTTTTTTTAAATTGTAGGCAGAATATCTCTTCAAGAACAATCCTGAAGCACAGTGAAACTTGAAAGATCTGGTATTATCTACCTTTACAGAACCACAGATCACTTATTATACTTTGAAAAATTGCTTTGAAAAATGCTTTTCCAGTTCTTAGAAAATTCTTTTTTTGTAGACAAATATTCTATAAACTAGAATCTCTATTAAAAGCTATATGACATGACTATGTCATTAAAACTATATTTGAAATGTAAATTGATAAAGACATTTGTGCATAGCTCATGAGACAAATACTGATTTAATATTTTATTCTTTAGTCAGATCTAAATATACCGCTTCTGTACACTAATGTTTATAGGTATTTATAGCATGAAGAAAATCAGACTATATATTGTAGACTATGTATTATTCTAACATGTAGGCTAATTTACATGACTTGTTATCGCCCCAATAACAATGTTATTAGAAATGGAAATAAATTGAAGTGATTTATGCCTGTTGACTCACAGTAAATCAGACAAGATTGGTGCCTGTAAGGTGGCTTTTTTTTTTTTTTTTTTTAAATGAAGCAATGGTTAGGGAAAGGTTGCTTTGAGTTCAGGGTCAGGATCCCAGACAATGAATCGGAGAGAACTGTAAACCTTTAGGCGGAGAAATCTGCATAACAGGATAATTCCAATCTTTGTGATAAGTGAGAAGTTGCTAA
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Task1_train_20306
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An alteration has been detected in VRK1 (VRK serine/threonine kinase 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Pontocerebellar hypoplasia type 1A
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ATCTCTGCTCTTTCTAGCCATTTCTTTTTAGATATTTCTAGGCTAAGAACAAAGAAAACGCAGCTAACAACCTGAACAATAAGGGTTCCATTAATTGAAATAGTCTGGACTTGTACAGTATAATAAAATACAACTTATATCACTTTGTAGGTGACTAAAACATGCTGCCTTTGTTTATATGGAAATATTTTTGCAGCTCTGTTATCCTTCAGACATATGCTTTGGATGGGATTATTTTTCCAGTGTTAGATGTATGTGCTAGATCTAGCCACATATTTTTACTTCAGTTTCCTCTTGTGCCCAGATGCATGCATTTGTGACATTTACTCAGAATTAGAGATGTAATGTGTGGCTATGGAATGGAAGAAAGCCAAGTTTATTAGCTTTGTATGCTAATCAGACCCACATGTATATGCCCACGAATAAGTATGTATATAATATTAAAATTTACTTTTAATCATGAAGACTTGGCTTTAGAATATAGTATTTAGATATAGATAAAAGCCTGATCTAACAGTTCTTTAGATCATTATTATGATGTATGAAATGTTTTTATAAAGTAAATTGAAATTTGATTATTTTACAAGTGAAGAAACAGAGGAATAGAAGGTAACTAACATATCATGTGTCAGCATCATTAGCAGTCTTCTACTGGGTGTGCTTTTCTGTGTGGAAAGTAGCAGTTGTATTGCAACAAGTATTGACGGTTTGCTCTGTGCTCAATTTTAGAGTCTGTAAGATAAAGTATAAAATGTATAATTTTCGTTCAAATTGAGACAAGATTAATTACAAGTATAACATATACTTATCTTAAAAAAGTATATAAAGTCAAGTGATTACACTGTAGCTATGTGGTCATTTAACATTTTTATTAAAAATAAAAAGCCTTTCAGAATTAAGTATTTGCTGTTGTTTGCATTTTGGATCTAAATTGTTTGGAGTGTTATGGAATGACCTTGTAGGTGAACCCACCTTCAGATGCCAGTATTTTGTTTCTGTGCTTTAAAGGGTTATATGTGCAGTGATTTTGACTTTAGTTTGTCTTGGTGCTTGGAAATTTATAGGTGTACTTGGTAGATTATGGCCTTGCTTATCGGTACTGCCCAGAAGGAGTTCATAAAGAATACAAAGAAGACCCCAAAAGATGTCACGATGGCACTATTGAATTCACGAGCATCGATGCACACAATGGCGTGGGTATGTCAGTAGTACTGGAGTGAGAAATAGACTGCTAATGTTTTCACCCAGATTCCTACATAGTTCTTAATTATGCATAAGTAAATGAATAGATAAATAAAAATTGAAAAGGCACAGTGGCATGAGGAAAGAAGGCAGAGGTGAGACTCCTACAATTGTATTCCAGGACCATCTGTGTTCTTCTGTCCTGCCTTTTCCTCGCAGCCTTCAAAGATAACCAAGAAGGTGGTAGTGGTTCATTCAGCTGCCATGAGGATTTCTTTTTGGTTTTATTTAGTTTAATTGGAATGTTTGTTTTTGTGTTTTTTCTCAAGTTTCTTATGTATCTACAACTTTGTAACAGCTAACTTTTATTTTGTTACCTGTTAAGTTAGTTTATTTCTTCAGCAGTCATTTCTTCTGTGCTCAAAGCTGTGGAAGAACTCAAATACCCAGTTCTCTGGGCCTCTTAATAGCATATAAAAATTTTAAGAATATCTTCAAGTTTTCCAAAGGAAAACTAGTTTTATTTCTAGACTAACAGTCTCCGCTTGAAACCCTGAAATTTACCAATTTGGGTTTTAAAGTAGATTATTAGCTAGAAGTTAATTGGGAGGTAAGCTATTTCTTTTATACTGTCCAATGTTCAGTACCTAGGTGAAATGCAGTCAAAATTTTATGATGAAAAACAGACTGTGGAGTTGACTTGTTTTATGTTATTACTTTATATATACTTTAAATTATACATTAAAAATTATTTCAGTCTACCTAATGTTCTTCTCTTGCATTTGTAGCCCCATCAAGACGTGGTGATTTGGAAATACTTGGTTATTGCATGATCCAATGGCTTACTGGCCATCTTCCTTGGGAGGATAATTTGAAAGATCCTAAATATGTTAGAGATTCCAAAATTAGGTAAAGGAAAACTTAAGTTATTTCTAGCAAAATCATGATAAGCCAAATGTTTTTAGTCACAATTTCTTGATAGGAACTATAGTTTCAACTGATACTGATATAGAAATAAGAAAGTACTTGTTAAACAGTAAGGTTCCTTGGTCTTTTGTTTATTTTAGAAAAATGTCTGTAAGCATATTTAGGATGTAGCACAATATAGCTTAATGTGCTATATATTTTTATTTCATATTAACATATGACATCAAGCTTCAGTGACTCATTCTTTAATTTTTAACAGATACAGAGAAAATATTGCAAGTTTGATGGACAAATGTTTTCCTGAGAAAAACAAACCAGGTAGGAAATGACTTCTTCAGTGTTAATAGGGATTTTGTTTTCTGGGGATAAAAAGGCATGATATCCATGGAATAGCCCTTAATGTAAGATGTTAGGTGGTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAGCCTCATCTCTACTAAAAGTACAAAAAATTAGCCAGGCGTGGTGACGCACGCCTGTGGTCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAGAAAAAAAAATATGTTAGATGGTTTGTTAAATGAATACTTGAGCCTCATTCAATTATTATTCAGTGCTTTTAGCAAAGGAAGCAAATTTCATTCATACATTAAGTTAGTAAATATTGAGGCTTTATTGTGTGCCAGGGACTGGGGGTACATCAGTGAACAAAACAAATATCCCTGCCCTCATGAAGCTAGCATTGTAGTTGGAGGATTTTAGACAGTAAACACATGAGCAAAATTTATATGTTCCCCCTGGTTAGTACTGTGGAACTAGAAGAAAACAGGGAATAGAATTAGGGGGATGGGGATGGGGTGGGTAGTAAAGTAGTGAGGAGGACTGTAATTTTAAGTAGGCTGTCCAGGGACAGCCTCACTTGGAAGGTGACATTTGAGCAGTTGTAGGAAGGAGGTGAGGGAGGGAGTGAGCTGTGTAGAAGTCTGGGGAAGAGAGTTCTAGGCAGAAGGGACACTAGTGCCCAGGAGATGCGAGGACTGTGTCTTCATAGGTAAACATGAGGGCTTTGGCTTTTACTTCAAGGAAGAGTGTGAGGTTTGTAGTAGAAGAGTGACATGAACTGCTTATCCTGAGGGGAAGGGTCTCCTGCTTCTGGCATGGGGATGGACTGCTGAAGGAGCAAGGATGGGCCTAGGCAGAAAGCAGGTTAAGAGGCCACTGCAGTAACCCATGCAAGAGAAGTAGCAGCCAAAGAGTGAGAATTGGTCAGTCTGGATATATTCAGAAGTCTTTCTAAGCCTTTGCTCAGTTGTCTCCTTTTCAGGGAGGTCTATCCTGACCTTATGCTATTTAAAATTGCAACCTACTCCCCATATCAATAAATACAATGTGGGTTTCTCAGAATTATCCCATGGACCTCATAGCAATCAGTAGCCTCTCCCTCCTGGCCGAATGAGTCACTTACCTTAATTTCCAACACCAAATATTTGTGTTTAAAATTTATAGAAATGGAGTTAATACAGTGAATGAAATATGTAACAATTCCTGTCCTCTTGAAATTATTGTTTACTTCTGTTAGTGTCCTTTTCTTTCACTTAGTAATGTATTTGTGAAATTCATCCCCATTATCGCATGTTTTTTTTTGTTATTGTTGTTGTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAGTCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAAGCCTTGACCTCCTGAGCTCAAGAGATCTTCCCACCTCAGTCTCTGAAGTAGCTGGGACTACAGGCACACGCCACCACACCTGGC
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ATCTCTGCTCTTTCTAGCCATTTCTTTTTAGATATTTCTAGGCTAAGAACAAAGAAAACGCAGCTAACAACCTGAACAATAAGGGTTCCATTAATTGAAATAGTCTGGACTTGTACAGTATAATAAAATACAACTTATATCACTTTGTAGGTGACTAAAACATGCTGCCTTTGTTTATATGGAAATATTTTTGCAGCTCTGTTATCCTTCAGACATATGCTTTGGATGGGATTATTTTTCCAGTGTTAGATGTATGTGCTAGATCTAGCCACATATTTTTACTTCAGTTTCCTCTTGTGCCCAGATGCATGCATTTGTGACATTTACTCAGAATTAGAGATGTAATGTGTGGCTATGGAATGGAAGAAAGCCAAGTTTATTAGCTTTGTATGCTAATCAGACCCACATGTATATGCCCACGAATAAGTATGTATATAATATTAAAATTTACTTTTAATCATGAAGACTTGGCTTTAGAATATAGTATTTAGATATAGATAAAAGCCTGATCTAACAGTTCTTTAGATCATTATTATGATGTATGAAATGTTTTTATAAAGTAAATTGAAATTTGATTATTTTACAAGTGAAGAAACAGAGGAATAGAAGGTAACTAACATATCATGTGTCAGCATCATTAGCAGTCTTCTACTGGGTGTGCTTTTCTGTGTGGAAAGTAGCAGTTGTATTGCAACAAGTATTGACGGTTTGCTCTGTGCTCAATTTTAGAGTCTGTAAGATAAAGTATAAAATGTATAATTTTCGTTCAAATTGAGACAAGATTAATTACAAGTATAACATATACTTATCTTAAAAAAGTATATAAAGTCAAGTGATTACACTGTAGCTATGTGGTCATTTAACATTTTTATTAAAAATAAAAAGCCTTTCAGAATTAAGTATTTGCTGTTGTTTGCATTTTGGATCTAAATTGTTTGGAGTGTTATGGAATGACCTTGTAGGTGAACCCACCTTCAGATGCCAGTATTTTGTTTCTGTGCTTTAAAGGGTTATATGTGCAGTGATTTTGACTTTAGTTTGTCTTGGTGCTTGGAAATTTATAGGTGTACTTGGTAGATTATGGCCTTGCTTATCGGTACTGCCCAGAAGGAGTTCATAAAGAATACAAAGAAGACCCCAAAAGATGTCACGATGGCACTATTGAATTCACGAGCATCGATGCACACAATGGCGTGGGTATGTCAGTAGTACTGGAGTGAGAAATAGACTGCTAATGTTTTCACCCAGATTCCTACATAGTTCTTAATTATGCATAAGTAAATGAATAGATAAATAAAAATTGAAAAGGCACAGTGGCATGAGGAAAGAAGGCAGAGGTGAGACTCCTACAATTGTATTCCAGGACCATCTGTGTTCTTCTGTCCTGCCTTTTCCTCGCAGCCTTCAAAGATAACCAAGAAGGTGGTAGTGGTTCATTCAGCTGCCATGAGGATTTCTTTTTGGTTTTATTTAGTTTAATTGGAATGTTTGTTTTTGTGTTTTTTCTCAAGTTTCTTATGTATCTACAACTTTGTAACAGCTAACTTTTATTTTGTTACCTGTTAAGTTAGTTTATTTCTTCAGCAGTCATTTCTTCTGTGCTCAAAGCTGTGGAAGAACTCAAATACCCAGTTCTCTGGGCCTCTTAATAGCATATAAAAATTTTAAGAATATCTTCAAGTTTTCCAAAGGAAAACTAGTTTTATTTCTAGACTAACAGTCTCCGCTTGAAACCCTGAAATTTACCAATTTGGGTTTTAAAGTAGATTATTAGCTAGAAGTTAATTGGGAGGTAAGCTATTTCTTTTATACTGTCCAATGTTCAGTACCTAGGTGAAATGCAGTCAAAATTTTATGATGAAAAACAGACTGTGGAGTTGACTTGTTTTATGTTATTACTTTATATATACTTTAAATTATACATTAAAAATTATTTCAGTCTACCTAATGTTCTTCTCTTGCATTTGTAGCCCCATCAAGACGTGGTGATTTGGAAATACTTGGTTATTGCATGATCCAATGGCTTACTGGCCATCTTCCTTGGGAGGGTAATTTGAAAGATCCTAAATATGTTAGAGATTCCAAAATTAGGTAAAGGAAAACTTAAGTTATTTCTAGCAAAATCATGATAAGCCAAATGTTTTTAGTCACAATTTCTTGATAGGAACTATAGTTTCAACTGATACTGATATAGAAATAAGAAAGTACTTGTTAAACAGTAAGGTTCCTTGGTCTTTTGTTTATTTTAGAAAAATGTCTGTAAGCATATTTAGGATGTAGCACAATATAGCTTAATGTGCTATATATTTTTATTTCATATTAACATATGACATCAAGCTTCAGTGACTCATTCTTTAATTTTTAACAGATACAGAGAAAATATTGCAAGTTTGATGGACAAATGTTTTCCTGAGAAAAACAAACCAGGTAGGAAATGACTTCTTCAGTGTTAATAGGGATTTTGTTTTCTGGGGATAAAAAGGCATGATATCCATGGAATAGCCCTTAATGTAAGATGTTAGGTGGTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAGCCTCATCTCTACTAAAAGTACAAAAAATTAGCCAGGCGTGGTGACGCACGCCTGTGGTCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACACCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAGAAAAAAAAATATGTTAGATGGTTTGTTAAATGAATACTTGAGCCTCATTCAATTATTATTCAGTGCTTTTAGCAAAGGAAGCAAATTTCATTCATACATTAAGTTAGTAAATATTGAGGCTTTATTGTGTGCCAGGGACTGGGGGTACATCAGTGAACAAAACAAATATCCCTGCCCTCATGAAGCTAGCATTGTAGTTGGAGGATTTTAGACAGTAAACACATGAGCAAAATTTATATGTTCCCCCTGGTTAGTACTGTGGAACTAGAAGAAAACAGGGAATAGAATTAGGGGGATGGGGATGGGGTGGGTAGTAAAGTAGTGAGGAGGACTGTAATTTTAAGTAGGCTGTCCAGGGACAGCCTCACTTGGAAGGTGACATTTGAGCAGTTGTAGGAAGGAGGTGAGGGAGGGAGTGAGCTGTGTAGAAGTCTGGGGAAGAGAGTTCTAGGCAGAAGGGACACTAGTGCCCAGGAGATGCGAGGACTGTGTCTTCATAGGTAAACATGAGGGCTTTGGCTTTTACTTCAAGGAAGAGTGTGAGGTTTGTAGTAGAAGAGTGACATGAACTGCTTATCCTGAGGGGAAGGGTCTCCTGCTTCTGGCATGGGGATGGACTGCTGAAGGAGCAAGGATGGGCCTAGGCAGAAAGCAGGTTAAGAGGCCACTGCAGTAACCCATGCAAGAGAAGTAGCAGCCAAAGAGTGAGAATTGGTCAGTCTGGATATATTCAGAAGTCTTTCTAAGCCTTTGCTCAGTTGTCTCCTTTTCAGGGAGGTCTATCCTGACCTTATGCTATTTAAAATTGCAACCTACTCCCCATATCAATAAATACAATGTGGGTTTCTCAGAATTATCCCATGGACCTCATAGCAATCAGTAGCCTCTCCCTCCTGGCCGAATGAGTCACTTACCTTAATTTCCAACACCAAATATTTGTGTTTAAAATTTATAGAAATGGAGTTAATACAGTGAATGAAATATGTAACAATTCCTGTCCTCTTGAAATTATTGTTTACTTCTGTTAGTGTCCTTTTCTTTCACTTAGTAATGTATTTGTGAAATTCATCCCCATTATCGCATGTTTTTTTTTGTTATTGTTGTTGTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAGTCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAAGCCTTGACCTCCTGAGCTCAAGAGATCTTCCCACCTCAGTCTCTGAAGTAGCTGGGACTACAGGCACACGCCACCACACCTGGC
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Task1_train_20307
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Here’s a variant in BCL11B (BCL11 transcription factor B) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Combined immunodeficiency
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ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCATTGCTCAGGCTACTACCGGGTTAAAAAAAAAACAAAGAAGGGATGGATACCCAACAAAATCTCTTAAAGGAATTCAAACAGAAAAAATAATAATAAAAAGTACCTGCACATGCCAAAAAAATTACAAAACCCAATAAATACAGAAATTATTGCACAGTTAAAAGGCTCCACAATTTGTACTGCCTTAATCAACCCTCGGGTTTCCATAGGACTTCGCAGACACAGGTTAGGTTGGAGTGCCGCCTCCCCTGGGCCCCGGGGACACGCGGGGTGCGGGGTGGCGGTGACACGGAGGCAAGTCAGGTCAGCATTCTCTCGGTTGGCAACGGTTCCACTGTACAGGTGCGGGGCGCCGGGGCCCGCGCGCTTAGCTCCTCTCGGCCTGCTCGATTTTGACGTCGTTAGTCAGCAAGTGCTCGCCGTGCCACTTTTTCATGTGTTTCTCCAGGGTGCTGTAGACGCTGAAGGGCATCTGGCAGATGTCGCAGCGGTACACCTCCTTGCCGATCTGCCCGTGCGTCTTCATGTGGCGCGTGAGCTTGCTGCTCTGCGCGCACGCGTAGTTGCACAGCTCGCACTTGTAAGGCCGCTCGCCGGTGTGGCTCCGCCGGTGCACCGTCAAGTTGCTGCAGTTCTTGAACACCTTGCCGCAGTACTCGCACGTGTCGCTGCGGCGGCCCTCCTTGGAGCTGGGCCGCCCGGGGCCCGGGCCGCCCAGGTGCGGGGTGCTGCCTCCGCTGGCCGTGCCGCTGCGGCCCGAGAGGCCGCCGTCCAGCAGGTCCCCGGGCGGCGTGGAGAAGCGCAGGCTGCCGTTCTCGGACGAGTGCTCGGACGACGTGGCGAAGGGCGACTGTCGTGCGTCCGTGAAGCCCAGGAAGGGGTCCTTCATGAAGTGCCGCGACGCCGCGTAGCCCACCAGCCACTGCGAGTACACGTTCTCGGACGGGATGAGCGCGGCGGGCGGCAGCTCCAGGTCCTTCTCCACCTTGATGCGCTTGGCGGCGCTGTTGAGCCCGGGGCTGGGCAGCGGCGCGGGCTTGCGCGGGAAGAGCCCGGGGAAGGGCTCGGTGCCTGGCGCGAAGCCGCCCCCGCGCCCGTTGACCGCGCCGCCCGCGCCCGCGTCCCCGCAGCCGCCCGCGTCGTCGTCGTCGCCCGCGTCCCCGCCGCCCGCCGCACGCTTCAGGAAGGCGCCGCGCTTCTGCTTGTCGGCCAGGAGCTCGCCGTACTGCGGCAGTGCGCCTAGGCCCACGTTCTCCATGACCTTGCCCAGCACCAGCGCCTTCTCGTCAGCCAGCGCCTTGGCCGCGCCGCCCCCCGCGCCCGGGACCCCGGGCACCCCACCACCGCCGTTCTCGCGGTTGCGGCTCAGCTCCGAGTCCATGCTGAAGCTCGACTCGGGCCGGCTCTCGTTCTCCAGTAGCAGCTCCTCCTCCTCCTCCTCCTCCTCCTCGTCCTCCTCCTCCGGCTCGTGGCCCAGCGACGGGTCGCTCTCGTGGTGGCGGAAGTCACCGTCGGCCGCCTTGAGGCCCTCGCCCGCCAGCTCGCTGGTGCCGGGCTCGGGGGAGCTGGCGGCCGAGAGCCCGTCGTCGGAGCGGCCGGCCAGCGAGCCGGCCTTGTGCATGTGCGTCTTCATGTGGCGCTTGAGCTTGCTGGCCTGCGAGCACGCGTGGTCGCACAGCTGGCACTTGTAGGGCTTCTCGCCCGTGTGACTGCGCCGGTGCACGATGAGATTGCTCTGGAACTTGAAGGTCTTGCCGCAGAACTCGCACGACTTGCTCTTGGCTGGCGGCTGCGGGGGCGGCGTGCCGCCAGGGGGCATGGGCGGCAGCGGCGGCGTGCTCAGGAACGGGGACTTGGGGCTGGGCTGGAAGGGGTTCAGGAGCCGGTGCATAGGGTTGCCGCGGCCCGGGGACACGGGCGGCGGCGTGGAGCTGTTGCCCGCCAGCTCGCGGAGCCGCCGCGAGAAGTCCATGGCGGGCGAGTCGATGGCCATGGGGTTCAGGCGCATGACTCGGTCGAAGGCACTGGGGTGCTGGGCGACGAGCCCCATCTCCTCGGCACTGAGGCGGTGCGGGTCCAGGTGGTGGCGCGGCGGGGGACTGAAGAGAGGCGGCGTGCCCGGCAGGCGGCCCTCGCCGAAGCCCGGGTGGTCCCGCAGGATGGGGCCCGTCATGCGCAGCAGGTTGAAGGGGTTGCTGTCGCCCAGGAAATTCATGAGCGGGGACTGCGCCACGGCCTCCGGCCCGAGCGGCGGCGGGATGGTGAGCCGCGGCGTGAGCGAGCTGCTGGCCGGCCCGGGCTCCAGGTAGATGCGGAAGCCGTGCGTGTTCTGCGCGTGCTGCAGCAGGAACCACGCGCTGTTGAAGGGCTGCTTGCATGTTGTGCAAATGTAGCTGGAAGGCTCATCTTTACCTGGGGAAACACACGGACAGAAAGGCAGAGACAGCGTGAGAAGCGGCAGCGGGGCGCGGGCACCGCAGGGCCACTGGCCTGGGGGACGCGGCCCGGGCTGATCCGGGATCCCAGTGCCCTGCCTGACAGGGGCTGCAGGGCCGCTTGCAAGCAGGCCCGGCCTTGTCTCCTCCTGGCTGGGGGGCCGAAGACGCAGGTCTGTGGGCGGGCCGCCCTGGCCACCCGGGCGCCAGCGACTTACTTCAATTGTGTAAGACCCGCCTTGCTCCCCCAAAGAAAAGGGATTCTGATCTCCATTACCTCCGAGGCCACGGGAGATCGTGTTTGTGAGAATACGGTCCAGTAGTAGGAATTCTGTCAAGGCTGGACTGTGTAACAGCCCTGGCAAATCCCAGCCCTCGAGGATGCTCCACACCCGAAACCATCTAGGCCAGGGCTTCTCAGTCAAGGCACTACTGACATTTACATCCTAATTCTTTGGGCGGTGGGGGCTGTCCTGCGCATTGCAGGATGTTTAGCAACATCCTCTGCCTGCACCCACTAGATAGATGCCAGGAGCATCCACCTCCCCCGGTTGCGAGGACCAAAAATGTCTCCAGGCCTTGCCGAATCTTCCCAGGGAGGGGGGCAAGATCACCGACCCCTTTGAGAACAACCAATTCTGATAATATTTGATTCCAGGGAGTTGTACAGAAACACAAATCAAACTGTACTATCCTGCAAACTTTTTTTTTTTTAAGAGAAATAGCTGCAATACCTCTGCAACATTTGGGATTTTTAGCTATAGGAAATTCTCGTGTTTCCTACACCACCGTCTGTGCAGAAAGCACTGTACACCTGAATATGGATTCCTAGGAACAGAAAAAATTTAACATGCTGTGAAGACCGGCTACTACTGTGACAGCTGCCCCCACCCCGTGTCCTCACACACACGCCCAAACACCGCTTGGAATTCCACCTCCAGACCCCAGGGAAGGCGGGGGCACACTGGCCTACATGAGTCTTTCAAAGTCCTCTGCCAGAATACTAAGCAATGAAAGAACATCCTCACATCTGACAGGGCAGTCAGGATGAACAGTGGCAAATGCTGATGTGTTAGCAACTGGCTCTGGTGACACGGGCAGCAAATTGTAGCGAACACTCGTGGTATGGAGCCAAAACGTCATCGTCTGTGTCCATCACTGAGACAATCACAAAATGGAGGCTGAACATTTCCTCCGGAACCCATCCTGCAAGTGCCCTCCTGCACCTGGGGGTGAAGCTCGCCGCTTTTCCAGTATGTACCTCTCCTAATGCTCTGCATAAAAGAGACGGTGCAGACAGGACCCGTCTTGCAGCATTGCACTCACTAGCTGGGGATGCAAG
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ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCATTGCTCAGGCTACTACCGGGTTAAAAAAAAAACAAAGAAGGGATGGATACCCAACAAAATCTCTTAAAGGAATTCAAACAGAAAAAATAATAATAAAAAGTACCTGCACATGCCAAAAAAATTACAAAACCCAATAAATACAGAAATTATTGCACAGTTAAAAGGCTCCACAATTTGTACTGCCTTAATCAACCCTCGGGTTTCCATAGGACTTCGCAGACACAGGTTAGGTTGGAGTGCCGCCTCCCCTGGGCCCCGGGGACACGCGGGGTGCGGGGTGGCGGTGACACGGAGGCAAGTCAGGTCAGCATTCTCTCGGTTGGCAACGGTTCCACTGTACAGGTGCGGGGCGCCGGGGCCCGCGCGCTTAGCTCCTCTCGGCCTGCTCGATTTTGACGTCGTTAGTCAGCAAGTGCTCGCCGTGCCACTTTTTCATGTGTTTCTCCAGGGTGCTGTAGACGCTGAAGGGCATCTGGCAGATGTCGCAGCGGTACACCTCCTTGCCGATCTGCCCGTGCGTCTTCATGTGGCGCGTGAGCTTGCTGCTCTGCGCGCACGCGTAGTTGCACAGCTCGCACTTGTAAGGCCGCTCGCCGGTGTGGCTCCGCCGGTGCACCGTCAAGTTGCTGCAGTTCTTGAACACCTTGCCGCAGTACTCGCACGTGTCGCTGCGGCGGCCCTCCTTGGAGCTGGGCCGCCCGGGGCCCGGGCCGCCCAGGTGCGGGGTGCTGCCTCCGCTGGCCGTGCCGCTGCGGCCCGAGAGGCCGCCGTCCAGCAGGTCCCCGGGCGGCGTGGAGAAGCGCAGGCTGCCGTTCTCGGACGAGTGCTCGGACGACGTGGCGAAGGGCGACTGTCGTGCGTCCGTGAAGCCCAGGAAGGGGTCCTTCATGAAGTGCCGCGACGCCGCGTAGCCCACCAGCCACTGCGAGTACACGTTCTCGGACGGGATGAGCGCGGCGGGCGGCAGCTCCAGGTCCTTCTCCACCTTGATGCGCTTGGCGGCGCTGTTGAGCCCGGGGCTGGGCAGCGGCGCGGGCTTGCGCGGGAAGAGCCCGGGGAAGGGCTCGGTGCCTGGCGCGAAGCCGCCCCCGCGCCCGTTGACCGCGCCGCCCGCGCCCGCGTCCCCGCAGCCGCCCGCGTCGTCGTCGTCGCCCGCGTCCCCGCCGCCCGCCGCACGCTTCAGGAAGGCGCCGCGCTTCTGCTTGTCGGCCAGGAGCTCGCCGTACTGCGGCAGTGCGCCTAGGCCCACGTTCTCCATGACCTTGCCCAGCACCAGCGCCTTCTCGTCAGCCAGCGCCTTGGCCGCGCCGCCCCCCGCGCCCGGGACCCCGGGCACCCCACCACCGCCGTTCTCGCGGTTGCGGCTCAGCTCCGAGTCCATGCTGAAGCTCGACTCGGGCCGGCTCTCGTTCTCCAGTAGCAGCTCCTCCTCCTCCTCCTCCTCCTCCTCGTCCTCCTCCTCCGGCTCGTGGCCCAGCGACGGGTCGCTCTCGTGGTGGCGGAAGTCACCGTCGGCCGCCTTGAGGCCCTCGCCCGCCAGCTCGCTGGTGCCGGGCTCGGGGGAGCTGGCGGCCGAGAGCCCGTCGTCGGAGCGGCCGGCCAGCGAGCCGGCCTTGTGCATGTGCGTCTTCATGTGGCGCTTGAGCTTGCTGGCCTGCGAGCACGCGTGGTCGCACAGCTGGCACTTGTAGGGCTTCTCGCCCGTGTGACTGCGCCGGTGCACGATGAGCTTGCTCTGGAACTTGAAGGTCTTGCCGCAGAACTCGCACGACTTGCTCTTGGCTGGCGGCTGCGGGGGCGGCGTGCCGCCAGGGGGCATGGGCGGCAGCGGCGGCGTGCTCAGGAACGGGGACTTGGGGCTGGGCTGGAAGGGGTTCAGGAGCCGGTGCATAGGGTTGCCGCGGCCCGGGGACACGGGCGGCGGCGTGGAGCTGTTGCCCGCCAGCTCGCGGAGCCGCCGCGAGAAGTCCATGGCGGGCGAGTCGATGGCCATGGGGTTCAGGCGCATGACTCGGTCGAAGGCACTGGGGTGCTGGGCGACGAGCCCCATCTCCTCGGCACTGAGGCGGTGCGGGTCCAGGTGGTGGCGCGGCGGGGGACTGAAGAGAGGCGGCGTGCCCGGCAGGCGGCCCTCGCCGAAGCCCGGGTGGTCCCGCAGGATGGGGCCCGTCATGCGCAGCAGGTTGAAGGGGTTGCTGTCGCCCAGGAAATTCATGAGCGGGGACTGCGCCACGGCCTCCGGCCCGAGCGGCGGCGGGATGGTGAGCCGCGGCGTGAGCGAGCTGCTGGCCGGCCCGGGCTCCAGGTAGATGCGGAAGCCGTGCGTGTTCTGCGCGTGCTGCAGCAGGAACCACGCGCTGTTGAAGGGCTGCTTGCATGTTGTGCAAATGTAGCTGGAAGGCTCATCTTTACCTGGGGAAACACACGGACAGAAAGGCAGAGACAGCGTGAGAAGCGGCAGCGGGGCGCGGGCACCGCAGGGCCACTGGCCTGGGGGACGCGGCCCGGGCTGATCCGGGATCCCAGTGCCCTGCCTGACAGGGGCTGCAGGGCCGCTTGCAAGCAGGCCCGGCCTTGTCTCCTCCTGGCTGGGGGGCCGAAGACGCAGGTCTGTGGGCGGGCCGCCCTGGCCACCCGGGCGCCAGCGACTTACTTCAATTGTGTAAGACCCGCCTTGCTCCCCCAAAGAAAAGGGATTCTGATCTCCATTACCTCCGAGGCCACGGGAGATCGTGTTTGTGAGAATACGGTCCAGTAGTAGGAATTCTGTCAAGGCTGGACTGTGTAACAGCCCTGGCAAATCCCAGCCCTCGAGGATGCTCCACACCCGAAACCATCTAGGCCAGGGCTTCTCAGTCAAGGCACTACTGACATTTACATCCTAATTCTTTGGGCGGTGGGGGCTGTCCTGCGCATTGCAGGATGTTTAGCAACATCCTCTGCCTGCACCCACTAGATAGATGCCAGGAGCATCCACCTCCCCCGGTTGCGAGGACCAAAAATGTCTCCAGGCCTTGCCGAATCTTCCCAGGGAGGGGGGCAAGATCACCGACCCCTTTGAGAACAACCAATTCTGATAATATTTGATTCCAGGGAGTTGTACAGAAACACAAATCAAACTGTACTATCCTGCAAACTTTTTTTTTTTTAAGAGAAATAGCTGCAATACCTCTGCAACATTTGGGATTTTTAGCTATAGGAAATTCTCGTGTTTCCTACACCACCGTCTGTGCAGAAAGCACTGTACACCTGAATATGGATTCCTAGGAACAGAAAAAATTTAACATGCTGTGAAGACCGGCTACTACTGTGACAGCTGCCCCCACCCCGTGTCCTCACACACACGCCCAAACACCGCTTGGAATTCCACCTCCAGACCCCAGGGAAGGCGGGGGCACACTGGCCTACATGAGTCTTTCAAAGTCCTCTGCCAGAATACTAAGCAATGAAAGAACATCCTCACATCTGACAGGGCAGTCAGGATGAACAGTGGCAAATGCTGATGTGTTAGCAACTGGCTCTGGTGACACGGGCAGCAAATTGTAGCGAACACTCGTGGTATGGAGCCAAAACGTCATCGTCTGTGTCCATCACTGAGACAATCACAAAATGGAGGCTGAACATTTCCTCCGGAACCCATCCTGCAAGTGCCCTCCTGCACCTGGGGGTGAAGCTCGCCGCTTTTCCAGTATGTACCTCTCCTAATGCTCTGCATAAAAGAGACGGTGCAGACAGGACCCGTCTTGCAGCATTGCACTCACTAGCTGGGGATGCAAG
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Task1_train_20308
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Consider a variant on Chromosome 14 in gene BCL11B (BCL11 transcription factor B). Determine its clinical classification and disease relevance.
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Pathogenic; Immunodeficiency 49
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ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCATTGCTCAGGCTACTACCGGGTTAAAAAAAAAACAAAGAAGGGATGGATACCCAACAAAATCTCTTAAAGGAATTCAAACAGAAAAAATAATAATAAAAAGTACCTGCACATGCCAAAAAAATTACAAAACCCAATAAATACAGAAATTATTGCACAGTTAAAAGGCTCCACAATTTGTACTGCCTTAATCAACCCTCGGGTTTCCATAGGACTTCGCAGACACAGGTTAGGTTGGAGTGCCGCCTCCCCTGGGCCCCGGGGACACGCGGGGTGCGGGGTGGCGGTGACACGGAGGCAAGTCAGGTCAGCATTCTCTCGGTTGGCAACGGTTCCACTGTACAGGTGCGGGGCGCCGGGGCCCGCGCGCTTAGCTCCTCTCGGCCTGCTCGATTTTGACGTCGTTAGTCAGCAAGTGCTCGCCGTGCCACTTTTTCATGTGTTTCTCCAGGGTGCTGTAGACGCTGAAGGGCATCTGGCAGATGTCGCAGCGGTACACCTCCTTGCCGATCTGCCCGTGCGTCTTCATGTGGCGCGTGAGCTTGCTGCTCTGCGCGCACGCGTAGTTGCACAGCTCGCACTTGTAAGGCCGCTCGCCGGTGTGGCTCCGCCGGTGCACCGTCAAGTTGCTGCAGTTCTTGAACACCTTGCCGCAGTACTCGCACGTGTCGCTGCGGCGGCCCTCCTTGGAGCTGGGCCGCCCGGGGCCCGGGCCGCCCAGGTGCGGGGTGCTGCCTCCGCTGGCCGTGCCGCTGCGGCCCGAGAGGCCGCCGTCCAGCAGGTCCCCGGGCGGCGTGGAGAAGCGCAGGCTGCCGTTCTCGGACGAGTGCTCGGACGACGTGGCGAAGGGCGACTGTCGTGCGTCCGTGAAGCCCAGGAAGGGGTCCTTCATGAAGTGCCGCGACGCCGCGTAGCCCACCAGCCACTGCGAGTACACGTTCTCGGACGGGATGAGCGCGGCGGGCGGCAGCTCCAGGTCCTTCTCCACCTTGATGCGCTTGGCGGCGCTGTTGAGCCCGGGGCTGGGCAGCGGCGCGGGCTTGCGCGGGAAGAGCCCGGGGAAGGGCTCGGTGCCTGGCGCGAAGCCGCCCCCGCGCCCGTTGACCGCGCCGCCCGCGCCCGCGTCCCCGCAGCCGCCCGCGTCGTCGTCGTCGCCCGCGTCCCCGCCGCCCGCCGCACGCTTCAGGAAGGCGCCGCGCTTCTGCTTGTCGGCCAGGAGCTCGCCGTACTGCGGCAGTGCGCCTAGGCCCACGTTCTCCATGACCTTGCCCAGCACCAGCGCCTTCTCGTCAGCCAGCGCCTTGGCCGCGCCGCCCCCCGCGCCCGGGACCCCGGGCACCCCACCACCGCCGTTCTCGCGGTTGCGGCTCAGCTCCGAGTCCATGCTGAAGCTCGACTCGGGCCGGCTCTCGTTCTCCAGTAGCAGCTCCTCCTCCTCCTCCTCCTCCTCCTCGTCCTCCTCCTCCGGCTCGTGGCCCAGCGACGGGTCGCTCTCGTGGTGGCGGAAGTCACCGTCGGCCGCCTTGAGGCCCTCGCCCGCCAGCTCGCTGGTGCCGGGCTCGGGGGAGCTGGCGGCCGAGAGCCCGTCGTCGGAGCGGCCGGCCAGCGAGCCGGCCTTGTGCATGTGCGTCTTCATGTGGCGCTTGAGCTTGCTGGCCTGCGAGCACGCGTGGTCGCACAGCTGGCACTTGTAGGGCTTCTCGCCCGTGTGACTGCGCCGGTGCACGATGAGATTGCTCTGGAACTTGAAGGTCTTGCCGCAGAACTCGCACGACTTGCTCTTGGCTGGCGGCTGCGGGGGCGGCGTGCCGCCAGGGGGCATGGGCGGCAGCGGCGGCGTGCTCAGGAACGGGGACTTGGGGCTGGGCTGGAAGGGGTTCAGGAGCCGGTGCATAGGGTTGCCGCGGCCCGGGGACACGGGCGGCGGCGTGGAGCTGTTGCCCGCCAGCTCGCGGAGCCGCCGCGAGAAGTCCATGGCGGGCGAGTCGATGGCCATGGGGTTCAGGCGCATGACTCGGTCGAAGGCACTGGGGTGCTGGGCGACGAGCCCCATCTCCTCGGCACTGAGGCGGTGCGGGTCCAGGTGGTGGCGCGGCGGGGGACTGAAGAGAGGCGGCGTGCCCGGCAGGCGGCCCTCGCCGAAGCCCGGGTGGTCCCGCAGGATGGGGCCCGTCATGCGCAGCAGGTTGAAGGGGTTGCTGTCGCCCAGGAAATTCATGAGCGGGGACTGCGCCACGGCCTCCGGCCCGAGCGGCGGCGGGATGGTGAGCCGCGGCGTGAGCGAGCTGCTGGCCGGCCCGGGCTCCAGGTAGATGCGGAAGCCGTGCGTGTTCTGCGCGTGCTGCAGCAGGAACCACGCGCTGTTGAAGGGCTGCTTGCATGTTGTGCAAATGTAGCTGGAAGGCTCATCTTTACCTGGGGAAACACACGGACAGAAAGGCAGAGACAGCGTGAGAAGCGGCAGCGGGGCGCGGGCACCGCAGGGCCACTGGCCTGGGGGACGCGGCCCGGGCTGATCCGGGATCCCAGTGCCCTGCCTGACAGGGGCTGCAGGGCCGCTTGCAAGCAGGCCCGGCCTTGTCTCCTCCTGGCTGGGGGGCCGAAGACGCAGGTCTGTGGGCGGGCCGCCCTGGCCACCCGGGCGCCAGCGACTTACTTCAATTGTGTAAGACCCGCCTTGCTCCCCCAAAGAAAAGGGATTCTGATCTCCATTACCTCCGAGGCCACGGGAGATCGTGTTTGTGAGAATACGGTCCAGTAGTAGGAATTCTGTCAAGGCTGGACTGTGTAACAGCCCTGGCAAATCCCAGCCCTCGAGGATGCTCCACACCCGAAACCATCTAGGCCAGGGCTTCTCAGTCAAGGCACTACTGACATTTACATCCTAATTCTTTGGGCGGTGGGGGCTGTCCTGCGCATTGCAGGATGTTTAGCAACATCCTCTGCCTGCACCCACTAGATAGATGCCAGGAGCATCCACCTCCCCCGGTTGCGAGGACCAAAAATGTCTCCAGGCCTTGCCGAATCTTCCCAGGGAGGGGGGCAAGATCACCGACCCCTTTGAGAACAACCAATTCTGATAATATTTGATTCCAGGGAGTTGTACAGAAACACAAATCAAACTGTACTATCCTGCAAACTTTTTTTTTTTTAAGAGAAATAGCTGCAATACCTCTGCAACATTTGGGATTTTTAGCTATAGGAAATTCTCGTGTTTCCTACACCACCGTCTGTGCAGAAAGCACTGTACACCTGAATATGGATTCCTAGGAACAGAAAAAATTTAACATGCTGTGAAGACCGGCTACTACTGTGACAGCTGCCCCCACCCCGTGTCCTCACACACACGCCCAAACACCGCTTGGAATTCCACCTCCAGACCCCAGGGAAGGCGGGGGCACACTGGCCTACATGAGTCTTTCAAAGTCCTCTGCCAGAATACTAAGCAATGAAAGAACATCCTCACATCTGACAGGGCAGTCAGGATGAACAGTGGCAAATGCTGATGTGTTAGCAACTGGCTCTGGTGACACGGGCAGCAAATTGTAGCGAACACTCGTGGTATGGAGCCAAAACGTCATCGTCTGTGTCCATCACTGAGACAATCACAAAATGGAGGCTGAACATTTCCTCCGGAACCCATCCTGCAAGTGCCCTCCTGCACCTGGGGGTGAAGCTCGCCGCTTTTCCAGTATGTACCTCTCCTAATGCTCTGCATAAAAGAGACGGTGCAGACAGGACCCGTCTTGCAGCATTGCACTCACTAGCTGGGGATGCAAG
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ATCTCCATTCCAGTTCTGAAACAAAGTGCTACGACTTGAAAGATTGTTATCCGCTGTACATCCACACCCCCCACCCCAAAAACAAAAACCAAAAAAAAAATTAAAAAATAATTAAAAAAAAAACTGCATGCCACTTTTTATTTCAGGACAAAAAAAAGGAAGGAATGAAAAAGTAAACAACTTTAAAAGTCATTTGAGTGTTGGCTTCTTCACAAGAAATTACACATGCTTAGCTTAAATTTCAAAAAAGCAGCACCACCCCTCCCCCCAAATTATAATTTAAAAGATATGCTTCCCCTCTAACATTGCTTGCGAGTCATTGCTCAGGCTACTACCGGGTTAAAAAAAAAACAAAGAAGGGATGGATACCCAACAAAATCTCTTAAAGGAATTCAAACAGAAAAAATAATAATAAAAAGTACCTGCACATGCCAAAAAAATTACAAAACCCAATAAATACAGAAATTATTGCACAGTTAAAAGGCTCCACAATTTGTACTGCCTTAATCAACCCTCGGGTTTCCATAGGACTTCGCAGACACAGGTTAGGTTGGAGTGCCGCCTCCCCTGGGCCCCGGGGACACGCGGGGTGCGGGGTGGCGGTGACACGGAGGCAAGTCAGGTCAGCATTCTCTCGGTTGGCAACGGTTCCACTGTACAGGTGCGGGGCGCCGGGGCCCGCGCGCTTAGCTCCTCTCGGCCTGCTCGATTTTGACGTCGTTAGTCAGCAAGTGCTCGCCGTGCCACTTTTTCATGTGTTTCTCCAGGGTGCTGTAGACGCTGAAGGGCATCTGGCAGATGTCGCAGCGGTACACCTCCTTGCCGATCTGCCCGTGCGTCTTCATGTGGCGCGTGAGCTTGCTGCTCTGCGCGCACGCGTAGTTGCACAGCTCGCACTTGTAAGGCCGCTCGCCGGTGTGGCTCCGCCGGTGCACCGTCAAGTTGCTGCAGTTCTTGAACACCTTGCCGCAGTACTCGCACGTGTCGCTGCGGCGGCCCTCCTTGGAGCTGGGCCGCCCGGGGCCCGGGCCGCCCAGGTGCGGGGTGCTGCCTCCGCTGGCCGTGCCGCTGCGGCCCGAGAGGCCGCCGTCCAGCAGGTCCCCGGGCGGCGTGGAGAAGCGCAGGCTGCCGTTCTCGGACGAGTGCTCGGACGACGTGGCGAAGGGCGACTGTCGTGCGTCCGTGAAGCCCAGGAAGGGGTCCTTCATGAAGTGCCGCGACGCCGCGTAGCCCACCAGCCACTGCGAGTACACGTTCTCGGACGGGATGAGCGCGGCGGGCGGCAGCTCCAGGTCCTTCTCCACCTTGATGCGCTTGGCGGCGCTGTTGAGCCCGGGGCTGGGCAGCGGCGCGGGCTTGCGCGGGAAGAGCCCGGGGAAGGGCTCGGTGCCTGGCGCGAAGCCGCCCCCGCGCCCGTTGACCGCGCCGCCCGCGCCCGCGTCCCCGCAGCCGCCCGCGTCGTCGTCGTCGCCCGCGTCCCCGCCGCCCGCCGCACGCTTCAGGAAGGCGCCGCGCTTCTGCTTGTCGGCCAGGAGCTCGCCGTACTGCGGCAGTGCGCCTAGGCCCACGTTCTCCATGACCTTGCCCAGCACCAGCGCCTTCTCGTCAGCCAGCGCCTTGGCCGCGCCGCCCCCCGCGCCCGGGACCCCGGGCACCCCACCACCGCCGTTCTCGCGGTTGCGGCTCAGCTCCGAGTCCATGCTGAAGCTCGACTCGGGCCGGCTCTCGTTCTCCAGTAGCAGCTCCTCCTCCTCCTCCTCCTCCTCCTCGTCCTCCTCCTCCGGCTCGTGGCCCAGCGACGGGTCGCTCTCGTGGTGGCGGAAGTCACCGTCGGCCGCCTTGAGGCCCTCGCCCGCCAGCTCGCTGGTGCCGGGCTCGGGGGAGCTGGCGGCCGAGAGCCCGTCGTCGGAGCGGCCGGCCAGCGAGCCGGCCTTGTGCATGTGCGTCTTCATGTGGCGCTTGAGCTTGCTGGCCTGCGAGCACGCGTGGTCGCACAGCTGGCACTTGTAGGGCTTCTCGCCCGTGTGACTGCGCCGGTGCACGATGAGCTTGCTCTGGAACTTGAAGGTCTTGCCGCAGAACTCGCACGACTTGCTCTTGGCTGGCGGCTGCGGGGGCGGCGTGCCGCCAGGGGGCATGGGCGGCAGCGGCGGCGTGCTCAGGAACGGGGACTTGGGGCTGGGCTGGAAGGGGTTCAGGAGCCGGTGCATAGGGTTGCCGCGGCCCGGGGACACGGGCGGCGGCGTGGAGCTGTTGCCCGCCAGCTCGCGGAGCCGCCGCGAGAAGTCCATGGCGGGCGAGTCGATGGCCATGGGGTTCAGGCGCATGACTCGGTCGAAGGCACTGGGGTGCTGGGCGACGAGCCCCATCTCCTCGGCACTGAGGCGGTGCGGGTCCAGGTGGTGGCGCGGCGGGGGACTGAAGAGAGGCGGCGTGCCCGGCAGGCGGCCCTCGCCGAAGCCCGGGTGGTCCCGCAGGATGGGGCCCGTCATGCGCAGCAGGTTGAAGGGGTTGCTGTCGCCCAGGAAATTCATGAGCGGGGACTGCGCCACGGCCTCCGGCCCGAGCGGCGGCGGGATGGTGAGCCGCGGCGTGAGCGAGCTGCTGGCCGGCCCGGGCTCCAGGTAGATGCGGAAGCCGTGCGTGTTCTGCGCGTGCTGCAGCAGGAACCACGCGCTGTTGAAGGGCTGCTTGCATGTTGTGCAAATGTAGCTGGAAGGCTCATCTTTACCTGGGGAAACACACGGACAGAAAGGCAGAGACAGCGTGAGAAGCGGCAGCGGGGCGCGGGCACCGCAGGGCCACTGGCCTGGGGGACGCGGCCCGGGCTGATCCGGGATCCCAGTGCCCTGCCTGACAGGGGCTGCAGGGCCGCTTGCAAGCAGGCCCGGCCTTGTCTCCTCCTGGCTGGGGGGCCGAAGACGCAGGTCTGTGGGCGGGCCGCCCTGGCCACCCGGGCGCCAGCGACTTACTTCAATTGTGTAAGACCCGCCTTGCTCCCCCAAAGAAAAGGGATTCTGATCTCCATTACCTCCGAGGCCACGGGAGATCGTGTTTGTGAGAATACGGTCCAGTAGTAGGAATTCTGTCAAGGCTGGACTGTGTAACAGCCCTGGCAAATCCCAGCCCTCGAGGATGCTCCACACCCGAAACCATCTAGGCCAGGGCTTCTCAGTCAAGGCACTACTGACATTTACATCCTAATTCTTTGGGCGGTGGGGGCTGTCCTGCGCATTGCAGGATGTTTAGCAACATCCTCTGCCTGCACCCACTAGATAGATGCCAGGAGCATCCACCTCCCCCGGTTGCGAGGACCAAAAATGTCTCCAGGCCTTGCCGAATCTTCCCAGGGAGGGGGGCAAGATCACCGACCCCTTTGAGAACAACCAATTCTGATAATATTTGATTCCAGGGAGTTGTACAGAAACACAAATCAAACTGTACTATCCTGCAAACTTTTTTTTTTTTAAGAGAAATAGCTGCAATACCTCTGCAACATTTGGGATTTTTAGCTATAGGAAATTCTCGTGTTTCCTACACCACCGTCTGTGCAGAAAGCACTGTACACCTGAATATGGATTCCTAGGAACAGAAAAAATTTAACATGCTGTGAAGACCGGCTACTACTGTGACAGCTGCCCCCACCCCGTGTCCTCACACACACGCCCAAACACCGCTTGGAATTCCACCTCCAGACCCCAGGGAAGGCGGGGGCACACTGGCCTACATGAGTCTTTCAAAGTCCTCTGCCAGAATACTAAGCAATGAAAGAACATCCTCACATCTGACAGGGCAGTCAGGATGAACAGTGGCAAATGCTGATGTGTTAGCAACTGGCTCTGGTGACACGGGCAGCAAATTGTAGCGAACACTCGTGGTATGGAGCCAAAACGTCATCGTCTGTGTCCATCACTGAGACAATCACAAAATGGAGGCTGAACATTTCCTCCGGAACCCATCCTGCAAGTGCCCTCCTGCACCTGGGGGTGAAGCTCGCCGCTTTTCCAGTATGTACCTCTCCTAATGCTCTGCATAAAAGAGACGGTGCAGACAGGACCCGTCTTGCAGCATTGCACTCACTAGCTGGGGATGCAAG
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Task1_train_20309
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This genomic variant is located on Chromosome 14, within the CCNK (cyclin K) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Intellectual developmental disorder with hypertelorism and distinctive facies
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ACCAGAACAACAGACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAATTCCCAAGATATGTAAGTGTTTGAATTTTATTGTAATTCTCTGTCATATGTTATTATTTCCACACAGTTTGGTGGACTAATTATAAGCTCTATTTTTCTCATATTTTCCAGAAAGTATTTATTTTTATATGGTATATACTGCATATAAACAAAATCAAGTTTGAACTTTTTTTATTCCAATTAGCCATGTTCAAATCTTTTCACTTAGGCCAATATGGACCATAGTCATATTGCGCTTTGTATGAAAGTTTACTCCCGTGGTACCTTTCCCAGCATAAATTTGGGCTTATAATTGAGACTCAACAAAGACCAAGAAAGCAAAATGGAACAGAAGTTGTCTATGCCATATCACTCATTCTTCGGTTACTCCTCAAGACGTGCATTGTGTCTTACTCTCTGTGGGAGATAGAGTAGCTTTCAGTCCAGGATAAGTGGTATGACATGCACAGAACACGTGATGGAAAGTGAGGCCATCAGAAGATACTGATAAAAGAGTTGTGGCATTCAAGGAGGAGACAACTTACATCTTGGAGAGAGCAGGGAAAGTGCTAGGAAGAAGGTGCCAGCATTAAGGTAAGCCTTAAACGTACATAGGGCATAGCCATGCCGTGATGGGCTAGGTCAGTGGTCCAACAGAAGCTAGCATAAGCAGAGGCAGGGGGAACCATGTGACACATTGTCAGCCCAGCCAGGAGCTTGATTTGGCAGGAAGGAAATGATGAGACCCTGGGTGGATAGGTAGACTGGGTCAGACCACGATAAGCCTCGAATGCCAGACTTCAGAAATTTGGCTTCAGTGGGTGAACAATGCAGTAATTAAAAGGTTTCGTGAAAATGACAGACTTAACATTAAAGTCATTGTGTTGATTTGTTAGCTAAGATTTTAGTTAGATTTATATACATGCCTTCCTCACTGGTTGTGAAGTTCTTGAAGAAGGAGACCATGTTGGAATCAGTTTTGTACCCCCGGCAGAGTGTCTGACATCTAGTGTGATCAGGATTATGTGAGGAGAGTGGCATGTAGGAAGGATTGGAGTGGGCAAAGAGAAGCTGAAGACAGAGCAGTTCAGACCCCAGTGATATAGGGACTGAGCTAAGGTTGAGGCAACTGGAGGGACAGTTTCTTCATCCATTCAGGCTGCTATAACAATATGCCTTAGACCCAATAATTTACACACAACAGAAACTTAACTCTTCACAGTTGTAGAGACTGGGAGGTGTAAGATCAAGGTGCTGGCAGATTCTGTGTCTGGTAAGGGTTTGTTCCTCATAAAAGGGCTCCTTGCCGCATCCTCAAATGGTGGAAGGGAGGAACAAGCCCCTTGGGCCTCTTTTATAAGGGCAGTAATCCCATTCAGAATCATTTCCCAAAGGCCTCACTTCTTCATACCGCCACCTTGGGAATTAGGTCTCAAGCTATGAATTAGGACATAAACATTCAGACCATAGCAGAAAGAAAAGGAAGCATGGGCAGTGCTGAGATGGATTCCACAGGACTGTGCTAGAAGGAAAAGGAAGCATGGGCAGTGCTGCTGAGATGGATTCCGCGGGACTGTGTTTAGTTGTGCTCTTTCTTTTTCCACGGCAAAGCTTGCTGTTTAGGGAGTTAATTTCAGATTGGAATATGAGAAGAAAATTTATTTATGTGACTCTTTTCCTTTTTGGCATTTTCTTTGTTTACATGACTTTTTTTTTAAGAAAGTTAAATTTTAAATAATTTATGAAGCTAGAGTTTGGGGGATTTATATGTATAAAATTTCCTTCAAGCTTCTAGAGTATCGGAGTATTTGTGAATGATAAAAAGAAAGGTAGGGGAATGAGGAAGACCAGTTTATTACGAAGGCCAAAATTTATTGTATCTATTTCTGTGTGACCTTTGATAACAAAAATCAAGAACTTTTGTTTCCCTTTTAGGTGACAGGAGCCTGTTGCCTCTTTCTGGCTGGGAAAGTAGAAGAAACACCAAAAAAATGTAAAGATATCATCAAAACAGCTCGTAGTTTATTAAATGATGTACAATTTGGCCAGTTTGGAGATGACCCAAAGGTAAGAATGATAATAACTTCCTGCCTTCTGGTCTTGATTCCTTATGGTAGTATTGTACAGTTCCACATGTTGACAGTGCCTGTAGCCCTTGTGTCTGCCAGTCTCTTGAGTTCCTAAGAGGGCCTTCTGTAGAAGTTACTTGATGCTTTTGTAAGAAAGGAGGGAAGATCGTGTAGCCTACACTTACTCAGTGCTTCCTTATGTGCCCAGCAGTATTCTAAGTACTTTGGGGCAGTGGCACATTTCATGGATATGAGCAAAAATCCTCTTAATTGCCATTAGGACTCTGCTTCTTAAGTGCAGTGGTGATGGCAGGGTTACAACTCCAGCTAGCTTCTGGGTCAAACAAAAGTATGTATGCTGTATGTACACATACACATGCCTACATATGCCATGTGTCTTTTGCTTCTAAAGAATGTTGGAAGGTATCAACATTTGCAGCATTTTTATGCACCCAGAGCTTGATACTGGTCACACCAGCCATCCTATCTTTTCCATACAGCTCACGCCAGTGTCAGCAAGTGGTGCTCAAATAATTGTACATATTTTGTTGTGTTTTTAAAATACCACTTTTAGGGACCCATGGCAGTGTTCCTCCACTCCCATTCGCATCAAGTTCCCCTTGTTGCAACCTCAGTAACACCTGTTAATTATCCTTCATAACATTTATCACAGTTTGCAATTAAATAGATTTTCAAAAATACTTTAGGCCAAGCCGGGCAGATTGCTTGAGCCCAGGAATTCAAGACCAGCCTAGCCAACATAGCGAAACCCCATCTCTACTATATAAGAATAAACTGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTACCCTCCAGCCTGGGCGACGGAGCAAAACTCCATCTCAAAAAAAAATAAATAAACTAATATTACTTTAAAAAAAAAAAACCTTTATTATTTTTTGCTGGGCATGGTGGCACGCACCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCAGGACGAGAAAGCAAGACTCCACCTCAAGAAAAAAAAAAAATGCTTTTTTTTTTTTTAGAGCAGTTTTATGTTCACAGCAAAAATGAGTGGAAAGTACAGAGATTTCCCATATACCCCCCACCCAACACATGCACAGCTTCCCCCATTTTCAGCATCCCCCCGACCAAAGTGGTACATTTGCTATGACTGATGAGCCTGCATTGACACATCACCCAGAGTCCAAACTTTACATTAGGGTTCATTCTCAGTGTTGTACATTCTGTGGGTTTGGACATACGTATAGTAACATGTAGCCACCATTATAGTATCATGTAGTCTATTTTCATAGCCTTAAAAATTCTCTGTGCTCCACCTGTTTGTCTCCTTCTCCCCGCTAACCTCTGGCAACCACTGATATTTTTACTGTCTCTATAGTTTCACCATTTCCAGAATGTCATCGAATTGGAATCATATAGGATGTAGCTTTTTCAGATTGGTCTCTTTCACTTAGTGGTGTGCATTTAGATAGTAGTATCCATTAGATGATTTTTATCAAATTATCACACACATAACTCCCTCCCCTTCTCAGCTGTAAGATGCATGAAAGCAAAGACTATCTGTTTTGTCTAATGCCTCATTCAGTGGCAGGACAGAGTAGGCATTCAGCAAGTACTCGTGGAATAAATGTCAAACTAATGGTCTGAGGAAATTTCTAAATCACAGTTAAAGC
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ACCAGAACAACAGACACTATGATACCCTGGCAACTGGAATAATTTATTTTCATCGCTTCTATATGTTTCATTCCTTCAAGCAATTCCCAAGATATGTAAGTGTTTGAATTTTATTGTAATTCTCTGTCATATGTTATTATTTCCACACAGTTTGGTGGACTAATTATAAGCTCTATTTTTCTCATATTTTCCAGAAAGTATTTATTTTTATATGGTATATACTGCATATAAACAAAATCAAGTTTGAACTTTTTTTATTCCAATTAGCCATGTTCAAATCTTTTCACTTAGGCCAATATGGACCATAGTCATATTGCGCTTTGTATGAAAGTTTACTCCCGTGGTACCTTTCCCAGCATAAATTTGGGCTTATAATTGAGACTCAACAAAGACCAAGAAAGCAAAATGGAACAGAAGTTGTCTATGCCATATCACTCATTCTTCGGTTACTCCTCAAGACGTGCATTGTGTCTTACTCTCTGTGGGAGATAGAGTAGCTTTCAGTCCAGGATAAGTGGTATGACATGCACAGAACACGTGATGGAAAGTGAGGCCATCAGAAGATACTGATAAAAGAGTTGTGGCATTCAAGGAGGAGACAACTTACATCTTGGAGAGAGCAGGGAAAGTGCTAGGAAGAAGGTGCCAGCATTAAGGTAAGCCTTAAACGTACATAGGGCATAGCCATGCCGTGATGGGCTAGGTCAGTGGTCCAACAGAAGCTAGCATAAGCAGAGGCAGGGGGAACCATGTGACACATTGTCAGCCCAGCCAGGAGCTTGATTTGGCAGGAAGGAAATGATGAGACCCTGGGTGGATAGGTAGACTGGGTCAGACCACGATAAGCCTCGAATGCCAGACTTCAGAAATTTGGCTTCAGTGGGTGAACAATGCAGTAATTAAAAGGTTTCGTGAAAATGACAGACTTAACATTAAAGTCATTGTGTTGATTTGTTAGCTAAGATTTTAGTTAGATTTATATACATGCCTTCCTCACTGGTTGTGAAGTTCTTGAAGAAGGAGACCATGTTGGAATCAGTTTTGTACCCCCGGCAGAGTGTCTGACATCTAGTGTGATCAGGATTATGTGAGGAGAGTGGCATGTAGGAAGGATTGGAGTGGGCAAAGAGAAGCTGAAGACAGAGCAGTTCAGACCCCAGTGATATAGGGACTGAGCTAAGGTTGAGGCAACTGGAGGGACAGTTTCTTCATCCATTCAGGCTGCTATAACAATATGCCTTAGACCCAATAATTTACACACAACAGAAACTTAACTCTTCACAGTTGTAGAGACTGGGAGGTGTAAGATCAAGGTGCTGGCAGATTCTGTGTCTGGTAAGGGTTTGTTCCTCATAAAAGGGCTCCTTGCCGCATCCTCAAATGGTGGAAGGGAGGAACAAGCCCCTTGGGCCTCTTTTATAAGGGCAGTAATCCCATTCAGAATCATTTCCCAAAGGCCTCACTTCTTCATACCGCCACCTTGGGAATTAGGTCTCAAGCTATGAATTAGGACATAAACATTCAGACCATAGCAGAAAGAAAAGGAAGCATGGGCAGTGCTGAGATGGATTCCACAGGACTGTGCTAGAAGGAAAAGGAAGCATGGGCAGTGCTGCTGAGATGGATTCCGCGGGACTGTGTTTAGTTGTGCTCTTTCTTTTTCCACGGCAAAGCTTGCTGTTTAGGGAGTTAATTTCAGATTGGAATATGAGAAGAAAATTTATTTATGTGACTCTTTTCCTTTTTGGCATTTTCTTTGTTTACATGACTTTTTTTTTAAGAAAGTTAAATTTTAAATAATTTATGAAGCTAGAGTTTGGGGGATTTATATGTATAAAATTTCCTTCAAGCTTCTAGAGTATCGGAGTATTTGTGAATGATAAAAAGAAAGGTAGGGGAATGAGGAAGACCAGTTTATTACGAAGGCCAAAATTTATTGTATCTATTTCTGTGTGACCTTTGATAACAAAAATCAAGAACTTTTGTTTCCCTTTTAGGTGACAGGAGCCTGTTGCCTCTTTCTGGCTGGGAAAGTAGAAGAAACACCAGAAAAATGTAAAGATATCATCAAAACAGCTCGTAGTTTATTAAATGATGTACAATTTGGCCAGTTTGGAGATGACCCAAAGGTAAGAATGATAATAACTTCCTGCCTTCTGGTCTTGATTCCTTATGGTAGTATTGTACAGTTCCACATGTTGACAGTGCCTGTAGCCCTTGTGTCTGCCAGTCTCTTGAGTTCCTAAGAGGGCCTTCTGTAGAAGTTACTTGATGCTTTTGTAAGAAAGGAGGGAAGATCGTGTAGCCTACACTTACTCAGTGCTTCCTTATGTGCCCAGCAGTATTCTAAGTACTTTGGGGCAGTGGCACATTTCATGGATATGAGCAAAAATCCTCTTAATTGCCATTAGGACTCTGCTTCTTAAGTGCAGTGGTGATGGCAGGGTTACAACTCCAGCTAGCTTCTGGGTCAAACAAAAGTATGTATGCTGTATGTACACATACACATGCCTACATATGCCATGTGTCTTTTGCTTCTAAAGAATGTTGGAAGGTATCAACATTTGCAGCATTTTTATGCACCCAGAGCTTGATACTGGTCACACCAGCCATCCTATCTTTTCCATACAGCTCACGCCAGTGTCAGCAAGTGGTGCTCAAATAATTGTACATATTTTGTTGTGTTTTTAAAATACCACTTTTAGGGACCCATGGCAGTGTTCCTCCACTCCCATTCGCATCAAGTTCCCCTTGTTGCAACCTCAGTAACACCTGTTAATTATCCTTCATAACATTTATCACAGTTTGCAATTAAATAGATTTTCAAAAATACTTTAGGCCAAGCCGGGCAGATTGCTTGAGCCCAGGAATTCAAGACCAGCCTAGCCAACATAGCGAAACCCCATCTCTACTATATAAGAATAAACTGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTACCCTCCAGCCTGGGCGACGGAGCAAAACTCCATCTCAAAAAAAAATAAATAAACTAATATTACTTTAAAAAAAAAAAACCTTTATTATTTTTTGCTGGGCATGGTGGCACGCACCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCAGGACGAGAAAGCAAGACTCCACCTCAAGAAAAAAAAAAAATGCTTTTTTTTTTTTTAGAGCAGTTTTATGTTCACAGCAAAAATGAGTGGAAAGTACAGAGATTTCCCATATACCCCCCACCCAACACATGCACAGCTTCCCCCATTTTCAGCATCCCCCCGACCAAAGTGGTACATTTGCTATGACTGATGAGCCTGCATTGACACATCACCCAGAGTCCAAACTTTACATTAGGGTTCATTCTCAGTGTTGTACATTCTGTGGGTTTGGACATACGTATAGTAACATGTAGCCACCATTATAGTATCATGTAGTCTATTTTCATAGCCTTAAAAATTCTCTGTGCTCCACCTGTTTGTCTCCTTCTCCCCGCTAACCTCTGGCAACCACTGATATTTTTACTGTCTCTATAGTTTCACCATTTCCAGAATGTCATCGAATTGGAATCATATAGGATGTAGCTTTTTCAGATTGGTCTCTTTCACTTAGTGGTGTGCATTTAGATAGTAGTATCCATTAGATGATTTTTATCAAATTATCACACACATAACTCCCTCCCCTTCTCAGCTGTAAGATGCATGAAAGCAAAGACTATCTGTTTTGTCTAATGCCTCATTCAGTGGCAGGACAGAGTAGGCATTCAGCAAGTACTCGTGGAATAAATGTCAAACTAATGGTCTGAGGAAATTTCTAAATCACAGTTAAAGC
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Task1_train_20310
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This alteration in EML1 (EMAP like 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Band heterotopia of brain
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GTAAGCTCAGTCCTAAGGTTTCTTAATCATCACATACCTGTGATAGACTCATGTGGATATTTCATAGACATTGGTTATATACATCCACACTCTGCATTTTTTATGTGTTGTGGAAATAGCATTATATTGTCTTTATTCCTAACCTACATTCTGCGAGCTTTCTGGCAGGACTGATTCTCTTACAAAGAGAGTTGCTAGAATCCCTTTTCATTTAGCTGTCAACTCCAGTCTCCTGCCCCTCTTTTCAAGAATGTCAATCGTTTGGGTGCTTTTAGATTCTTTGGTTGTGGTAGCCACACAGCCCCTGATGAGCTTATATTTGGGTGAGGTTTAAGGAAGGGAAGAAGCTTCAGAAGAGAACAGCATGAGCGGTGGCACAGACAGGACAGGGTGTAGAGGGGGGCAAAGAGACACGCCTGGCCCCAGAGGAGAATCCCTGTGGGTGGCTGTGGCAGATGAGGTCCTGTGCGGTGAGAGCCTGGCAGGGCATTTAGACCTGCTGGATCCAGCAAGGAAGAGAGCAGGTGAAGAAGTTTACATGGAGGAAGGGCTCCGTAAACCTGGTTTGGGCCTTGGTGGGTTTGGCAGCAGTGTGTAAACTGACCCAGGAGAGCCATAAGACAGCCTGTGGTGATGGGGCCCCAGTGCACCTGGGGAAGTTGGCACCAGTGTGGGAGACATTGTAAGGGGAGGATCCATGGGACGCAGTGGCTGGCACACATAGGCAGGGATGATCGCGTTCATGACTCTCACTCAACGTCAGCCTTAATACGCAGTGTGAAGAGTGTGTCACGTGCATGCATTTAAGACCTGAAGCGCATACACACAATAACATGAAACTGGGGTGCCCTCTTGATTTTTAAGTAATACTGCATGTGGCATTGTTTGAAAATCCTTAAGAATAAGACTTATAAAACTAACTTGTACTATAATTATTTCCTAACTGTTCCTCGCCAATTTCCTCCCTGCGGATGCTTTTTCTGTTGAGTTGTGTACAGGTATCCCTGGTTCCAACTGCCCAGTTTAAATACCATTAAAACCAGGTCCTTTGATCTGCAGTGAAATTTCAGAATTCAGCGAGTTCTGAATCTGAACAGAATTCACCAGGAGCGGAGCTCACAAGACATTTTCTTTGCCCTTATCATATCCTGAGAACTCCAGTCAGAACACCCCAAGATGTTCTTTTTGAGGTCTAGGAGTTACCCCGTGTTGATACGTTGTTGATATTTACTTTTGTCCCTATGATTTATTGAAATATTAAAAGTTATTTTATTATAGAAATGTTCGTTCTGAAGAGTTTTGCATCCTGATTTCTCTCTCTAATGGGTCTTTTGTTCTTTTGTTTTCCATTTCTAGATTTTCTTTGAGCATTTTCCTTTCTGCATTGCATCCTAGCATGCACTTCTGCTGATTTTGTGTTCTTTACACTTGAAAGAATTGTTCAGTTAAAAGATACATAAAGATATATTTTTACATTGCAATATAACAAATCCATTTAAATATTGAAAAATATTTGTGAATTTGGATATTGAGATTGTGTATACATTGAACTCAAAAACTTTAAGTGGATTTCTTGTGTTAGTTGAATTTTGGGGGTGGTATTTTTTCCCCTCCTGATGATAAAAGAAAGTAAACAGTAAAATCTCATGGAAAATCATTGTTGGAATCAAGTTCCTTCCTGCCTTTTACAATTTCGTAGGTATCTCATGTACTTAAGTAAACAGAATATCAAAAGCAAACAAGATGCAAACTTTTGTTTCAAACTGTTTATTTTTATGTTACTTTTTTCCCTAGGATATCAATTAGAATGACAGAAGGGTAAAAGTTTCTCTTTTATACTGAAAGGCTAGAGAGGATAAAGCATTTGTTTTCAGGTACGCTGGGCACTGAGGTATCTTACTGAAATCTTTGTTCTTTTTGTAGAAGAAGGCTATGTAAAAATGTTTCTTCGTGGACGCCCTGTTACCATGTACATGCCCAAAGATCAAGTGGATTCTTACAGCTTGGAAGCAAAAGTAGAACTTCCAACCAAGAGACTCAAGCTGGAATGGGTGTATCCTTTATTCATTGATTAGGTCTCACATGAAGTTATCAGTCAATCAATGCTTGATGTTAACTGTAGAAATTCATAAAACTTAAGTCCTCTTAAGCTTTTAAAAAACAAAATGTTTTACTGTTACTTTTGAAAACTTAATGTAACAAAATTGACTATATGTTAGAGACCTACAGAGTTCTAACAAAGTAGGAGCTTCATAAGAGCGGCTTATTATCAGGAGAACCAACTTATCATTCCTGAACGAAATAGCTGTGGTTCTGGCTCAAATACATGTTCATTATTTTGCTGAAAAGAAAATATGAAGATGTTATATGATTGTATGAGTGATTTTTTTCTTTGTCAGGAGAAAATGAATCACTAGTTTCTGGTCCGAATTTTATTCTTTCCAAAAGAATGACAATAGTAGTTAGAAATATATAAAGAAGTGAACAGTGAAAATAATCAAGAATGGGTAGAATTTTAGATTCTAATGAGAACTGATTTTTTTTTAAGAGATAGTCTCTCCCTATGTTGCCCCAGCTGTTCTTGAGCTCCTGGACTCAAGCAATCTGCTCGTCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCAAAAGCCAATTATTTTTAACAGGAGCTATCATATACTTAGTCAACTCTTCAGGGACAGATGGAAAACTAGGCACTCTCTATATTTATAAGGAAACAACAGTGACAATGCAAGAAAATATTGTCCTTATGATTGAGGAAATGGGAGTATCCAAAATTGAAACTAAACCACATTGGCAAAAAAGTTTTTAAACCCAAAGAAAGAGGGGTACTCTGAAAGGAGGACTAGCATTCTCCCCTTAAACCAAGTATGGACTTGGCCAGCCTTAGGAGCCAAACTTCAAGTGTGACCTTGACTGAAGGGATGATAGAAAAATATGAATACCAAAGTACTGAATGAAGGGAGTCAAGTGAATGACGTAAATGAAATTGACATATCACGTAGATATCATCCTACTTTAAAAAAAAAAAAACTAGCTACAGGGATGCATCCCTGTAGTCCCAGCTGTTCAAGAGGCTTAGATGGAAGGATCCAGGAGTTCAAGTCCAGCCTGGGTAACTTGGCAAGTCCCTGTCTCAAAAATACATATATTCATATCAATCAAAAAGGCTCCCCAAAAATCTAGGCCACAAAAATCTGAATCAACCATATAACTAACGTTCTTGAAACAGAGGTGCTGGTAGCTTCATGGCATGAGGTTTGGAAAAGTGAGCTTCCAGGGGAAAAAACAACTGAAAGATAAGAAAATAGAAACTGTGAAAAAGGTGAATTAATTGTTGATTATTTTTCCATTTTCTTATTACTTTAGAGGAATCCTGCAGAGACCACCTTTCAGTCTATGCAGATTTTAAGGGAAAAAAAAAATTTTTTTTCACCTTCAAATATTTGAGTACCTGTTTAATGCCAAGCCTGGAACACAAATTATAAGATGTTGGTTTAAATTTAAGCTATTGTGACTTCATTTAGAATAATTACTATTTGAGATTATGGAATCATATTCCTTAGAAATTTTTTAAAATTACCACCTGTACCTAAATTTCTCCCCCAAAATACTTTTTTTTTTTCCAGATTCAAATGTCATAGGCATTTACCTGCACCTGTTTTGGAATCTATCTTGATACATGAAATTGAAGTGCTTCAGCTCGTCTTTAAGTCAGTAGTGGTTTATTAAACGGTTATATCACATCTGGAAAACATTATTCAAAACATTTATTCAGCCTACTTCCTGTTCATATTTTAGAAGATGTAAAGCAATGAAATTTGCTCTAAATAAATGGCATTTTTTTGGCCATTATTTGGCATCTTGCCGGGTTACTTTTTACATCCAAGTTGAAGTGATATTTTGTTCTCAAAATAAAATAATTTTCAAGGTTTGGAAATATAATGCAAAAATTTTAACAGGGATTCTTATCCCAAAGGATCTGAGGGGCCTGATTTTTTTTTTTTTACCTTTTATGTATGTTTGTGTGCATGTGTGTGTGTCATTTGTACCCTT
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GTAAGCTCAGTCCTAAGGTTTCTTAATCATCACATACCTGTGATAGACTCATGTGGATATTTCATAGACATTGGTTATATACATCCACACTCTGCATTTTTTATGTGTTGTGGAAATAGCATTATATTGTCTTTATTCCTAACCTACATTCTGCGAGCTTTCTGGCAGGACTGATTCTCTTACAAAGAGAGTTGCTAGAATCCCTTTTCATTTAGCTGTCAACTCCAGTCTCCTGCCCCTCTTTTCAAGAATGTCAATCGTTTGGGTGCTTTTAGATTCTTTGGTTGTGGTAGCCACACAGCCCCTGATGAGCTTATATTTGGGTGAGGTTTAAGGAAGGGAAGAAGCTTCAGAAGAGAACAGCATGAGCGGTGGCACAGACAGGACAGGGTGTAGAGGGGGGCAAAGAGACACGCCTGGCCCCAGAGGAGAATCCCTGTGGGTGGCTGTGGCAGATGAGGTCCTGTGCGGTGAGAGCCTGGCAGGGCATTTAGACCTGCTGGATCCAGCAAGGAAGAGAGCAGGTGAAGAAGTTTACATGGAGGAAGGGCTCCGTAAACCTGGTTTGGGCCTTGGTGGGTTTGGCAGCAGTGTGTAAACTGACCCAGGAGAGCCATAAGACAGCCTGTGGTGATGGGGCCCCAGTGCACCTGGGGAAGTTGGCACCAGTGTGGGAGACATTGTAAGGGGAGGATCCATGGGACGCAGTGGCTGGCACACATAGGCAGGGATGATCGCGTTCATGACTCTCACTCAACGTCAGCCTTAATACGCAGTGTGAAGAGTGTGTCACGTGCATGCATTTAAGACCTGAAGCGCATACACACAATAACATGAAACTGGGGTGCCCTCTTGATTTTTAAGTAATACTGCATGTGGCATTGTTTGAAAATCCTTAAGAATAAGACTTATAAAACTAACTTGTACTATAATTATTTCCTAACTGTTCCTCGCCAATTTCCTCCCTGCGGATGCTTTTTCTGTTGAGTTGTGTACAGGTATCCCTGGTTCCAACTGCCCAGTTTAAATACCATTAAAACCAGGTCCTTTGATCTGCAGTGAAATTTCAGAATTCAGCGAGTTCTGAATCTGAACAGAATTCACCAGGAGCGGAGCTCACAAGACATTTTCTTTGCCCTTATCATATCCTGAGAACTCCAGTCAGAACACCCCAAGATGTTCTTTTTGAGGTCTAGGAGTTACCCCGTGTTGATACGTTGTTGATATTTACTTTTGTCCCTATGATTTATTGAAATATTAAAAGTTATTTTATTATAGAAATGTTCGTTCTGAAGAGTTTTGCATCCTGATTTCTCTCTCTAATGGGTCTTTTGTTCTTTTGTTTTCCATTTCTAGATTTTCTTTGAGCATTTTCCTTTCTGCATTGCATCCTAGCATGCACTTCTGCTGATTTTGTGTTCTTTACACTTGAAAGAATTGTTCAGTTAAAAGATACATAAAGATATATTTTTACATTGCAATATAACAAATCCATTTAAATATTGAAAAATATTTGTGAATTTGGATATTGAGATTGTGTATACATTGAACTCAAAAACTTTAAGTGGATTTCTTGTGTTAGTTGAATTTTGGGGGTGGTATTTTTTCCCCTCCTGATGATAAAAGAAAGTAAACAGTAAAATCTCATGGAAAATCATTGTTGGAATCAAGTTCCTTCCTGCCTTTTACAATTTCGTAGGTATCTCATGTACTTAAGTAAACAGAATATCAAAAGCAAACAAGATGCAAACTTTTGTTTCAAACTGTTTATTTTTATGTTACTTTTTTCCCTAGGATATCAATTAGAATGACAGAAGGGTAAAAGTTTCTCTTTTATACTGAAAGGCTAGAGAGGATAAAGCATTTGTTTTCAGGTACGCTGGGCACTGAGGTATCTTACTGAAATCTTTGTTCTTTTTGTAGAAGAAGGCTATGTAAAAATGTTTCTTCGTGGACGCCCTGTTACCATGTACATGCCCAAAGATCAAGTGGATTCTTACAGCTTGGAAGCAAAAGTAGAACTTCCAACCAAGAGACTCAAGCTGGAACGGGTGTATCCTTTATTCATTGATTAGGTCTCACATGAAGTTATCAGTCAATCAATGCTTGATGTTAACTGTAGAAATTCATAAAACTTAAGTCCTCTTAAGCTTTTAAAAAACAAAATGTTTTACTGTTACTTTTGAAAACTTAATGTAACAAAATTGACTATATGTTAGAGACCTACAGAGTTCTAACAAAGTAGGAGCTTCATAAGAGCGGCTTATTATCAGGAGAACCAACTTATCATTCCTGAACGAAATAGCTGTGGTTCTGGCTCAAATACATGTTCATTATTTTGCTGAAAAGAAAATATGAAGATGTTATATGATTGTATGAGTGATTTTTTTCTTTGTCAGGAGAAAATGAATCACTAGTTTCTGGTCCGAATTTTATTCTTTCCAAAAGAATGACAATAGTAGTTAGAAATATATAAAGAAGTGAACAGTGAAAATAATCAAGAATGGGTAGAATTTTAGATTCTAATGAGAACTGATTTTTTTTTAAGAGATAGTCTCTCCCTATGTTGCCCCAGCTGTTCTTGAGCTCCTGGACTCAAGCAATCTGCTCGTCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCAAAAGCCAATTATTTTTAACAGGAGCTATCATATACTTAGTCAACTCTTCAGGGACAGATGGAAAACTAGGCACTCTCTATATTTATAAGGAAACAACAGTGACAATGCAAGAAAATATTGTCCTTATGATTGAGGAAATGGGAGTATCCAAAATTGAAACTAAACCACATTGGCAAAAAAGTTTTTAAACCCAAAGAAAGAGGGGTACTCTGAAAGGAGGACTAGCATTCTCCCCTTAAACCAAGTATGGACTTGGCCAGCCTTAGGAGCCAAACTTCAAGTGTGACCTTGACTGAAGGGATGATAGAAAAATATGAATACCAAAGTACTGAATGAAGGGAGTCAAGTGAATGACGTAAATGAAATTGACATATCACGTAGATATCATCCTACTTTAAAAAAAAAAAAACTAGCTACAGGGATGCATCCCTGTAGTCCCAGCTGTTCAAGAGGCTTAGATGGAAGGATCCAGGAGTTCAAGTCCAGCCTGGGTAACTTGGCAAGTCCCTGTCTCAAAAATACATATATTCATATCAATCAAAAAGGCTCCCCAAAAATCTAGGCCACAAAAATCTGAATCAACCATATAACTAACGTTCTTGAAACAGAGGTGCTGGTAGCTTCATGGCATGAGGTTTGGAAAAGTGAGCTTCCAGGGGAAAAAACAACTGAAAGATAAGAAAATAGAAACTGTGAAAAAGGTGAATTAATTGTTGATTATTTTTCCATTTTCTTATTACTTTAGAGGAATCCTGCAGAGACCACCTTTCAGTCTATGCAGATTTTAAGGGAAAAAAAAAATTTTTTTTCACCTTCAAATATTTGAGTACCTGTTTAATGCCAAGCCTGGAACACAAATTATAAGATGTTGGTTTAAATTTAAGCTATTGTGACTTCATTTAGAATAATTACTATTTGAGATTATGGAATCATATTCCTTAGAAATTTTTTAAAATTACCACCTGTACCTAAATTTCTCCCCCAAAATACTTTTTTTTTTTCCAGATTCAAATGTCATAGGCATTTACCTGCACCTGTTTTGGAATCTATCTTGATACATGAAATTGAAGTGCTTCAGCTCGTCTTTAAGTCAGTAGTGGTTTATTAAACGGTTATATCACATCTGGAAAACATTATTCAAAACATTTATTCAGCCTACTTCCTGTTCATATTTTAGAAGATGTAAAGCAATGAAATTTGCTCTAAATAAATGGCATTTTTTTGGCCATTATTTGGCATCTTGCCGGGTTACTTTTTACATCCAAGTTGAAGTGATATTTTGTTCTCAAAATAAAATAATTTTCAAGGTTTGGAAATATAATGCAAAAATTTTAACAGGGATTCTTATCCCAAAGGATCTGAGGGGCCTGATTTTTTTTTTTTTACCTTTTATGTATGTTTGTGTGCATGTGTGTGTGTCATTTGTACCCTT
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Task1_train_20311
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An alteration has been detected in EML1 (EMAP like 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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TCCAAAAGAATGACAATAGTAGTTAGAAATATATAAAGAAGTGAACAGTGAAAATAATCAAGAATGGGTAGAATTTTAGATTCTAATGAGAACTGATTTTTTTTTAAGAGATAGTCTCTCCCTATGTTGCCCCAGCTGTTCTTGAGCTCCTGGACTCAAGCAATCTGCTCGTCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCAAAAGCCAATTATTTTTAACAGGAGCTATCATATACTTAGTCAACTCTTCAGGGACAGATGGAAAACTAGGCACTCTCTATATTTATAAGGAAACAACAGTGACAATGCAAGAAAATATTGTCCTTATGATTGAGGAAATGGGAGTATCCAAAATTGAAACTAAACCACATTGGCAAAAAAGTTTTTAAACCCAAAGAAAGAGGGGTACTCTGAAAGGAGGACTAGCATTCTCCCCTTAAACCAAGTATGGACTTGGCCAGCCTTAGGAGCCAAACTTCAAGTGTGACCTTGACTGAAGGGATGATAGAAAAATATGAATACCAAAGTACTGAATGAAGGGAGTCAAGTGAATGACGTAAATGAAATTGACATATCACGTAGATATCATCCTACTTTAAAAAAAAAAAAACTAGCTACAGGGATGCATCCCTGTAGTCCCAGCTGTTCAAGAGGCTTAGATGGAAGGATCCAGGAGTTCAAGTCCAGCCTGGGTAACTTGGCAAGTCCCTGTCTCAAAAATACATATATTCATATCAATCAAAAAGGCTCCCCAAAAATCTAGGCCACAAAAATCTGAATCAACCATATAACTAACGTTCTTGAAACAGAGGTGCTGGTAGCTTCATGGCATGAGGTTTGGAAAAGTGAGCTTCCAGGGGAAAAAACAACTGAAAGATAAGAAAATAGAAACTGTGAAAAAGGTGAATTAATTGTTGATTATTTTTCCATTTTCTTATTACTTTAGAGGAATCCTGCAGAGACCACCTTTCAGTCTATGCAGATTTTAAGGGAAAAAAAAAATTTTTTTTCACCTTCAAATATTTGAGTACCTGTTTAATGCCAAGCCTGGAACACAAATTATAAGATGTTGGTTTAAATTTAAGCTATTGTGACTTCATTTAGAATAATTACTATTTGAGATTATGGAATCATATTCCTTAGAAATTTTTTAAAATTACCACCTGTACCTAAATTTCTCCCCCAAAATACTTTTTTTTTTTCCAGATTCAAATGTCATAGGCATTTACCTGCACCTGTTTTGGAATCTATCTTGATACATGAAATTGAAGTGCTTCAGCTCGTCTTTAAGTCAGTAGTGGTTTATTAAACGGTTATATCACATCTGGAAAACATTATTCAAAACATTTATTCAGCCTACTTCCTGTTCATATTTTAGAAGATGTAAAGCAATGAAATTTGCTCTAAATAAATGGCATTTTTTTGGCCATTATTTGGCATCTTGCCGGGTTACTTTTTACATCCAAGTTGAAGTGATATTTTGTTCTCAAAATAAAATAATTTTCAAGGTTTGGAAATATAATGCAAAAATTTTAACAGGGATTCTTATCCCAAAGGATCTGAGGGGCCTGATTTTTTTTTTTTTACCTTTTATGTATGTTTGTGTGCATGTGTGTGTGTCATTTGTACCCTTTGTAAGTACTTTTACCATGTTTAAAAAAGGAATTTTTTAGTAAAAATTTAGCTCGTAGATTACAGTAAAAAAATTAATAATTGACTCAATAGCTTTCTAAAAATAAAACCAAATCATTGTGAAAATATGTATTCACATTACATCAATGACTGTTTCAACTTTACTGCATGCCTTTTGGGGGTCACATGTATTTGTCATGGAATATTTGCAATTTAATGTTGTTTAAATTAGTGATGCTGATGGTAATAGTTATATGGTATTTTATTGCCTGTGCCTGTTGAATAAAGCTGATGTTTTGTCAGCTCTTAAAGGGAAAAAAAATTTTATCTTGACATCCACAAAGCTATGGGTACAGGGGTCGAGACTGCCGTAACAACCTGTACTTGCTTCCGACGGGAGAGACCGTCTACTTCATCGCATCCGTGGTGGTGTTATACAACGTGGAGGAGCAACTGCAGAGGCATTACGCTGGCCACAACGATGACGTGAAGTGGTAAGTCCTGAAACAGGTCATTCCTGCGACTCAGAAGGCGAAGGTAGGAGGATCGCTTGAGGCCAGGAGTTCCAGACCATCCTGGGCAACAGTGAAACCCTGTCTCTAAAATAAATAAATAAATAAATGTGATTCCTGTTGCACAGGTGGAAATAGCATTAGCAGAACACGGTCAGTATTGGGACATAACTAAAGAGAAGGAAGAGGGTCTGAGGAAATGAGGTCTTTGGGAGAGCTCTTCTGTGTGGTCTCCTTGTGGTCCGCTCACTACTGCGCTCCGTGAGACCCCTCTCATGTTTAATTTTCCAGCCTCACCAACGCATGAGCTTCACGGACCACATTGTCTCAACAAACAGCGCCACCTCTTTGGAGGCCTTCTTAACACATCATGTATTAAAGGCTTCTAATTTGGGTCTTTATTTTTTGATAAACATAAAAATGTGTTGCCTCATGTTTGTGGCTGAGTCGGCTCTTCCCATAATTCATTTATAGCTTTTGGTAGGCATATTACATATCTTGGAAGGATGGATGCGTGAAGAGATGGATTTATATATTTGTATTTGTCCTGGTTCCTTGGTCAATGATAAAAATCCTGTTCACGAAAGATGGTATCTTTCCTATTTATGTACTCAACATGACTTTTTAATAAAGATTGTAGACTAATGTAGTGGTTCTGAGATTGAAATGGTATTTTCCCAGCAGAGGATGCTTTTTCCTTCAGTTTGAAAATTCTTAAGAAGAAATAAGGGAATTAAGATGAAATGAATTAGGTACTAGTTGTCTAACGTCGTGGTGCTCAGAGAATTTGTCATGAGTCTGTAAGAAGTTAGGCATTATATATTTCTTATATTTAAATTTTTGACTAGATTATATTTGAGCAAGGGAAAAGTAAAACTTACCTGCAACATGTAGATGTTTTGTAAATATCCTTTTCTTAGCCTAGCAGTTCATCCTGATCGGATCACGATAGCAACAGGACAAGTTGCGGGCACATCGAAGGATGGAAAAGTGAGTTACGTTACCTTTTCATTGTTTCATAATGAACTGGTAACACAAAGTAATTTTTAGAAAACATTGTGCTGCTGAGTAAGGCTGCTTAGATATAATTATGGTATCTGAAAACTTCTGAACCCCTCACTAGAATTTTTTATTGTAAATTAGAAGACTTATTGTGTGGCAGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGCTGGATCTCTTGAGGTCAGAAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGTCACATGACCGTAGTCCCAGCTACTCTGGAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCATCCTGGGTGACAGAGAGAGACTAAGTCTCAAAAAAAAAAAAAAAAAATACTGACTGTGACCTTAAAAATCCCTGGAGCTCATCTTAATTTCATCAGATTTTTAAATAGCATTGTTCTGAACAAAGAATTCGCTAATTCTTAAAATGTTTATTTATATGATAAGTATTAAAAATATGAAGGTAAACATTTAATAAAGTTAAAATTATAATAATAATTTGAATGTACAACATTTTGCCAAATTTCAGCCACCCTCTGCCCTGTCCTGTGAATGTCGTTTAACAGTCGTGACTTTAACCCGTGAAGTTTGTGTCTGTGTGCAGTCACAAAAGCTACTAGGAGGTTTTTAGCACAGATTTTGCAAGCACTTCAGCAAGACTTTAATTTGCATTTTAAGGCGTTAGAGAGGGAGCTTGTAGCTTTTTTGATATCTACTTTTATATAGCTTGTTATTGCATAATATTTTATCTGAAACTAATTTAAGTACATACATTTTATCAACATGTTTTCATCCAGAAAAAA
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TCCAAAAGAATGACAATAGTAGTTAGAAATATATAAAGAAGTGAACAGTGAAAATAATCAAGAATGGGTAGAATTTTAGATTCTAATGAGAACTGATTTTTTTTTAAGAGATAGTCTCTCCCTATGTTGCCCCAGCTGTTCTTGAGCTCCTGGACTCAAGCAATCTGCTCGTCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCAAAAGCCAATTATTTTTAACAGGAGCTATCATATACTTAGTCAACTCTTCAGGGACAGATGGAAAACTAGGCACTCTCTATATTTATAAGGAAACAACAGTGACAATGCAAGAAAATATTGTCCTTATGATTGAGGAAATGGGAGTATCCAAAATTGAAACTAAACCACATTGGCAAAAAAGTTTTTAAACCCAAAGAAAGAGGGGTACTCTGAAAGGAGGACTAGCATTCTCCCCTTAAACCAAGTATGGACTTGGCCAGCCTTAGGAGCCAAACTTCAAGTGTGACCTTGACTGAAGGGATGATAGAAAAATATGAATACCAAAGTACTGAATGAAGGGAGTCAAGTGAATGACGTAAATGAAATTGACATATCACGTAGATATCATCCTACTTTAAAAAAAAAAAAACTAGCTACAGGGATGCATCCCTGTAGTCCCAGCTGTTCAAGAGGCTTAGATGGAAGGATCCAGGAGTTCAAGTCCAGCCTGGGTAACTTGGCAAGTCCCTGTCTCAAAAATACATATATTCATATCAATCAAAAAGGCTCCCCAAAAATCTAGGCCACAAAAATCTGAATCAACCATATAACTAACGTTCTTGAAACAGAGGTGCTGGTAGCTTCATGGCATGAGGTTTGGAAAAGTGAGCTTCCAGGGGAAAAAACAACTGAAAGATAAGAAAATAGAAACTGTGAAAAAGGTGAATTAATTGTTGATTATTTTTCCATTTTCTTATTACTTTAGAGGAATCCTGCAGAGACCACCTTTCAGTCTATGCAGATTTTAAGGGAAAAAAAAAATTTTTTTTCACCTTCAAATATTTGAGTACCTGTTTAATGCCAAGCCTGGAACACAAATTATAAGATGTTGGTTTAAATTTAAGCTATTGTGACTTCATTTAGAATAATTACTATTTGAGATTATGGAATCATATTCCTTAGAAATTTTTTAAAATTACCACCTGTACCTAAATTTCTCCCCCAAAATACTTTTTTTTTTTCCAGATTCAAATGTCATAGGCATTTACCTGCACCTGTTTTGGAATCTATCTTGATACATGAAATTGAAGTGCTTCAGCTCGTCTTTAAGTCAGTAGTGGTTTATTAAACGGTTATATCACATCTGGAAAACATTATTCAAAACATTTATTCAGCCTACTTCCTGTTCATATTTTAGAAGATGTAAAGCAATGAAATTTGCTCTAAATAAATGGCATTTTTTTGGCCATTATTTGGCATCTTGCCGGGTTACTTTTTACATCCAAGTTGAAGTGATATTTTGTTCTCAAAATAAAATAATTTTCAAGGTTTGGAAATATAATGCAAAAATTTTAACAGGGATTCTTATCCCAAAGGATCTGAGGGGCCTGATTTTTTTTTTTTTACCTTTTATGTATGTTTGTGTGCATGTGTGTGTGTCATTTGTACCCTTTGTAAGTACTTTTACCATGTTTAAAAAAGGAATTTTTTAGTAAAAATTTAGCTCGTAGATTACAGTAAAAAAATTAATAATTGACTCAATAGCTTTCTAAAAATAAAACCAAATCATTGTGAAAATATGTATTCACATTACATCAATGACTGTTTCAACTTTACTGCATGCCTTTTGGGGGTCACATGTATTTGTCATGGAATATTTGCAATTTAATGTTGTTTAAATTAGTGATGCTGATGGTAATAGTTATATGGTATTTTATTGCCTGTGCCTGTTGAATAAAGCTGATGTTTTGTCAGCTCTTAAAGGGAAAAAAAATTTTATCTTGACATCCACAAAGCTATGGGTACAGGGGTCGAGACTGCCGTAACAACCTGTACTTGCTTCCGGCGGGAGAGACCGTCTACTTCATCGCATCCGTGGTGGTGTTATACAACGTGGAGGAGCAACTGCAGAGGCATTACGCTGGCCACAACGATGACGTGAAGTGGTAAGTCCTGAAACAGGTCATTCCTGCGACTCAGAAGGCGAAGGTAGGAGGATCGCTTGAGGCCAGGAGTTCCAGACCATCCTGGGCAACAGTGAAACCCTGTCTCTAAAATAAATAAATAAATAAATGTGATTCCTGTTGCACAGGTGGAAATAGCATTAGCAGAACACGGTCAGTATTGGGACATAACTAAAGAGAAGGAAGAGGGTCTGAGGAAATGAGGTCTTTGGGAGAGCTCTTCTGTGTGGTCTCCTTGTGGTCCGCTCACTACTGCGCTCCGTGAGACCCCTCTCATGTTTAATTTTCCAGCCTCACCAACGCATGAGCTTCACGGACCACATTGTCTCAACAAACAGCGCCACCTCTTTGGAGGCCTTCTTAACACATCATGTATTAAAGGCTTCTAATTTGGGTCTTTATTTTTTGATAAACATAAAAATGTGTTGCCTCATGTTTGTGGCTGAGTCGGCTCTTCCCATAATTCATTTATAGCTTTTGGTAGGCATATTACATATCTTGGAAGGATGGATGCGTGAAGAGATGGATTTATATATTTGTATTTGTCCTGGTTCCTTGGTCAATGATAAAAATCCTGTTCACGAAAGATGGTATCTTTCCTATTTATGTACTCAACATGACTTTTTAATAAAGATTGTAGACTAATGTAGTGGTTCTGAGATTGAAATGGTATTTTCCCAGCAGAGGATGCTTTTTCCTTCAGTTTGAAAATTCTTAAGAAGAAATAAGGGAATTAAGATGAAATGAATTAGGTACTAGTTGTCTAACGTCGTGGTGCTCAGAGAATTTGTCATGAGTCTGTAAGAAGTTAGGCATTATATATTTCTTATATTTAAATTTTTGACTAGATTATATTTGAGCAAGGGAAAAGTAAAACTTACCTGCAACATGTAGATGTTTTGTAAATATCCTTTTCTTAGCCTAGCAGTTCATCCTGATCGGATCACGATAGCAACAGGACAAGTTGCGGGCACATCGAAGGATGGAAAAGTGAGTTACGTTACCTTTTCATTGTTTCATAATGAACTGGTAACACAAAGTAATTTTTAGAAAACATTGTGCTGCTGAGTAAGGCTGCTTAGATATAATTATGGTATCTGAAAACTTCTGAACCCCTCACTAGAATTTTTTATTGTAAATTAGAAGACTTATTGTGTGGCAGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGCAGGCTGGATCTCTTGAGGTCAGAAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGTCACATGACCGTAGTCCCAGCTACTCTGGAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCATCCTGGGTGACAGAGAGAGACTAAGTCTCAAAAAAAAAAAAAAAAAATACTGACTGTGACCTTAAAAATCCCTGGAGCTCATCTTAATTTCATCAGATTTTTAAATAGCATTGTTCTGAACAAAGAATTCGCTAATTCTTAAAATGTTTATTTATATGATAAGTATTAAAAATATGAAGGTAAACATTTAATAAAGTTAAAATTATAATAATAATTTGAATGTACAACATTTTGCCAAATTTCAGCCACCCTCTGCCCTGTCCTGTGAATGTCGTTTAACAGTCGTGACTTTAACCCGTGAAGTTTGTGTCTGTGTGCAGTCACAAAAGCTACTAGGAGGTTTTTAGCACAGATTTTGCAAGCACTTCAGCAAGACTTTAATTTGCATTTTAAGGCGTTAGAGAGGGAGCTTGTAGCTTTTTTGATATCTACTTTTATATAGCTTGTTATTGCATAATATTTTATCTGAAACTAATTTAAGTACATACATTTTATCAACATGTTTTCATCCAGAAAAAA
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Task1_train_20312
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Given this variant in gene YY1 (YY1 transcription factor) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Gabriele de Vries syndrome
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TAATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCC
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TAATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCAGTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCC
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Task1_train_20313
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A variant affecting Chromosome 14, within the gene YY1 (YY1 transcription factor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Gabriele de Vries syndrome
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AATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCT
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AATGACTGTGCACTAGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACCGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCT
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Task1_train_20314
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Mutation context: Chromosome 14, Gene YY1 (YY1 transcription factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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AGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATG
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AGCAAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGTGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATG
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Task1_train_20315
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This mutation occurs in YY1 (YY1 transcription factor) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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AAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATGGAA
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AAGTCCTTCCTGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCCCACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATGGAA
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Task1_train_20316
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This variant affects the gene YY1 (YY1 transcription factor) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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TGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATGGAACTGAGTTAAG
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TGTTCTTTGTCAGCGTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCAAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATGGAACTGAGTTAAG
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Task1_train_20317
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A mutation found in YY1 (YY1 transcription factor) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Gabriele de Vries syndrome
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GTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGAGACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATGGAACTGAGTTAAGCAGAAGACCCCAGC
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GTTCTTGATGTGGCGATTTGAAATGTAAACGTATCTCCATTAGGGCCGAAATAACAAGCATTTGAAAACAGTTAGGCTGGAAGTGCCTATGCCATCCCTTTAGCTTCTCTGAAGTTTTCTTTATAATGGACACATAATACTTGTACATATTTATGGGGTACCGTGTGATGTTTCAATGCATGTATACATTGTGTACCAGTTAAATTTTTTAAATTTCCATTTTCTAAATGGAAATTCAACCTAGGGGTAAAGGCGGAAAAACTGGGGCTTCCCTCTCCCTTCTGCCTGTGAGCTGTCTAGTGACTTGTGCTGTCCTTCTGTCATGCTGTCTTATCATTTCCCCATTCACTCCATTACTGGGCAACAACTGCAGAAGAAATTGTTGAGGACATGCTTCTCGAGCGCCACACATCCATCTGCCTTTCCCGCCCTGCACTGGTATCAATTTGCCTGCTTCTTCCTTTTCCTAGTGTCTCACAAAATAAATTTCTTCTGTAGTTGCCATTCCTTGGAGACCCTCTTGCTTCTTTCTCTGTCAAGAAGGGGAAAGAGGCAAAGAGAGAAGAGGGAACAGTAGGCGATGGAGAATGACAGTCCATTGTTGCAGCACAGAATATGGGGCCACCAAAGGTAGTGGTGGACTACCGTCATTTTAACTCCATTTGCTTAGCAGTGCTTCTGTTACTTCATTTTGGGGGACATAGTCGGGTGAGGTGGCTGTGGTAGAGCTGGAAGCCAGGGTGTTGGGTTCTATTCCCAGTTTGGCTACTACTAGTAGTGTGACCTTGGGCAAGTCTACTTAAAGACATCTCTAAGCCTCAGTTTCCTCATCTGTAAAACTAGGGTTTGCATTGAATGATGACTTTTTCAGCTGTCTGCTTTTTGTCTTAAATGATATTAATGTTCTACCGTAATACTAAGTAAAATTAAAATGGGGGGTTGGGGAGGTGGTTTTGTTTTAATATGTCAGTAAAGGCTGTTAAATGGTTGAATCCTTTCTAACAGTTTGCAATGTGAACTTCTAAGCTGCTTTCTCTGTTTTAAGGGCTGCACAAAGATGTTCAGGGATAACTCGGCCATGAGAAAACATCTGCACACCCACGGTCCCAGAGTCCACGTCTGTGCAGAATGTGGCAAAGCTTTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTCAGGTAGAGCCAGTTCCCTCTCTTCCCCACACTGCCTTGCCTGTCTGAACACTGCAAGTGTAGGTGGTGTGGTGATGAGGCAGGAGGCGCCAGCCCAGAGACTCAGGGTCTTATTACTCCTTGGTGAGAAACAAAACTTCTCCTGGGGAGTCGCTTAGAAGGGTTGCCGGGGCTCTGGACATCCTTGTCTATACTCTGTGGTACTGGGTACGCAATGTATTGGTGTTGATGGAGTACACTTTATGGCAGGAGGAGAACAGGATTGAAGAGCATACCTAAAACTCAATTTCTACTTCATTCATTACAGGATTGAAGTAATTTATTTTTGGTAGTTAATAGTATAATTACTAACTGATAAAGTTTCTAGAGTGTAAGTATAGGTAATACTTTAGCCCATAAATAAGTGAAAGAACTAGCAGTGCAGCTAGTAAATCTAACGTGGTTCTTTTTTGACAACTGACACCAGAACCCTTAATCATTTGTATTTTACTGTTGGAAATGTTTACAGCAGCACTAGGACTCTAGCCTGCATTTAGGAAGACTTGCCATTTTGCCAAGTGTTTTAAACAGTTCGTGAGGGCTCTCCTTGGGTTTTCGGGGTTGTCCAACCTGCCTGCTGATTCTAGACTATATCCACAAAGTTCACCCAGGGCAGGAATGAAAAGTGTTTGGTAAAATAAATAGGCTGTTCTCTAGCAAAGCAGTGAGCTCCTGACTCCCAGGGTCTGGTCAGAGTTGCTGAGTGGGTTGATCTCTGGTCTTTCCTTGACAGTGCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCATACCGGATACAGGCCCTATGTGTGCCCCTTCGATGGTTGTAATAAGAAGTTTGCTCAGTCAACTAACCTGAAATCTCACATCTTAACACATGCTAAGGCCAAAAACAACCAGTGAAAAGAAGAGAGAAGACCCTTCTCGACCACGGGAAGCATCTTCCAGAAGTGTGATTGGGAATAAATATGCCTCTCCTTTGTATATTATTTCTAGGAAGAATTTTAAAAATGAATCCTACACACCTAAGGGACATGTTTTGATAAAGTAGTAAAAATTAAAAAAAAAAAACTTTACTAAGATGACATTGCTAAGATGCTCTATCTTGCTCTGTAATCTCGTTTCAAAAACACAGTGTTTTTGTAAAGTGTGGTCCCAACAGGAGGACAATTCATGAACTTCGCATCAAAAGACAATTCTTTATACAACAGTGCTAAAAATGGGACTTCTTTTCACATTCTTATAAATATGAAGCTCACCTGTTGCTTACAATTTTTTTAATTTTGTATTTTCCAAGTGTGCATATTGTACACTTTTTTGGGGATATGCTTAGTAATGCTACGTGTGATTTTTCTGGAGGTTGATAACTTTGCTTGCAGTAGATTTTCTTTAAAAGAATGGGCAGTTACATGCATACTTCAAAAGTATTTTCCTGTAAAAAAAAAAAAGTTATATAGGTTTTGTTTGCTATCTTAATTTTGGTTGTATTCTTTGATGTTAACACATTTTGTATAATTGTATCGTATAGCTGTATTGAATCATGTAGTATCAAATATTAGATGTGATTTAATAGTGTTAATCAATTTAAACCCATTTTAGTCACTTTTTTTTTCCAAAAAAATACTGCCAGATGCTGATGTTCAGTGTAATTTCTTTGCCTGTTCAGTTACAGAAAGTGGTGCTCAGTTGTAGAATGTATTGTACCTTTTAACACCTGATGTGTACATCCCATGTAACAGAAAGGGCAACAATAAAATAGCAATCCTAAAGCAAGAATATGGCAGAACAAGATCTGTAAGCACAGTCTTATTTTCTTTTGTTGTCCAGAATACTTATAATTCTTGAGCCTCCCAGAAATTGGAAGCTAAATAAAGCAACTCAAGTTTCCTTTATTTTGCACTCAATTACAGTGATTATTGATGAAAGCGATGCATGGATATTTTAATACTTCCTACATGTCCTGACTTCTGAAAGAGAGTAGGTAACAGGCATCCCGAGTTCAGGAACTACCTCAGAACACCCCAGGCCAGGTTGGTCATAGGCTGTGATTTTAGCCCCCGGCAAGTGTGAGTGAAGCATCTGTACCACCGCGCAGGCTGAGCGCCTGCGCAGGGTAAGGTGCCACCTGGCAGTGGGGCACACAGAGGGAAGACCAGGCCTGTCCATCAGCCGGCTGCCTTCAGAGGCAGCTCCAGCAGGACCTTGGCTTGTCTGACAGGAAATGCTTGTGGTCGTTGGTTATTTGGTTTGAGAGCCCTTGTTCCTCCATCTAGTGGAGTCCTTATTAAATGCTAGCAATGTGGCAATTGAGTGCCAGTAGCTTAATTTCATGTTTCTAAATGGACACTGGGTGCAAATCGGCAAGGTGATTAGATTATTAGAAAATTCTGCTCAATGAGTACCTCTCACATTGTAACCTCTTAAATGTACGATTATAATGTTGGATCTTAGGTCAAATAACAGACTTGAGAATACTTTATAAACTGCCATGATACAGCAAAATCTCATTTATTCAAAGTGCAAACATACTGTGTGTCTTTCTGTTTTGTGTATGCTTGACTGCAAGATAAATGACAAACTAGCTAATATCCGAGATTTATTTACAAATGGCCAGGGACCCCATCAGGTGAAACACATAGCCCATTGTCTTAGAGCTTCTCCATCGGTCCTGTACAGGAGGATTGGTGACCTACTAACAGTGACCCTGTGGCTCTGTGGAATTTTGAAGTGCCTTTTGTGAATCATGAATGAAACATTTAACTTGAGACCCTTTAAAAAATTCATCCAGAATCTGTTACCCCTTGGGTAGTTTGATGGAACTGAGTTAAGCAGAAGACCCCAGC
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Task1_train_20318
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A mutation on Chromosome 14 affecting WARS1 (tryptophanyl-tRNA synthetase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
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ATGCTGTGGCTGGGTGGACAATGACAGCAGCAGCTGTCACTGACTCCATTTGTCACCCCTCATTGCACTTGCGTCACAGGTGCAGTAGAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACCGTAGTTCCCTCATTTGTAAAATGGTCCCTCTGTATGTGTGTGGAAAGCACCAAGAGTCAGGACAGACTCGCTGTATCAGAGTCACCCTATGGCCTTGGACAAGTCATGTTCTCCTCTCCTAAGCCTCAGTTTCCCTACTTGCAAAATAAGGATGGGCCGGTAGAATGAGCCCAGGGCTCCCTTGCAGCTCGGCCTCTGCCCTGGGCCTCATGTGAATGGGGCCCGACCTGGCTCCCAGCCTGTGCTCCCCGTCACTACACAGCACCACTAAGCACCCCACGGCCAGCCCCTCCTCTGAAAAGCGAGGACAACCTCTGCTTGCATTCTCCATCAGCTGCTGGAAATGAGAAATGTGGTGTGAGAGGGAGCCCGCACCAGGATGCTGCTAAGGGCTCTCCCAGCACAAGCCCATTCCTGGGAGCTGTGGCACAACACCATGGGGTTCCTGGGACTGTGCGCTTTCATCCCCAAATTTTGACTCCAGCAGACTCAAGGTCATCCACAGAAGGGTGAGGGGAGGGGTCTCTGCTCCCTCCTCAGACCTCCCAGACAGAGCACAATGACAAGAGCAGGAGCCAAGGAAGTTTATTTACTCTACTGGGTGACAGGAGGGCAGAGTGCTCCAGAGGAGACCCAGATACATCAACCAAGGACTTCCCTGAGATTTGGCTTTGCTCTTCCAGGCCTGCACATGCTGCGTGATGAAATGAGGCCTGCCTAGACATCTGTGAGGGCCTCGAGGGCTGCTGCCTCGACTTTCTCCCTAGCTAAGTCCACCCGTCCAGGGACACAGCCAGGGCACTGCTCTGTGCTGACTTCCACTGCAGCCAAGGGTCAAAATGAAGCATCTGCGGAGGCCAGGACTCCTTGGCATCGGACACAGTCAGGGGAAAAGCCACCCTGACTCTGCAGGACAGAGGGTCTAGGGTCATTTGGCAGGAGAACACTGGTGTGCCAAGGGAAGCGAGCATGATTTCTGGAGTGGACTACATGCATGGTCTGGAGTTCAGTAAACTGGAAAGTTTCACCCCCAAGTCTTAATTTAATCAAAATTGCTGAACTCTGTTCAATCTTCATTGTTAAAAGCAGCTTTAAAGCTGGGTGATTTCTTAGTCAAATGTATAACGAAGCTTTTACTTATCAATTTCTTTTTGGGAGGGGGCATGGGCTGAAATACATCTTGTGCTCAATAAACCTCCCCACATCAATATTTCAAAGCACTTTCTAGGTTACAATAATGACATTTCAATTCCATATACGCATACATAGAATATATATTTTTAAACAGAGTGGGTCTTAAGAGTATACTTGGAACCCTCGGAGTCCTCCATGGACAAGAACAGGGTGGCCCATGGACTTCCAGCCAAAGGCTCCACTGTGGGGCTGCTTTGGGGAGAGACTCACAGCTGGACTTCTCTATCCGACCATGCAATGTTAGCCAGCACCAATTACCCACAATGCTTTGCCCATAAGAGATAGAAATAATGGAACTCACAGGAAGAAACAGTATTGATAACATACACAGGCTTACAGAGGCCAGGCCCAGTAATTACCATGAGACAGAAGCCTACAGGTGGCGGTGCTTTGACTGGGCTGGGATTATTGATACATTACTGATACATCACTTCTTTTATAAGCATATGTAAAACGAGTGCTACTGAAAGTCGAAGGACAGCTTCCGGGGAGTCATGAACTCTTTCACTATCTCATCCGTGACCTCCTTGCGCCGGGCCTGGTGCTCTGCGATCAAGGGCTGCAGAACCTCTATGAGTGCCTTCTTGAGCTCACCGGTGAGCATGGCTCCGCTGGTGTAATCCTGCCCGGAGGGAGACAGCCACGTGAGAGATGGCTCCACATGTCCTGAGTGGCTCCTTCCTGCCTCGGGCACCAGCTCAGCCCACACCACCCATGCAGAGCCTGGCACGTGGGTGGCACTCAGAAGTGAGATCTGTTGTTACCACAACAATAACCTATACCTTCAGCTACACTTTTCCTAAAACGGCTAGAAACCTGGCTCTGACGATAGCCATGACTTGGCCTCTCACAGTGAAAGGGCCAATGGGGAGGGCAGTCCCCACCCCTACCGATGCTAGGGGCCATTCCCCCAGGCACTAAACAACAACAATTCCTGGCAGCCTTATGGCTTCTGTAAAATCTTGCTAATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGTTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACTCCCCCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAATCTTGCTAATTTTTTCTTTTTCTGATTGTACTGCATGCTCATTAAGCAAATTTAATAAAGTACCCAAACCACAAAGCAGCAGCAAAGTAAAGAAAAATCACCTACAAATTGCCCACCTGAAAAATGCCCAGAGGTGGGTCTCCCGCTAACATTTGGTAGATTTTCTTCACATTTCTTTCCCTGTGCATTTCATTTAAACATAGTTAACTCCTCCCTGAGTTTTCATTTGGTATCCTTTTTTCACTATCATAGGCATATTTTCCTGTGTCACTAAAACTTTTTTTTTTTTAAAAGAAATGAGGGTCTTGGCTGGACGCGGTGGTCACAGCTGTAATCCAAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCGGGAGGTCGAGACCATCTTGAATAAGACGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAATGAGGGTCTTGCTATGTCGCCCAGGCTGGATTTGAACTCCTGGGCTCAAGGGATCCTCCTGTCTCAGCTTCCCAAGTAGCAGGGGCTACAGATGTGTGCCACCATGCCCTGCATATGAACACTTAAAATAGTTCATGCCCGCATAATAATCCACCCTGTAACAATTCTAATTTAACGTTTCCTCTGTTGTACTGAGTCTGTGTTGAACTTTTTGCTATTATCATTTTTAACATCTTTGTGTGGAAAGCTTTCTCTTACTCAGGATTATTTCCTTGGAAAAAATCTAAGAATGAGAAAACCTGAGGAGAAGCTCTGAACATTTTTGGGCTCTTTGTACCCAGTACCAAACTGCTTCCTGAGGCTGTGCTGATAAACACTCTGCTCACTTGAGTGTGCCTTGAAGCATCTGCTTCATAATCACTGAAAATAGTCAATGGCAACACAAAAGCCCCTACTAATTCTATACTCAACTGTCTTAGCTTTGATCACGTTAACTTACATTTCTCTGATGACTAATAAAGCAAGACTGTTTTGGGTGGCTCCTAAATGAATAGTGATTTGTATCTGCTCTTTCGAGATTTGTTCATGAGGCTTCTGAGCCCAGGCCTAAAAACCATGAGGGCGAGTCTACTCAGTTTTCACCTTGTTTCAGTTGAGCACCTCCGACCAAGCCTTCATGCCTGGCTGTTGGAGCCTT
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ATGCTGTGGCTGGGTGGACAATGACAGCAGCAGCTGTCACTGACTCCATTTGTCACCCCTCATTGCACTTGCGTCACAGGTGCAGTAGAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACCGTAGTTCCCTCATTTGTAAAATGGTCCCTCTGTATGTGTGTGGAAAGCACCAAGAGTCAGGACAGACTCGCTGTATCAGAGTCACCCTATGGCCTTGGACAAGTCATGTTCTCCTCTCCTAAGCCTCAGTTTCCCTACTTGCAAAATAAGGATGGGCCGGTAGAATGAGCCCAGGGCTCCCTTGCAGCTCGGCCTCTGCCCTGGGCCTCATGTGAATGGGGCCCGACCTGGCTCCCAGCCTGTGCTCCCCGTCACTACACAGCACCACTAAGCACCCCACGGCCAGCCCCTCCTCTGAAAAGCGAGGACAACCTCTGCTTGCATTCTCCATCAGCTGCTGGAAATGAGAAATGTGGTGTGAGAGGGAGCCCGCACCAGGATGCTGCTAAGGGCTCTCCCAGCACAAGCCCATTCCTGGGAGCTGTGGCACAACACCATGGGGTTCCTGGGACTGTGCGCTTTCATCCCCAAATTTTGACTCCAGCAGACTCAAGGTCATCCACAGAAGGGTGAGGGGAGGGGTCTCTGCTCCCTCCTCAGACCTCCCAGACAGAGCACAATGACAAGAGCAGGAGCCAAGGAAGTTTATTTACTCTACTGGGTGACAGGAGGGCAGAGTGCTCCAGAGGAGACCCAGATACATCAACCAAGGACTTCCCTGAGATTTGGCTTTGCTCTTCCAGGCCTGCACATGCTGCGTGATGAAATGAGGCCTGCCTAGACATCTGTGAGGGCCTCGAGGGCTGCTGCCTCGACTTTCTCCCTAGCTAAGTCCACCCGTCCAGGGACACAGCCAGGGCACTGCTCTGTGCTGACTTCCACTGCAGCCAAGGGTCAAAATGAAGCATCTGCGGAGGCCAGGACTCCTTGGCATCGGACACAGTCAGGGGAAAAGCCACCCTGACTCTGCAGGACAGAGGGTCTAGGGTCATTTGGCAGGAGAACACTGGTGTGCCAAGGGAAGCGAGCATGATTTCTGGAGTGGACTACATGCATGGTCTGGAGTTCAGTAAACTGGAAAGTTTCACCCCCAAGTCTTAATTTAATCAAAATTGCTGAACTCTGTTCAATCTTCATTGTTAAAAGCAGCTTTAAAGCTGGGTGATTTCTTAGTCAAATGTATAACGAAGCTTTTACTTATCAATTTCTTTTTGGGAGGGGGCATGGGCTGAAATACATCTTGTGCTCAATAAACCTCCCCACATCAATATTTCAAAGCACTTTCTAGGTTACAATAATGACATTTCAATTCCATATACGCATACATAGAATATATATTTTTAAACAGAGTGGGTCTTAAGAGTATACTTGGAACCCTCGGAGTCCTCCATGGACAAGAACAGGGTGGCCCATGGACTTCCAGCCAAAGGCTCCACTGTGGGGCTGCTTTGGGGAGAGACTCACAGCTGGACTTCTCTATCCGACCATGCAATGTTAGCCAGCACCAATTACCCACAATGCTTTGCCCATAAGAGATAGAAATAATGGAACTCACAGGAAGAAACAGTATTGATAACATACACAGGCTTACAGAGGCCAGGCCCAGTAATTACCATGAGACAGAAGCCTACAGGTGGCGGTGCTTTGACTGGGCTGGGATTATTGATACATTACTGATACATCACTTCTTTTATAAGCATATGTAAAACGAGTGCTACTGAAAGTCGAAGGACAGCTTCCGGGGAGTCATGAACTCTTTCACTATCTCATCCGTGACCTCCTTGCGCCAGGCCTGGTGCTCTGCGATCAAGGGCTGCAGAACCTCTATGAGTGCCTTCTTGAGCTCACCGGTGAGCATGGCTCCGCTGGTGTAATCCTGCCCGGAGGGAGACAGCCACGTGAGAGATGGCTCCACATGTCCTGAGTGGCTCCTTCCTGCCTCGGGCACCAGCTCAGCCCACACCACCCATGCAGAGCCTGGCACGTGGGTGGCACTCAGAAGTGAGATCTGTTGTTACCACAACAATAACCTATACCTTCAGCTACACTTTTCCTAAAACGGCTAGAAACCTGGCTCTGACGATAGCCATGACTTGGCCTCTCACAGTGAAAGGGCCAATGGGGAGGGCAGTCCCCACCCCTACCGATGCTAGGGGCCATTCCCCCAGGCACTAAACAACAACAATTCCTGGCAGCCTTATGGCTTCTGTAAAATCTTGCTAATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGTTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACTCCCCCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAATCTTGCTAATTTTTTCTTTTTCTGATTGTACTGCATGCTCATTAAGCAAATTTAATAAAGTACCCAAACCACAAAGCAGCAGCAAAGTAAAGAAAAATCACCTACAAATTGCCCACCTGAAAAATGCCCAGAGGTGGGTCTCCCGCTAACATTTGGTAGATTTTCTTCACATTTCTTTCCCTGTGCATTTCATTTAAACATAGTTAACTCCTCCCTGAGTTTTCATTTGGTATCCTTTTTTCACTATCATAGGCATATTTTCCTGTGTCACTAAAACTTTTTTTTTTTTAAAAGAAATGAGGGTCTTGGCTGGACGCGGTGGTCACAGCTGTAATCCAAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCGGGAGGTCGAGACCATCTTGAATAAGACGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAATGAGGGTCTTGCTATGTCGCCCAGGCTGGATTTGAACTCCTGGGCTCAAGGGATCCTCCTGTCTCAGCTTCCCAAGTAGCAGGGGCTACAGATGTGTGCCACCATGCCCTGCATATGAACACTTAAAATAGTTCATGCCCGCATAATAATCCACCCTGTAACAATTCTAATTTAACGTTTCCTCTGTTGTACTGAGTCTGTGTTGAACTTTTTGCTATTATCATTTTTAACATCTTTGTGTGGAAAGCTTTCTCTTACTCAGGATTATTTCCTTGGAAAAAATCTAAGAATGAGAAAACCTGAGGAGAAGCTCTGAACATTTTTGGGCTCTTTGTACCCAGTACCAAACTGCTTCCTGAGGCTGTGCTGATAAACACTCTGCTCACTTGAGTGTGCCTTGAAGCATCTGCTTCATAATCACTGAAAATAGTCAATGGCAACACAAAAGCCCCTACTAATTCTATACTCAACTGTCTTAGCTTTGATCACGTTAACTTACATTTCTCTGATGACTAATAAAGCAAGACTGTTTTGGGTGGCTCCTAAATGAATAGTGATTTGTATCTGCTCTTTCGAGATTTGTTCATGAGGCTTCTGAGCCCAGGCCTAAAAACCATGAGGGCGAGTCTACTCAGTTTTCACCTTGTTTCAGTTGAGCACCTCCGACCAAGCCTTCATGCCTGGCTGTTGGAGCCTT
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Task1_train_20319
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Here is a mutation in WARS1 (tryptophanyl-tRNA synthetase 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
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GAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACCGTAGTTCCCTCATTTGTAAAATGGTCCCTCTGTATGTGTGTGGAAAGCACCAAGAGTCAGGACAGACTCGCTGTATCAGAGTCACCCTATGGCCTTGGACAAGTCATGTTCTCCTCTCCTAAGCCTCAGTTTCCCTACTTGCAAAATAAGGATGGGCCGGTAGAATGAGCCCAGGGCTCCCTTGCAGCTCGGCCTCTGCCCTGGGCCTCATGTGAATGGGGCCCGACCTGGCTCCCAGCCTGTGCTCCCCGTCACTACACAGCACCACTAAGCACCCCACGGCCAGCCCCTCCTCTGAAAAGCGAGGACAACCTCTGCTTGCATTCTCCATCAGCTGCTGGAAATGAGAAATGTGGTGTGAGAGGGAGCCCGCACCAGGATGCTGCTAAGGGCTCTCCCAGCACAAGCCCATTCCTGGGAGCTGTGGCACAACACCATGGGGTTCCTGGGACTGTGCGCTTTCATCCCCAAATTTTGACTCCAGCAGACTCAAGGTCATCCACAGAAGGGTGAGGGGAGGGGTCTCTGCTCCCTCCTCAGACCTCCCAGACAGAGCACAATGACAAGAGCAGGAGCCAAGGAAGTTTATTTACTCTACTGGGTGACAGGAGGGCAGAGTGCTCCAGAGGAGACCCAGATACATCAACCAAGGACTTCCCTGAGATTTGGCTTTGCTCTTCCAGGCCTGCACATGCTGCGTGATGAAATGAGGCCTGCCTAGACATCTGTGAGGGCCTCGAGGGCTGCTGCCTCGACTTTCTCCCTAGCTAAGTCCACCCGTCCAGGGACACAGCCAGGGCACTGCTCTGTGCTGACTTCCACTGCAGCCAAGGGTCAAAATGAAGCATCTGCGGAGGCCAGGACTCCTTGGCATCGGACACAGTCAGGGGAAAAGCCACCCTGACTCTGCAGGACAGAGGGTCTAGGGTCATTTGGCAGGAGAACACTGGTGTGCCAAGGGAAGCGAGCATGATTTCTGGAGTGGACTACATGCATGGTCTGGAGTTCAGTAAACTGGAAAGTTTCACCCCCAAGTCTTAATTTAATCAAAATTGCTGAACTCTGTTCAATCTTCATTGTTAAAAGCAGCTTTAAAGCTGGGTGATTTCTTAGTCAAATGTATAACGAAGCTTTTACTTATCAATTTCTTTTTGGGAGGGGGCATGGGCTGAAATACATCTTGTGCTCAATAAACCTCCCCACATCAATATTTCAAAGCACTTTCTAGGTTACAATAATGACATTTCAATTCCATATACGCATACATAGAATATATATTTTTAAACAGAGTGGGTCTTAAGAGTATACTTGGAACCCTCGGAGTCCTCCATGGACAAGAACAGGGTGGCCCATGGACTTCCAGCCAAAGGCTCCACTGTGGGGCTGCTTTGGGGAGAGACTCACAGCTGGACTTCTCTATCCGACCATGCAATGTTAGCCAGCACCAATTACCCACAATGCTTTGCCCATAAGAGATAGAAATAATGGAACTCACAGGAAGAAACAGTATTGATAACATACACAGGCTTACAGAGGCCAGGCCCAGTAATTACCATGAGACAGAAGCCTACAGGTGGCGGTGCTTTGACTGGGCTGGGATTATTGATACATTACTGATACATCACTTCTTTTATAAGCATATGTAAAACGAGTGCTACTGAAAGTCGAAGGACAGCTTCCGGGGAGTCATGAACTCTTTCACTATCTCATCCGTGACCTCCTTGCGCCGGGCCTGGTGCTCTGCGATCAAGGGCTGCAGAACCTCTATGAGTGCCTTCTTGAGCTCACCGGTGAGCATGGCTCCGCTGGTGTAATCCTGCCCGGAGGGAGACAGCCACGTGAGAGATGGCTCCACATGTCCTGAGTGGCTCCTTCCTGCCTCGGGCACCAGCTCAGCCCACACCACCCATGCAGAGCCTGGCACGTGGGTGGCACTCAGAAGTGAGATCTGTTGTTACCACAACAATAACCTATACCTTCAGCTACACTTTTCCTAAAACGGCTAGAAACCTGGCTCTGACGATAGCCATGACTTGGCCTCTCACAGTGAAAGGGCCAATGGGGAGGGCAGTCCCCACCCCTACCGATGCTAGGGGCCATTCCCCCAGGCACTAAACAACAACAATTCCTGGCAGCCTTATGGCTTCTGTAAAATCTTGCTAATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGTTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACTCCCCCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAATCTTGCTAATTTTTTCTTTTTCTGATTGTACTGCATGCTCATTAAGCAAATTTAATAAAGTACCCAAACCACAAAGCAGCAGCAAAGTAAAGAAAAATCACCTACAAATTGCCCACCTGAAAAATGCCCAGAGGTGGGTCTCCCGCTAACATTTGGTAGATTTTCTTCACATTTCTTTCCCTGTGCATTTCATTTAAACATAGTTAACTCCTCCCTGAGTTTTCATTTGGTATCCTTTTTTCACTATCATAGGCATATTTTCCTGTGTCACTAAAACTTTTTTTTTTTTAAAAGAAATGAGGGTCTTGGCTGGACGCGGTGGTCACAGCTGTAATCCAAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCGGGAGGTCGAGACCATCTTGAATAAGACGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAATGAGGGTCTTGCTATGTCGCCCAGGCTGGATTTGAACTCCTGGGCTCAAGGGATCCTCCTGTCTCAGCTTCCCAAGTAGCAGGGGCTACAGATGTGTGCCACCATGCCCTGCATATGAACACTTAAAATAGTTCATGCCCGCATAATAATCCACCCTGTAACAATTCTAATTTAACGTTTCCTCTGTTGTACTGAGTCTGTGTTGAACTTTTTGCTATTATCATTTTTAACATCTTTGTGTGGAAAGCTTTCTCTTACTCAGGATTATTTCCTTGGAAAAAATCTAAGAATGAGAAAACCTGAGGAGAAGCTCTGAACATTTTTGGGCTCTTTGTACCCAGTACCAAACTGCTTCCTGAGGCTGTGCTGATAAACACTCTGCTCACTTGAGTGTGCCTTGAAGCATCTGCTTCATAATCACTGAAAATAGTCAATGGCAACACAAAAGCCCCTACTAATTCTATACTCAACTGTCTTAGCTTTGATCACGTTAACTTACATTTCTCTGATGACTAATAAAGCAAGACTGTTTTGGGTGGCTCCTAAATGAATAGTGATTTGTATCTGCTCTTTCGAGATTTGTTCATGAGGCTTCTGAGCCCAGGCCTAAAAACCATGAGGGCGAGTCTACTCAGTTTTCACCTTGTTTCAGTTGAGCACCTCCGACCAAGCCTTCATGCCTGGCTGTTGGAGCCTTCCAGGCCCCATGGGCAGGAGTGGGTGGCAGAAGGCGGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAGCTTG
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GAGCGACGAGGAGTCATATTAGTTGCCCAAGGCAACAGGCTAGTGAGCTATGTGGCCTCTGTGGGTGGCTCACCCCCACTGGCCATAGCCAGCCAGGTGAGCAGGGGAGGGCAGGGGTGGGGCCCAGGCCAGCAGGAGTCGAGACCGGGAGAGGAAGCCTACTTGAGGTCATGGTGCACCCGGGTACCTGAGTGGGACTCGAGCCCAGGCCTCCAGCCTCCAGGGTGGGAACCGTAGTTCCCTCATTTGTAAAATGGTCCCTCTGTATGTGTGTGGAAAGCACCAAGAGTCAGGACAGACTCGCTGTATCAGAGTCACCCTATGGCCTTGGACAAGTCATGTTCTCCTCTCCTAAGCCTCAGTTTCCCTACTTGCAAAATAAGGATGGGCCGGTAGAATGAGCCCAGGGCTCCCTTGCAGCTCGGCCTCTGCCCTGGGCCTCATGTGAATGGGGCCCGACCTGGCTCCCAGCCTGTGCTCCCCGTCACTACACAGCACCACTAAGCACCCCACGGCCAGCCCCTCCTCTGAAAAGCGAGGACAACCTCTGCTTGCATTCTCCATCAGCTGCTGGAAATGAGAAATGTGGTGTGAGAGGGAGCCCGCACCAGGATGCTGCTAAGGGCTCTCCCAGCACAAGCCCATTCCTGGGAGCTGTGGCACAACACCATGGGGTTCCTGGGACTGTGCGCTTTCATCCCCAAATTTTGACTCCAGCAGACTCAAGGTCATCCACAGAAGGGTGAGGGGAGGGGTCTCTGCTCCCTCCTCAGACCTCCCAGACAGAGCACAATGACAAGAGCAGGAGCCAAGGAAGTTTATTTACTCTACTGGGTGACAGGAGGGCAGAGTGCTCCAGAGGAGACCCAGATACATCAACCAAGGACTTCCCTGAGATTTGGCTTTGCTCTTCCAGGCCTGCACATGCTGCGTGATGAAATGAGGCCTGCCTAGACATCTGTGAGGGCCTCGAGGGCTGCTGCCTCGACTTTCTCCCTAGCTAAGTCCACCCGTCCAGGGACACAGCCAGGGCACTGCTCTGTGCTGACTTCCACTGCAGCCAAGGGTCAAAATGAAGCATCTGCGGAGGCCAGGACTCCTTGGCATCGGACACAGTCAGGGGAAAAGCCACCCTGACTCTGCAGGACAGAGGGTCTAGGGTCATTTGGCAGGAGAACACTGGTGTGCCAAGGGAAGCGAGCATGATTTCTGGAGTGGACTACATGCATGGTCTGGAGTTCAGTAAACTGGAAAGTTTCACCCCCAAGTCTTAATTTAATCAAAATTGCTGAACTCTGTTCAATCTTCATTGTTAAAAGCAGCTTTAAAGCTGGGTGATTTCTTAGTCAAATGTATAACGAAGCTTTTACTTATCAATTTCTTTTTGGGAGGGGGCATGGGCTGAAATACATCTTGTGCTCAATAAACCTCCCCACATCAATATTTCAAAGCACTTTCTAGGTTACAATAATGACATTTCAATTCCATATACGCATACATAGAATATATATTTTTAAACAGAGTGGGTCTTAAGAGTATACTTGGAACCCTCGGAGTCCTCCATGGACAAGAACAGGGTGGCCCATGGACTTCCAGCCAAAGGCTCCACTGTGGGGCTGCTTTGGGGAGAGACTCACAGCTGGACTTCTCTATCCGACCATGCAATGTTAGCCAGCACCAATTACCCACAATGCTTTGCCCATAAGAGATAGAAATAATGGAACTCACAGGAAGAAACAGTATTGATAACATACACAGGCTTACAGAGGCCAGGCCCAGTAATTACCATGAGACAGAAGCCTACAGGTGGCGGTGCTTTGACTGGGCTGGGATTATTGATACATTACTGATACATCACTTCTTTTATAAGCATATGTAAAACGAGTGCTACTGAAAGTCGAAGGACAGCTTCCGGGGAGTCATGAACTCTTTCACTATCTCATCCGTGACCTCCTTGCGCCGGGCCTGGTGCTCTGCGATCAAGGGCTGCAGAACCTCTATGAGTGCCTTCTTGAGCTCACCGGTGAGCATGGCTCCGCTGGTGTAATTCTGCCCGGAGGGAGACAGCCACGTGAGAGATGGCTCCACATGTCCTGAGTGGCTCCTTCCTGCCTCGGGCACCAGCTCAGCCCACACCACCCATGCAGAGCCTGGCACGTGGGTGGCACTCAGAAGTGAGATCTGTTGTTACCACAACAATAACCTATACCTTCAGCTACACTTTTCCTAAAACGGCTAGAAACCTGGCTCTGACGATAGCCATGACTTGGCCTCTCACAGTGAAAGGGCCAATGGGGAGGGCAGTCCCCACCCCTACCGATGCTAGGGGCCATTCCCCCAGGCACTAAACAACAACAATTCCTGGCAGCCTTATGGCTTCTGTAAAATCTTGCTAATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGTTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACTCCCCCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAATCTTGCTAATTTTTTCTTTTTCTGATTGTACTGCATGCTCATTAAGCAAATTTAATAAAGTACCCAAACCACAAAGCAGCAGCAAAGTAAAGAAAAATCACCTACAAATTGCCCACCTGAAAAATGCCCAGAGGTGGGTCTCCCGCTAACATTTGGTAGATTTTCTTCACATTTCTTTCCCTGTGCATTTCATTTAAACATAGTTAACTCCTCCCTGAGTTTTCATTTGGTATCCTTTTTTCACTATCATAGGCATATTTTCCTGTGTCACTAAAACTTTTTTTTTTTTAAAAGAAATGAGGGTCTTGGCTGGACGCGGTGGTCACAGCTGTAATCCAAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCGGGAGGTCGAGACCATCTTGAATAAGACGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAATGAGGGTCTTGCTATGTCGCCCAGGCTGGATTTGAACTCCTGGGCTCAAGGGATCCTCCTGTCTCAGCTTCCCAAGTAGCAGGGGCTACAGATGTGTGCCACCATGCCCTGCATATGAACACTTAAAATAGTTCATGCCCGCATAATAATCCACCCTGTAACAATTCTAATTTAACGTTTCCTCTGTTGTACTGAGTCTGTGTTGAACTTTTTGCTATTATCATTTTTAACATCTTTGTGTGGAAAGCTTTCTCTTACTCAGGATTATTTCCTTGGAAAAAATCTAAGAATGAGAAAACCTGAGGAGAAGCTCTGAACATTTTTGGGCTCTTTGTACCCAGTACCAAACTGCTTCCTGAGGCTGTGCTGATAAACACTCTGCTCACTTGAGTGTGCCTTGAAGCATCTGCTTCATAATCACTGAAAATAGTCAATGGCAACACAAAAGCCCCTACTAATTCTATACTCAACTGTCTTAGCTTTGATCACGTTAACTTACATTTCTCTGATGACTAATAAAGCAAGACTGTTTTGGGTGGCTCCTAAATGAATAGTGATTTGTATCTGCTCTTTCGAGATTTGTTCATGAGGCTTCTGAGCCCAGGCCTAAAAACCATGAGGGCGAGTCTACTCAGTTTTCACCTTGTTTCAGTTGAGCACCTCCGACCAAGCCTTCATGCCTGGCTGTTGGAGCCTTCCAGGCCCCATGGGCAGGAGTGGGTGGCAGAAGGCGGCTGTGGGCCCTTGGGGTTCCCTGCTCACCTTCCTGATCTGCTCGAGCTTG
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Task1_train_20320
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A variant on Chromosome 14 in gene WARS1 (tryptophanyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
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AGCACTGTGCTACTATTTTGATTTTTTTAATTTGAGAGATGGGGCCTCACTGTGCCACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGCAGGCCCAGTGACCGTCTGTAGGCCTCTGTTTTTCCTGACCTCATGCTAACTGCTCACCTCGAGGGCTCTACTGGTCCCTAAGTGAATGATAAATGTCCCAGATCCATAAACAAGTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTGAGCTGGAGTCTCACTCTGTTGCCCAGGCTGGAGAACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGTCTTCCAGGGTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCAAGCCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGAGTTTCACCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGAATTATAGGTGTGAGCTATCGCACCTGGCCATAAACAACTTTTTCCAAACAACTTCTCAGAAGCAAAATAAAACAGTGGACTTTTCCAATGGCGCTTCCCTCCCCACTCTGCACCCTGTGCTCCGGAAGTTTTGGCCAGAAGTGAAAGGGAAAGAAAAGTCTTCAATTATACCAGCTTCCAACTGAGTGGGGAGAGTTGGTGGAGGGCATGTCTTAGGAAGTTTTGATATGAAAGGCTTCCCCATTGTCAACCAGAACCTGCTTGGGACTTTCCAGAACGGTCAGGGGCAGTGACTCAGAGGGCATGTGACATGCCTCAAATACAGTTCCCAGCATTCCCACTGCAATCTTCTAGCCTGCAAACACACACTTGATTCCAAAGAAAATGTCAACTGCTTTGTGTAACAGTGAGGCAATTATATATACACTGGCTGTTGAGGAACCAGGCAACAGAACTGGGGCCATGCAAAATAAGGAAGCTCAAACTAACTTCTCCTTTTAGTTTCTCTAGTGATTTGTCAAATGTTTGCTGAATGCCTGCTGCATGCATCCCTCCTGGGGCCAGCAGGACTGTCCCGTGGATGGACGTTTCTCCGTTCTATGTCTCTCAGTGAGAACGCTCTCTGGGAGAAGACCAGCTCATAACCCCTGCTTGGTAATGGCTGCTCAGGGCCAGGAGAGCAGTGCTGCTGATTCCTGGTGGTGGAAACTTGGTCAAGTGGCTGGGCTTCTCTAAGCCTCATCATCTCATCTTTAAAGGGAATAGCACCACCACCTCCCAGTGAGAATGAAACATGAGAAAACATAAATAAGGCACCGGGTCCAGCCGCTGGAACACAGCTGATGATGAGAAATATACACAAATCTTTTCCATTATTTAATAACATCCACACTAATTATAACTTTAAGGAAATTGCCATGACTTTGCCTGCAGAACAGTGCTGATAAGAAAAGCAGAAAAGGAAAAAAAGAAAAAAAATTCAAAATTTTACCTAAATGAAAGGACACAAAACAAATTCACCTGATTCATGTGGGAAGGACAGGCTGCCTTGAGTTCTGCAGGGAGCAAAGTTGGCAATCCTGGAGTTCAGCATTGCTACGGTGGCTGGGTGGCTGAGGCCCAAAGCACTGCGCAGTGGTGTGTGTGTGCGTGTGCCCCCCAGGGCATGTTTCTGATCCCGCTGGCTGCCCTCTGCCTGGGCCACTGCTCACCTTGGTTTTGATCTGCTTGGCCGTGTCGGTGAGGAAGATGGAGGAGTTGGGGTCGCTGGCACTCATTTTGGTCTGGGCGCCCTGCAGGGCTGGGAAGAAGGTGGAGTGCAGCAGGGCTGGTTTAGGATAGCCGATCCTGGGGGCGACGTCCCTTGTCATTCTAAAGTAAGGATCCTGTGGGGAGAGTAAGGACCCTGATGAGGGCGGCCAGAAAACATGCCAGCTTTCAGCCATGAGCAGTCCCTGTGAGCATCTTCCCAGAAGGCTCTCATGCTTCCAACCAAAGAAATTCACTCCCTCCTCCCCTTCATCTTTTCCTTTTTTTTTTTTAAATTTTACTTCCAGTTCTGGGATACATGTACAGAACACGCAGGTTTGTTACATAGGTATACATGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCACTCCCCAACTTTCTTTCCTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGATGCGCTCTCGCTGCAACCTCTGCCTCTGGGGTTCAAGCGAGGCGAGTAGCTGGGATTACAGGCGCCTGCCACCACATGTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAGAGTGCTGGTATTACAGGCGTGAGCCACCCTGCCTGGCTGCCCATCATATCTTTCAATACCTCTCCCCGCTGAAGAGTAAGAGGAACCTGCTGTCAATGCCCCAGACTTAGAGAGCCTTGCTTTTCTGCCTGCTGACCTGGTCAATGGCACATGGGATAAGGCACTGGATATCCGTCCTGTCTCGGAAGATCTGTGGGAATGAGTTGCTGAAGGAGGGAGCAGCCTGGATGGCAGGAAAACTGATCTTCCCTGAAAATGAGAAAAAGTATTTTTACACGTGAGATGAGTTCCTGTTCTGCTTAGTTAATAAAGGAATGAACAAAAACAGGTTTTCTCCCATTATAAAACAATCATTAAAATAAATCTAAAAAATACAGAAAAGTAGAAAGAACAAGCTGTACAGTTGCAATGTGTCTGATTTCATCCATTTTCTTTATATATTTTACTCTATGCATTTTTGTTGTGATTACACTATATTTGGTCTTTCCTTGGCTTTTTCTTTTCCTTTTTTTTTTCTCAGAAGGAGTCTCGCTTTGTTGCCAGGCTGGAGTGTGGTGGCTCGATCTCAGCTCACCGCTACCTCTGCCTCCTGGGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGTGCGTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCATCATGTTGGCCAGCATGGTCTCAATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCCGGCCTTCCTTGCCTTTTTCATTGTAATGACTATCCATGTTGTTACTAAGTATATTCTATCCTGTCAATGTATCATATCATTTAACCATTCTCTAGCCACCTTCCACCTTTAATTATCAGAAGTTATGATGGCTTCCCTCTTCCCTCTTCCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCGGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTCATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGGATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCAGCCAGCCTCGGCCTCCTGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTTAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCATGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTAAGG
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AGCACTGTGCTACTATTTTGATTTTTTTAATTTGAGAGATGGGGCCTCACTGTGCCACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGCAGGCCCAGTGACCGTCTGTAGGCCTCTGTTTTTCCTGACCTCATGCTAACTGCTCACCTCGAGGGCTCTACTGGTCCCTAAGTGAATGATAAATGTCCCAGATCCATAAACAAGTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTGAGCTGGAGTCTCACTCTGTTGCCCAGGCTGGAGAACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGTCTTCCAGGGTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCAAGCCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGAGTTTCACCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGAATTATAGGTGTGAGCTATCGCACCTGGCCATAAACAACTTTTTCCAAACAACTTCTCAGAAGCAAAATAAAACAGTGGACTTTTCCAATGGCGCTTCCCTCCCCACTCTGCACCCTGTGCTCCGGAAGTTTTGGCCAGAAGTGAAAGGGAAAGAAAAGTCTTCAATTATACCAGCTTCCAACTGAGTGGGGAGAGTTGGTGGAGGGCATGTCTTAGGAAGTTTTGATATGAAAGGCTTCCCCATTGTCAACCAGAACCTGCTTGGGACTTTCCAGAACGGTCAGGGGCAGTGACTCAGAGGGCATGTGACATGCCTCAAATACAGTTCCCAGCATTCCCACTGCAATCTTCTAGCCTGCAAACACACACTTGATTCCAAAGAAAATGTCAACTGCTTTGTGTAACAGTGAGGCAATTATATATACACTGGCTGTTGAGGAACCAGGCAACAGAACTGGGGCCATGCAAAATAAGGAAGCTCAAACTAACTTCTCCTTTTAGTTTCTCTAGTGATTTGTCAAATGTTTGCTGAATGCCTGCTGCATGCATCCCTCCTGGGGCCAGCAGGACTGTCCCGTGGATGGACGTTTCTCCGTTCTATGTCTCTCAGTGAGAACGCTCTCTGGGAGAAGACCAGCTCATAACCCCTGCTTGGTAATGGCTGCTCAGGGCCAGGAGAGCAGTGCTGCTGATTCCTGGTGGTGGAAACTTGGTCAAGTGGCTGGGCTTCTCTAAGCCTCATCATCTCATCTTTAAAGGGAATAGCACCACCACCTCCCAGTGAGAATGAAACATGAGAAAACATAAATAAGGCACCGGGTCCAGCCGCTGGAACACAGCTGATGATGAGAAATATACACAAATCTTTTCCATTATTTAATAACATCCACACTAATTATAACTTTAAGGAAATTGCCATGACTTTGCCTGCAGAACAGTGCTGATAAGAAAAGCAGAAAAGGAAAAAAAGAAAAAAAATTCAAAATTTTACCTAAATGAAAGGACACAAAACAAATTCACCTGATTCATGTGGGAAGGACAGGCTGCCTTGAGTTCTGCAGGGAGCAAAGTTGGCAATCCTGGAGTTCAGCATTGCTACGGTGGCTGGGTGGCTGAGGCCCAAAGCACTGCGCAGTGGTGTGTGTGTGCGTGTGCCCCCCAGGGCATGTTTCTGATCCCGCTGGCTGCCCTCTGCCTGGGCCACTGCTCACCTTGGTTTTGATCTGCTTGGCCGTGTCGGTGAGGAAGATGGAGGAGTTGGGGTCGCTGGCACTCATTTTGGTCTGGGCGCCCTGCAGGGCTGGGAAGAAGGTGGAGTGCAGCAGGGTTGGTTTAGGATAGCCGATCCTGGGGGCGACGTCCCTTGTCATTCTAAAGTAAGGATCCTGTGGGGAGAGTAAGGACCCTGATGAGGGCGGCCAGAAAACATGCCAGCTTTCAGCCATGAGCAGTCCCTGTGAGCATCTTCCCAGAAGGCTCTCATGCTTCCAACCAAAGAAATTCACTCCCTCCTCCCCTTCATCTTTTCCTTTTTTTTTTTTAAATTTTACTTCCAGTTCTGGGATACATGTACAGAACACGCAGGTTTGTTACATAGGTATACATGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCACTCCCCAACTTTCTTTCCTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGATGCGCTCTCGCTGCAACCTCTGCCTCTGGGGTTCAAGCGAGGCGAGTAGCTGGGATTACAGGCGCCTGCCACCACATGTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAGAGTGCTGGTATTACAGGCGTGAGCCACCCTGCCTGGCTGCCCATCATATCTTTCAATACCTCTCCCCGCTGAAGAGTAAGAGGAACCTGCTGTCAATGCCCCAGACTTAGAGAGCCTTGCTTTTCTGCCTGCTGACCTGGTCAATGGCACATGGGATAAGGCACTGGATATCCGTCCTGTCTCGGAAGATCTGTGGGAATGAGTTGCTGAAGGAGGGAGCAGCCTGGATGGCAGGAAAACTGATCTTCCCTGAAAATGAGAAAAAGTATTTTTACACGTGAGATGAGTTCCTGTTCTGCTTAGTTAATAAAGGAATGAACAAAAACAGGTTTTCTCCCATTATAAAACAATCATTAAAATAAATCTAAAAAATACAGAAAAGTAGAAAGAACAAGCTGTACAGTTGCAATGTGTCTGATTTCATCCATTTTCTTTATATATTTTACTCTATGCATTTTTGTTGTGATTACACTATATTTGGTCTTTCCTTGGCTTTTTCTTTTCCTTTTTTTTTTCTCAGAAGGAGTCTCGCTTTGTTGCCAGGCTGGAGTGTGGTGGCTCGATCTCAGCTCACCGCTACCTCTGCCTCCTGGGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGTGCGTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCATCATGTTGGCCAGCATGGTCTCAATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCCGGCCTTCCTTGCCTTTTTCATTGTAATGACTATCCATGTTGTTACTAAGTATATTCTATCCTGTCAATGTATCATATCATTTAACCATTCTCTAGCCACCTTCCACCTTTAATTATCAGAAGTTATGATGGCTTCCCTCTTCCCTCTTCCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCGGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTCATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGGATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCAGCCAGCCTCGGCCTCCTGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTTAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCATGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTAAGG
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Task1_train_20321
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A variant found in Chromosome 14 affects WARS1 (tryptophanyl-tRNA synthetase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Neuronopathy, distal hereditary motor, type 9
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ACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGCAGGCCCAGTGACCGTCTGTAGGCCTCTGTTTTTCCTGACCTCATGCTAACTGCTCACCTCGAGGGCTCTACTGGTCCCTAAGTGAATGATAAATGTCCCAGATCCATAAACAAGTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTGAGCTGGAGTCTCACTCTGTTGCCCAGGCTGGAGAACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGTCTTCCAGGGTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCAAGCCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGAGTTTCACCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGAATTATAGGTGTGAGCTATCGCACCTGGCCATAAACAACTTTTTCCAAACAACTTCTCAGAAGCAAAATAAAACAGTGGACTTTTCCAATGGCGCTTCCCTCCCCACTCTGCACCCTGTGCTCCGGAAGTTTTGGCCAGAAGTGAAAGGGAAAGAAAAGTCTTCAATTATACCAGCTTCCAACTGAGTGGGGAGAGTTGGTGGAGGGCATGTCTTAGGAAGTTTTGATATGAAAGGCTTCCCCATTGTCAACCAGAACCTGCTTGGGACTTTCCAGAACGGTCAGGGGCAGTGACTCAGAGGGCATGTGACATGCCTCAAATACAGTTCCCAGCATTCCCACTGCAATCTTCTAGCCTGCAAACACACACTTGATTCCAAAGAAAATGTCAACTGCTTTGTGTAACAGTGAGGCAATTATATATACACTGGCTGTTGAGGAACCAGGCAACAGAACTGGGGCCATGCAAAATAAGGAAGCTCAAACTAACTTCTCCTTTTAGTTTCTCTAGTGATTTGTCAAATGTTTGCTGAATGCCTGCTGCATGCATCCCTCCTGGGGCCAGCAGGACTGTCCCGTGGATGGACGTTTCTCCGTTCTATGTCTCTCAGTGAGAACGCTCTCTGGGAGAAGACCAGCTCATAACCCCTGCTTGGTAATGGCTGCTCAGGGCCAGGAGAGCAGTGCTGCTGATTCCTGGTGGTGGAAACTTGGTCAAGTGGCTGGGCTTCTCTAAGCCTCATCATCTCATCTTTAAAGGGAATAGCACCACCACCTCCCAGTGAGAATGAAACATGAGAAAACATAAATAAGGCACCGGGTCCAGCCGCTGGAACACAGCTGATGATGAGAAATATACACAAATCTTTTCCATTATTTAATAACATCCACACTAATTATAACTTTAAGGAAATTGCCATGACTTTGCCTGCAGAACAGTGCTGATAAGAAAAGCAGAAAAGGAAAAAAAGAAAAAAAATTCAAAATTTTACCTAAATGAAAGGACACAAAACAAATTCACCTGATTCATGTGGGAAGGACAGGCTGCCTTGAGTTCTGCAGGGAGCAAAGTTGGCAATCCTGGAGTTCAGCATTGCTACGGTGGCTGGGTGGCTGAGGCCCAAAGCACTGCGCAGTGGTGTGTGTGTGCGTGTGCCCCCCAGGGCATGTTTCTGATCCCGCTGGCTGCCCTCTGCCTGGGCCACTGCTCACCTTGGTTTTGATCTGCTTGGCCGTGTCGGTGAGGAAGATGGAGGAGTTGGGGTCGCTGGCACTCATTTTGGTCTGGGCGCCCTGCAGGGCTGGGAAGAAGGTGGAGTGCAGCAGGGCTGGTTTAGGATAGCCGATCCTGGGGGCGACGTCCCTTGTCATTCTAAAGTAAGGATCCTGTGGGGAGAGTAAGGACCCTGATGAGGGCGGCCAGAAAACATGCCAGCTTTCAGCCATGAGCAGTCCCTGTGAGCATCTTCCCAGAAGGCTCTCATGCTTCCAACCAAAGAAATTCACTCCCTCCTCCCCTTCATCTTTTCCTTTTTTTTTTTTAAATTTTACTTCCAGTTCTGGGATACATGTACAGAACACGCAGGTTTGTTACATAGGTATACATGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCACTCCCCAACTTTCTTTCCTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGATGCGCTCTCGCTGCAACCTCTGCCTCTGGGGTTCAAGCGAGGCGAGTAGCTGGGATTACAGGCGCCTGCCACCACATGTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAGAGTGCTGGTATTACAGGCGTGAGCCACCCTGCCTGGCTGCCCATCATATCTTTCAATACCTCTCCCCGCTGAAGAGTAAGAGGAACCTGCTGTCAATGCCCCAGACTTAGAGAGCCTTGCTTTTCTGCCTGCTGACCTGGTCAATGGCACATGGGATAAGGCACTGGATATCCGTCCTGTCTCGGAAGATCTGTGGGAATGAGTTGCTGAAGGAGGGAGCAGCCTGGATGGCAGGAAAACTGATCTTCCCTGAAAATGAGAAAAAGTATTTTTACACGTGAGATGAGTTCCTGTTCTGCTTAGTTAATAAAGGAATGAACAAAAACAGGTTTTCTCCCATTATAAAACAATCATTAAAATAAATCTAAAAAATACAGAAAAGTAGAAAGAACAAGCTGTACAGTTGCAATGTGTCTGATTTCATCCATTTTCTTTATATATTTTACTCTATGCATTTTTGTTGTGATTACACTATATTTGGTCTTTCCTTGGCTTTTTCTTTTCCTTTTTTTTTTCTCAGAAGGAGTCTCGCTTTGTTGCCAGGCTGGAGTGTGGTGGCTCGATCTCAGCTCACCGCTACCTCTGCCTCCTGGGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGTGCGTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCATCATGTTGGCCAGCATGGTCTCAATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCCGGCCTTCCTTGCCTTTTTCATTGTAATGACTATCCATGTTGTTACTAAGTATATTCTATCCTGTCAATGTATCATATCATTTAACCATTCTCTAGCCACCTTCCACCTTTAATTATCAGAAGTTATGATGGCTTCCCTCTTCCCTCTTCCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCGGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTCATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGGATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCAGCCAGCCTCGGCCTCCTGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTTAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCATGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTAAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGC
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ACCCCAGCTGGGGTGCAGTGGCTATTCACAGGCACAATAGTAGCTCACTGCAGCCTTGAATCCCTGGGCTCAAGCCATCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACTGCCCTGCCTGAACCTGTTATTTTTAGGAGGCTGGAGCAGATGTGCCCTCTCTTTTCTAGTGTGGAGATTCTGATTTTGGAGCTGAAGTCGGGCACGGGGATTTAGAGTGAGGGCCTGGGCGGGCCCTGTTCTGCCCCACAAGAAGCCTGCAGGCCCAGTGACCGTCTGTAGGCCTCTGTTTTTCCTGACCTCATGCTAACTGCTCACCTCGAGGGCTCTACTGGTCCCTAAGTGAATGATAAATGTCCCAGATCCATAAACAAGTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTGAGCTGGAGTCTCACTCTGTTGCCCAGGCTGGAGAACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGTCTTCCAGGGTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCAAGCCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGAGTTTCACCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGAATTATAGGTGTGAGCTATCGCACCTGGCCATAAACAACTTTTTCCAAACAACTTCTCAGAAGCAAAATAAAACAGTGGACTTTTCCAATGGCGCTTCCCTCCCCACTCTGCACCCTGTGCTCCGGAAGTTTTGGCCAGAAGTGAAAGGGAAAGAAAAGTCTTCAATTATACCAGCTTCCAACTGAGTGGGGAGAGTTGGTGGAGGGCATGTCTTAGGAAGTTTTGATATGAAAGGCTTCCCCATTGTCAACCAGAACCTGCTTGGGACTTTCCAGAACGGTCAGGGGCAGTGACTCAGAGGGCATGTGACATGCCTCAAATACAGTTCCCAGCATTCCCACTGCAATCTTCTAGCCTGCAAACACACACTTGATTCCAAAGAAAATGTCAACTGCTTTGTGTAACAGTGAGGCAATTATATATACACTGGCTGTTGAGGAACCAGGCAACAGAACTGGGGCCATGCAAAATAAGGAAGCTCAAACTAACTTCTCCTTTTAGTTTCTCTAGTGATTTGTCAAATGTTTGCTGAATGCCTGCTGCATGCATCCCTCCTGGGGCCAGCAGGACTGTCCCGTGGATGGACGTTTCTCCGTTCTATGTCTCTCAGTGAGAACGCTCTCTGGGAGAAGACCAGCTCATAACCCCTGCTTGGTAATGGCTGCTCAGGGCCAGGAGAGCAGTGCTGCTGATTCCTGGTGGTGGAAACTTGGTCAAGTGGCTGGGCTTCTCTAAGCCTCATCATCTCATCTTTAAAGGGAATAGCACCACCACCTCCCAGTGAGAATGAAACATGAGAAAACATAAATAAGGCACCGGGTCCAGCCGCTGGAACACAGCTGATGATGAGAAATATACACAAATCTTTTCCATTATTTAATAACATCCACACTAATTATAACTTTAAGGAAATTGCCATGACTTTGCCTGCAGAACAGTGCTGATAAGAAAAGCAGAAAAGGAAAAAAAGAAAAAAAATTCAAAATTTTACCTAAATGAAAGGACACAAAACAAATTCACCTGATTCATGTGGGAAGGACAGGCTGCCTTGAGTTCTGCAGGGAGCAAAGTTGGCAATCCTGGAGTTCAGCATTGCTACGGTGGCTGGGTGGCTGAGGCCCAAAGCACTGCGCAGTGGTGTGTGTGTGCGTGTGCCCCCCAGGGCATGTTTCTGATCCCGCTGGCTGCCCTCTGCCTGGGCCACTGCTCACCTTGGTTTTGATCTGCTTGGCCGTGTCGGTGAGGAAGATGGAGGAGTTGGGGTCGCTGGCACTCATTTTGGTCTGGGCGCCCTGCAGGGCTGGGAAGAAGGTGGAGTGCAGCAGGGCTGGTTTAGGATAGCCGATCCTGGGGGCGACGTCCCTTGTCATTCTAAAGTAAGGACCCTGTGGGGAGAGTAAGGACCCTGATGAGGGCGGCCAGAAAACATGCCAGCTTTCAGCCATGAGCAGTCCCTGTGAGCATCTTCCCAGAAGGCTCTCATGCTTCCAACCAAAGAAATTCACTCCCTCCTCCCCTTCATCTTTTCCTTTTTTTTTTTTAAATTTTACTTCCAGTTCTGGGATACATGTACAGAACACGCAGGTTTGTTACATAGGTATACATGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCACTCCCCAACTTTCTTTCCTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGATGCGCTCTCGCTGCAACCTCTGCCTCTGGGGTTCAAGCGAGGCGAGTAGCTGGGATTACAGGCGCCTGCCACCACATGTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAGAGTGCTGGTATTACAGGCGTGAGCCACCCTGCCTGGCTGCCCATCATATCTTTCAATACCTCTCCCCGCTGAAGAGTAAGAGGAACCTGCTGTCAATGCCCCAGACTTAGAGAGCCTTGCTTTTCTGCCTGCTGACCTGGTCAATGGCACATGGGATAAGGCACTGGATATCCGTCCTGTCTCGGAAGATCTGTGGGAATGAGTTGCTGAAGGAGGGAGCAGCCTGGATGGCAGGAAAACTGATCTTCCCTGAAAATGAGAAAAAGTATTTTTACACGTGAGATGAGTTCCTGTTCTGCTTAGTTAATAAAGGAATGAACAAAAACAGGTTTTCTCCCATTATAAAACAATCATTAAAATAAATCTAAAAAATACAGAAAAGTAGAAAGAACAAGCTGTACAGTTGCAATGTGTCTGATTTCATCCATTTTCTTTATATATTTTACTCTATGCATTTTTGTTGTGATTACACTATATTTGGTCTTTCCTTGGCTTTTTCTTTTCCTTTTTTTTTTCTCAGAAGGAGTCTCGCTTTGTTGCCAGGCTGGAGTGTGGTGGCTCGATCTCAGCTCACCGCTACCTCTGCCTCCTGGGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGTGCGTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCATCATGTTGGCCAGCATGGTCTCAATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCCGGCCTTCCTTGCCTTTTTCATTGTAATGACTATCCATGTTGTTACTAAGTATATTCTATCCTGTCAATGTATCATATCATTTAACCATTCTCTAGCCACCTTCCACCTTTAATTATCAGAAGTTATGATGGCTTCCCTCTTCCCTCTTCCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCGGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTCATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGGATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCAGCCAGCCTCGGCCTCCTGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTTAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCATGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTAAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGC
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Task1_train_20322
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Assess the clinical impact of this variant on gene WARS1 (tryptophanyl-tRNA synthetase 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; See cases
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GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACATGGGAGACTTTTCATTTTGCTCTGTACTAAGAAAAATTCTTATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGAGTCTACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAATAAATAAATAAATTAAAAAAAAAAAGAAGTTATGATGAATGTATTTTGATATTTAAAAGTGTTTAGTGTTTTGGATGTTGTTGCTGTTATTACTGTCATTAGTATTTGCTTAGACCTGCAGAAGCAGAACTTTTGACCTCTCTATGGCCCGACAGGTGGTGCCACGCCAGCCCCCACCAAGTGGCGGTACCCAGACCCTTGGGTGAGCGCAGAGGTTTCCGGGCCCTGGGCACGCGGCTGGCCCAGCGTGACCCTGACGCTGTGGAGCACACGCCGCTGTGGCTCTGGCTCCAAGCAGGGTGAACGCTCCTCACGGAGAGCCCCGGCAGCGCATCCCAGGGAGCTGGCTCGGCTGGCAGCTGACTGAAGGCCTCAAGGGCCTGCTATGCCTGAAGCCACGCACCAAACATCAAGTAGAGGAGGGGATCAGAAGGCCCAGCCACAAGTCTCAAGGACCAAAAGTCTAAAAGTCTACGAAGCCAATGCATCTGAAAGACACATGGAAATTTATGGAGAGGGCCATGAAGGCATGCACGTGGGAGGCAAACCATTTGCACATCTGCTGGGGTGGAGCCATGGAAGGAGAGCAGGGCAGGGGTGGGAAGGCTCCAGAAGACCTCGTGTCAAGCCCCTCATCTTACATGTGGGGACACTGAGGCCCAGGGAGACAAAGACTCAAAGGCCCTCTCATGGGCAGCAGACCCAGCTGTCCTTCTTCATCACCCCTGGGTTCCATCCAAGGCCACCCTACACTGACTGGGGTCCCACCAGAGCTGTTGGAACTCCAAAGTCATCCTTAGATTTTTCTTTCTTCTAAACCTTAAGACGGGTGACAAGAGAGGGACAGACTCACATCCTGAAGTGCAGCTTCACCCAACCCAGAGAAGCTGCTCAATGCATTACACTAGCTAGTCAGATTCCAGGACAACGATGACCCACCCACGCCTGGGCATCCTACTTAAAGAGACAGTTGCAAACGCTAACATCTCAGAGATATTTAAACCAGGCATGTGTCTCCTCCAGAACTCTGCTCCTTTTTGAAGGGTGCAGGGAGTGGTCCACAGCAGCAGTGGGCCTCTTACCAATGCAGTCGCTGTCAGTGAAGCCGAAAATGCCTTTCACTTGGTTGAAGGTAACATGCTTTTGAATCTTCACCACATTTTTGTAGAAACCTGAGCTCATCCTGCAAAGACAACGAGAATGAAATCCCAAACGGAGGGCGGCCTTCACTGAAGGCAAAGTCACAGTTATTAAAATTGGATGCCAATGAGTAGTGGCATGGGCCAGACTCGGGGCCACATTGTGGTCAACACGTAAGCACTGGGAAGGTGCCAGGAAGTCATCTGTAGGCAAAGATACCTGCATCAGGCAAAGCAGACACACGTTTACCTGTGGAGTTGACTGGGAAAGGCAGAAACCAGTGTGAAACCGACGTGAAGCAGACATACAAACAAGGCAAGAACACAAGCAGATTCAGAGACTTGCAGCTAGCATGAAAAATTTAAATTCTGCCAGGGTCAGCAGTTCAGTGGGCTGTGGAGCTCAAGTCTGGGAGCCCCCAGGAGCTTCTTAGCTGAGACATACTGTGTTGTGGGAGACCATCTGCTTGTTGTCGGATGAGCGTATGGATAGAAACCCACGGCCCGAGAAGGAGGAAGGCCTGTTTCAGTGCAGCTGGTCCTCCTAGTCTCTGGCCACTGCTCCCCCCTGCTGTTTGGGCAGAACTAACCCTATCCACAGCAACAGGGCTAGGCCACAGTGGCTGATTCAAGCAACCCAACTCTCTCTTCTGGATGGTGAGGGGTGTGGGTACCAGGCCTGAATGTGTGGCATCCATTCCACTACCAGAAGGAACTAGGCTGAAGAAGAAGCAAACACAGTGGGGTGTAGGGGTTTGGCAGAACCCAGAGTGGCTTCTTTTTTTTTGTTTTGAGACAGAGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGCTCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCAAGTGGCTTCTTATATTGCATCTTTGTATTACTATATTCAGTAGCTTTTTCTCTAGGCCCTACCATGTGTTAGACACTACGAGGGAAAAGGGGGAAGGCTGGTGTCTTTTAAGTGTTTGCACCATGTGGCAGGAGCTGTGCTAGATGCTGCGTATGTGTCAATACTCCTAAAATCCCCTTCAAAGTAGTAGCATTGCCTCCACCTTACAGTTAGACTAGGCTCAAAGAAGTTCAGGGTCATAGTCACAGGCCCAGTGAGTACAGGGGCTGGGATCCCAACACAGATTCACCTGGCCCCAAAGCCTATGCTTTTCTCACCACATCTTATCCTTTAGAAGAGTTTAGACTTTTGGGGCAGGGTGGAGAACTACTGAATGTCTTTGTGCAGGTGGGGTGGGGTGTCAGGAGTGCAGGAACACTGGCCGTTTGTGCTGGGCGAAGCACAATGCTGGGAGGCCTGTAACGGTCAAGGTCAGTGCCAAGGCCTGTCCAGGTTGAGCAGAGGCAGCACGTGAGGGATGGACTGTGTCTTTCGCCTAGCAGCCGGCTGAGTTTCAGGCCCTGGGGGGCACTGGAGAGGGCGGGCGCAGTACTGTGAAGGGGCATGCCAGGAGAACCCAGCATCTGTGTCACCCACTCAGCACAATGGAAACAACAGAGAGCAAGAGCACAGCCAACAGCAGCACTGCCTGGAAAGATGCGGCCTTTGTCCTCCTGCCAAGCAAGCCAAGAACACCGCAGGCAGGGAGGGTCCCTCCTGGGCACCGCAGCAGGACTCACAGCCAGTAAGGACAGCAGCTGTCTGTCACCTGGGGAGATGGGCTGCAGCAAAGACTCCATGCGCCCTTGGGATTGAGGCACCTGGGACACCCTAACCCCTACAAGGAGGGAAAGTCTCCAGTACCCCCAAACTGTGGCAGGACTGTAGCTTCACGGCGTCTGACTGGTATTTCTGAGTTAGAGCACGCTGCCC
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GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACATGGGAGACTTTTCATTTTGCTCTGTACTAAGAAAAATTCTTATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGAGTCTACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAATAAATAAATAAATTAAAAAAAAAAAGAAGTTATGATGAATGTATTTTGATATTTAAAAGTGTTTAGTGTTTTGGATGTTGTTGCTGTTATTACTGTCATTAGTATTTGCTTAGACCTGCAGAAGCAGAACTTTTGACCTCTCTATGGCCCGACAGGTGGTGCCACGCCAGCCCCCACCAAGTGGCGGTACCCAGACCCTTGGGTGAGCGCAGAGGTTTCCGGGCCCTGGGCACGCGGCTGGCCCAGCGTGACCCTGACGCTGTGGAGCACACGCCGCTGTGGCTCTGGCTCCAAGCAGGGTGAACGCTCCTCACGGAGAGCCCCGGCAGCGCATCCCAGGGAGCTGGCTCGGCTGGCAGCTGACTGAAGGCCTCAAGGGCCTGCTATGCCTGAAGCCACGCACCAAACATCAAGTAGAGGAGGGGATCAGAAGGCCCAGCCACAAGTCTCAAGGACCAAAAGTCTAAAAGTCTACGAAGCCAATGCATCTGAAAGACACATGGAAATTTATGGAGAGGGCCATGAAGGCATGCACGTGGGAGGCAAACCATTTGCACATCTGCTGGGGTGGAGCCATGGAAGGAGAGCAGGGCAGGGGTGGGAAGGCTCCAGAAGACCTCGTGTCAAGCCCCTCATCTTACATGTGGGGACACTGAGGCCCAGGGAGACAAAGACTCAAAGGCCCTCTCATGGGCAGCAGACCCAGCTGTCCTTCTTCATCACCCCTGGGTTCCATCCAAGGCCACCCTACACTGACTGGGGTCCCACCAGAGCTGTTGGAACTCCAAAGTCATCCTTAGATTTTTCTTTCTTCTAAACCTTAAGACGGGTGACAAGAGAGGGACAGACTCACATCCTGAAGTGCAGCTTCACCCAACCCAGAGAAGCTGCTCAATGCATTACACTAGCTAGTCAGATTCCAGGACAACGATGACCCACCCACGCCTGGGCATCCTACTTAAAGAGACAGTTGCAAACGCTAACATCTCAGAGATATTTAAACCAGGCATGTGTCTCCTCCAGAACTCTGCTCCTTTTTGAAGGGTGCAGGGAGTGGTCCACAGCAGCAGTGGGCCTCTTACCAATGCAGTCGCTGTCAGTGAAGCCGAAAATGCCTTTCACTTGGTTGAAGGTAACACGCTTTTGAATCTTCACCACATTTTTGTAGAAACCTGAGCTCATCCTGCAAAGACAACGAGAATGAAATCCCAAACGGAGGGCGGCCTTCACTGAAGGCAAAGTCACAGTTATTAAAATTGGATGCCAATGAGTAGTGGCATGGGCCAGACTCGGGGCCACATTGTGGTCAACACGTAAGCACTGGGAAGGTGCCAGGAAGTCATCTGTAGGCAAAGATACCTGCATCAGGCAAAGCAGACACACGTTTACCTGTGGAGTTGACTGGGAAAGGCAGAAACCAGTGTGAAACCGACGTGAAGCAGACATACAAACAAGGCAAGAACACAAGCAGATTCAGAGACTTGCAGCTAGCATGAAAAATTTAAATTCTGCCAGGGTCAGCAGTTCAGTGGGCTGTGGAGCTCAAGTCTGGGAGCCCCCAGGAGCTTCTTAGCTGAGACATACTGTGTTGTGGGAGACCATCTGCTTGTTGTCGGATGAGCGTATGGATAGAAACCCACGGCCCGAGAAGGAGGAAGGCCTGTTTCAGTGCAGCTGGTCCTCCTAGTCTCTGGCCACTGCTCCCCCCTGCTGTTTGGGCAGAACTAACCCTATCCACAGCAACAGGGCTAGGCCACAGTGGCTGATTCAAGCAACCCAACTCTCTCTTCTGGATGGTGAGGGGTGTGGGTACCAGGCCTGAATGTGTGGCATCCATTCCACTACCAGAAGGAACTAGGCTGAAGAAGAAGCAAACACAGTGGGGTGTAGGGGTTTGGCAGAACCCAGAGTGGCTTCTTTTTTTTTGTTTTGAGACAGAGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGCTCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCAAGTGGCTTCTTATATTGCATCTTTGTATTACTATATTCAGTAGCTTTTTCTCTAGGCCCTACCATGTGTTAGACACTACGAGGGAAAAGGGGGAAGGCTGGTGTCTTTTAAGTGTTTGCACCATGTGGCAGGAGCTGTGCTAGATGCTGCGTATGTGTCAATACTCCTAAAATCCCCTTCAAAGTAGTAGCATTGCCTCCACCTTACAGTTAGACTAGGCTCAAAGAAGTTCAGGGTCATAGTCACAGGCCCAGTGAGTACAGGGGCTGGGATCCCAACACAGATTCACCTGGCCCCAAAGCCTATGCTTTTCTCACCACATCTTATCCTTTAGAAGAGTTTAGACTTTTGGGGCAGGGTGGAGAACTACTGAATGTCTTTGTGCAGGTGGGGTGGGGTGTCAGGAGTGCAGGAACACTGGCCGTTTGTGCTGGGCGAAGCACAATGCTGGGAGGCCTGTAACGGTCAAGGTCAGTGCCAAGGCCTGTCCAGGTTGAGCAGAGGCAGCACGTGAGGGATGGACTGTGTCTTTCGCCTAGCAGCCGGCTGAGTTTCAGGCCCTGGGGGGCACTGGAGAGGGCGGGCGCAGTACTGTGAAGGGGCATGCCAGGAGAACCCAGCATCTGTGTCACCCACTCAGCACAATGGAAACAACAGAGAGCAAGAGCACAGCCAACAGCAGCACTGCCTGGAAAGATGCGGCCTTTGTCCTCCTGCCAAGCAAGCCAAGAACACCGCAGGCAGGGAGGGTCCCTCCTGGGCACCGCAGCAGGACTCACAGCCAGTAAGGACAGCAGCTGTCTGTCACCTGGGGAGATGGGCTGCAGCAAAGACTCCATGCGCCCTTGGGATTGAGGCACCTGGGACACCCTAACCCCTACAAGGAGGGAAAGTCTCCAGTACCCCCAAACTGTGGCAGGACTGTAGCTTCACGGCGTCTGACTGGTATTTCTGAGTTAGAGCACGCTGCCC
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Task1_train_20323
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This variant affects the gene WARS1 (tryptophanyl-tRNA synthetase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neuronopathy, distal hereditary motor, type 9
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GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACATGGGAGACTTTTCATTTTGCTCTGTACTAAGAAAAATTCTTATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGAGTCTACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAATAAATAAATAAATTAAAAAAAAAAAGAAGTTATGATGAATGTATTTTGATATTTAAAAGTGTTTAGTGTTTTGGATGTTGTTGCTGTTATTACTGTCATTAGTATTTGCTTAGACCTGCAGAAGCAGAACTTTTGACCTCTCTATGGCCCGACAGGTGGTGCCACGCCAGCCCCCACCAAGTGGCGGTACCCAGACCCTTGGGTGAGCGCAGAGGTTTCCGGGCCCTGGGCACGCGGCTGGCCCAGCGTGACCCTGACGCTGTGGAGCACACGCCGCTGTGGCTCTGGCTCCAAGCAGGGTGAACGCTCCTCACGGAGAGCCCCGGCAGCGCATCCCAGGGAGCTGGCTCGGCTGGCAGCTGACTGAAGGCCTCAAGGGCCTGCTATGCCTGAAGCCACGCACCAAACATCAAGTAGAGGAGGGGATCAGAAGGCCCAGCCACAAGTCTCAAGGACCAAAAGTCTAAAAGTCTACGAAGCCAATGCATCTGAAAGACACATGGAAATTTATGGAGAGGGCCATGAAGGCATGCACGTGGGAGGCAAACCATTTGCACATCTGCTGGGGTGGAGCCATGGAAGGAGAGCAGGGCAGGGGTGGGAAGGCTCCAGAAGACCTCGTGTCAAGCCCCTCATCTTACATGTGGGGACACTGAGGCCCAGGGAGACAAAGACTCAAAGGCCCTCTCATGGGCAGCAGACCCAGCTGTCCTTCTTCATCACCCCTGGGTTCCATCCAAGGCCACCCTACACTGACTGGGGTCCCACCAGAGCTGTTGGAACTCCAAAGTCATCCTTAGATTTTTCTTTCTTCTAAACCTTAAGACGGGTGACAAGAGAGGGACAGACTCACATCCTGAAGTGCAGCTTCACCCAACCCAGAGAAGCTGCTCAATGCATTACACTAGCTAGTCAGATTCCAGGACAACGATGACCCACCCACGCCTGGGCATCCTACTTAAAGAGACAGTTGCAAACGCTAACATCTCAGAGATATTTAAACCAGGCATGTGTCTCCTCCAGAACTCTGCTCCTTTTTGAAGGGTGCAGGGAGTGGTCCACAGCAGCAGTGGGCCTCTTACCAATGCAGTCGCTGTCAGTGAAGCCGAAAATGCCTTTCACTTGGTTGAAGGTAACATGCTTTTGAATCTTCACCACATTTTTGTAGAAACCTGAGCTCATCCTGCAAAGACAACGAGAATGAAATCCCAAACGGAGGGCGGCCTTCACTGAAGGCAAAGTCACAGTTATTAAAATTGGATGCCAATGAGTAGTGGCATGGGCCAGACTCGGGGCCACATTGTGGTCAACACGTAAGCACTGGGAAGGTGCCAGGAAGTCATCTGTAGGCAAAGATACCTGCATCAGGCAAAGCAGACACACGTTTACCTGTGGAGTTGACTGGGAAAGGCAGAAACCAGTGTGAAACCGACGTGAAGCAGACATACAAACAAGGCAAGAACACAAGCAGATTCAGAGACTTGCAGCTAGCATGAAAAATTTAAATTCTGCCAGGGTCAGCAGTTCAGTGGGCTGTGGAGCTCAAGTCTGGGAGCCCCCAGGAGCTTCTTAGCTGAGACATACTGTGTTGTGGGAGACCATCTGCTTGTTGTCGGATGAGCGTATGGATAGAAACCCACGGCCCGAGAAGGAGGAAGGCCTGTTTCAGTGCAGCTGGTCCTCCTAGTCTCTGGCCACTGCTCCCCCCTGCTGTTTGGGCAGAACTAACCCTATCCACAGCAACAGGGCTAGGCCACAGTGGCTGATTCAAGCAACCCAACTCTCTCTTCTGGATGGTGAGGGGTGTGGGTACCAGGCCTGAATGTGTGGCATCCATTCCACTACCAGAAGGAACTAGGCTGAAGAAGAAGCAAACACAGTGGGGTGTAGGGGTTTGGCAGAACCCAGAGTGGCTTCTTTTTTTTTGTTTTGAGACAGAGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGCTCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCAAGTGGCTTCTTATATTGCATCTTTGTATTACTATATTCAGTAGCTTTTTCTCTAGGCCCTACCATGTGTTAGACACTACGAGGGAAAAGGGGGAAGGCTGGTGTCTTTTAAGTGTTTGCACCATGTGGCAGGAGCTGTGCTAGATGCTGCGTATGTGTCAATACTCCTAAAATCCCCTTCAAAGTAGTAGCATTGCCTCCACCTTACAGTTAGACTAGGCTCAAAGAAGTTCAGGGTCATAGTCACAGGCCCAGTGAGTACAGGGGCTGGGATCCCAACACAGATTCACCTGGCCCCAAAGCCTATGCTTTTCTCACCACATCTTATCCTTTAGAAGAGTTTAGACTTTTGGGGCAGGGTGGAGAACTACTGAATGTCTTTGTGCAGGTGGGGTGGGGTGTCAGGAGTGCAGGAACACTGGCCGTTTGTGCTGGGCGAAGCACAATGCTGGGAGGCCTGTAACGGTCAAGGTCAGTGCCAAGGCCTGTCCAGGTTGAGCAGAGGCAGCACGTGAGGGATGGACTGTGTCTTTCGCCTAGCAGCCGGCTGAGTTTCAGGCCCTGGGGGGCACTGGAGAGGGCGGGCGCAGTACTGTGAAGGGGCATGCCAGGAGAACCCAGCATCTGTGTCACCCACTCAGCACAATGGAAACAACAGAGAGCAAGAGCACAGCCAACAGCAGCACTGCCTGGAAAGATGCGGCCTTTGTCCTCCTGCCAAGCAAGCCAAGAACACCGCAGGCAGGGAGGGTCCCTCCTGGGCACCGCAGCAGGACTCACAGCCAGTAAGGACAGCAGCTGTCTGTCACCTGGGGAGATGGGCTGCAGCAAAGACTCCATGCGCCCTTGGGATTGAGGCACCTGGGACACCCTAACCCCTACAAGGAGGGAAAGTCTCCAGTACCCCCAAACTGTGGCAGGACTGTAGCTTCACGGCGTCTGACTGGTATTTCTGAGTTAGAGCACGCTGCCC
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GAGCGCCTCTACCCGGCCGCGACCCCATCCGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCTGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAACCGCCCGCCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCTGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACATGGGAGACTTTTCATTTTGCTCTGTACTAAGAAAAATTCTTATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGAGTCTACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAATAAATAAATAAATTAAAAAAAAAAAGAAGTTATGATGAATGTATTTTGATATTTAAAAGTGTTTAGTGTTTTGGATGTTGTTGCTGTTATTACTGTCATTAGTATTTGCTTAGACCTGCAGAAGCAGAACTTTTGACCTCTCTATGGCCCGACAGGTGGTGCCACGCCAGCCCCCACCAAGTGGCGGTACCCAGACCCTTGGGTGAGCGCAGAGGTTTCCGGGCCCTGGGCACGCGGCTGGCCCAGCGTGACCCTGACGCTGTGGAGCACACGCCGCTGTGGCTCTGGCTCCAAGCAGGGTGAACGCTCCTCACGGAGAGCCCCGGCAGCGCATCCCAGGGAGCTGGCTCGGCTGGCAGCTGACTGAAGGCCTCAAGGGCCTGCTATGCCTGAAGCCACGCACCAAACATCAAGTAGAGGAGGGGATCAGAAGGCCCAGCCACAAGTCTCAAGGACCAAAAGTCTAAAAGTCTACGAAGCCAATGCATCTGAAAGACACATGGAAATTTATGGAGAGGGCCATGAAGGCATGCACGTGGGAGGCAAACCATTTGCACATCTGCTGGGGTGGAGCCATGGAAGGAGAGCAGGGCAGGGGTGGGAAGGCTCCAGAAGACCTCGTGTCAAGCCCCTCATCTTACATGTGGGGACACTGAGGCCCAGGGAGACAAAGACTCAAAGGCCCTCTCATGGGCAGCAGACCCAGCTGTCCTTCTTCATCACCCCTGGGTTCCATCCAAGGCCACCCTACACTGACTGGGGTCCCACCAGAGCTGTTGGAACTCCAAAGTCATCCTTAGATTTTTCTTTCTTCTAAACCTTAAGACGGGTGACAAGAGAGGGACAGACTCACATCCTGAAGTGCAGCTTCACCCAACCCAGAGAAGCTGCTCAATGCATTACACTAGCTAGTCAGATTCCAGGACAACGATGACCCACCCACGCCTGGGCATCCTACTTAAAGAGACAGTTGCAAACGCTAACATCTCAGAGATATTTAAACCAGGCATGTGTCTCCTCCAGAACTCTGCTCCTTTTTGAAGGGTGCAGGGAGTGGTCCACAGCAGCAGTGGGCCTCTTACCAATGCAGTCGCTGTCAGTGAAGCCGAAAATGCCTTTCACTTGGTTGAAGGTAACACGCTTTTGAATCTTCACCACATTTTTGTAGAAACCTGAGCTCATCCTGCAAAGACAACGAGAATGAAATCCCAAACGGAGGGCGGCCTTCACTGAAGGCAAAGTCACAGTTATTAAAATTGGATGCCAATGAGTAGTGGCATGGGCCAGACTCGGGGCCACATTGTGGTCAACACGTAAGCACTGGGAAGGTGCCAGGAAGTCATCTGTAGGCAAAGATACCTGCATCAGGCAAAGCAGACACACGTTTACCTGTGGAGTTGACTGGGAAAGGCAGAAACCAGTGTGAAACCGACGTGAAGCAGACATACAAACAAGGCAAGAACACAAGCAGATTCAGAGACTTGCAGCTAGCATGAAAAATTTAAATTCTGCCAGGGTCAGCAGTTCAGTGGGCTGTGGAGCTCAAGTCTGGGAGCCCCCAGGAGCTTCTTAGCTGAGACATACTGTGTTGTGGGAGACCATCTGCTTGTTGTCGGATGAGCGTATGGATAGAAACCCACGGCCCGAGAAGGAGGAAGGCCTGTTTCAGTGCAGCTGGTCCTCCTAGTCTCTGGCCACTGCTCCCCCCTGCTGTTTGGGCAGAACTAACCCTATCCACAGCAACAGGGCTAGGCCACAGTGGCTGATTCAAGCAACCCAACTCTCTCTTCTGGATGGTGAGGGGTGTGGGTACCAGGCCTGAATGTGTGGCATCCATTCCACTACCAGAAGGAACTAGGCTGAAGAAGAAGCAAACACAGTGGGGTGTAGGGGTTTGGCAGAACCCAGAGTGGCTTCTTTTTTTTTGTTTTGAGACAGAGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGCTCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCAAGTGGCTTCTTATATTGCATCTTTGTATTACTATATTCAGTAGCTTTTTCTCTAGGCCCTACCATGTGTTAGACACTACGAGGGAAAAGGGGGAAGGCTGGTGTCTTTTAAGTGTTTGCACCATGTGGCAGGAGCTGTGCTAGATGCTGCGTATGTGTCAATACTCCTAAAATCCCCTTCAAAGTAGTAGCATTGCCTCCACCTTACAGTTAGACTAGGCTCAAAGAAGTTCAGGGTCATAGTCACAGGCCCAGTGAGTACAGGGGCTGGGATCCCAACACAGATTCACCTGGCCCCAAAGCCTATGCTTTTCTCACCACATCTTATCCTTTAGAAGAGTTTAGACTTTTGGGGCAGGGTGGAGAACTACTGAATGTCTTTGTGCAGGTGGGGTGGGGTGTCAGGAGTGCAGGAACACTGGCCGTTTGTGCTGGGCGAAGCACAATGCTGGGAGGCCTGTAACGGTCAAGGTCAGTGCCAAGGCCTGTCCAGGTTGAGCAGAGGCAGCACGTGAGGGATGGACTGTGTCTTTCGCCTAGCAGCCGGCTGAGTTTCAGGCCCTGGGGGGCACTGGAGAGGGCGGGCGCAGTACTGTGAAGGGGCATGCCAGGAGAACCCAGCATCTGTGTCACCCACTCAGCACAATGGAAACAACAGAGAGCAAGAGCACAGCCAACAGCAGCACTGCCTGGAAAGATGCGGCCTTTGTCCTCCTGCCAAGCAAGCCAAGAACACCGCAGGCAGGGAGGGTCCCTCCTGGGCACCGCAGCAGGACTCACAGCCAGTAAGGACAGCAGCTGTCTGTCACCTGGGGAGATGGGCTGCAGCAAAGACTCCATGCGCCCTTGGGATTGAGGCACCTGGGACACCCTAACCCCTACAAGGAGGGAAAGTCTCCAGTACCCCCAAACTGTGGCAGGACTGTAGCTTCACGGCGTCTGACTGGTATTTCTGAGTTAGAGCACGCTGCCC
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Task1_train_20324
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A variant has been detected on Chromosome 14 in WARS1 (tryptophanyl-tRNA synthetase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Neuronopathy, distal hereditary motor, type 9
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TATACAAAAATTAACTCAAAAAGGATCAGAAACTGAAATGTAAGAGCTAAAACCACAAAACTCTGAGAAGAAACCATAGGTGTAAATCTTCACAACCTTCGATTAGTCAGTGGTTTCTCAGATATGACACCAAAAACACAATCAATCAAAGATAAAATAAACTGGACTTCATCAAAATTAAAAACTTTCATACTTCAAAGGACTATCAGTAGAGTGAAGAGACAACCTATATAATGGGAGCAAATATTTGCAAGTAATATTTGAATAAGAAACTAGTATCCAGAATATAGAAAGAACTATTATAACTAACAATAAAAAGACAACCCAATTAAAAAGTAGGCAAAGGATCTGAATAGACATTTCTCTAAAGATATAAAAATTGTTAATAAGCACATGAAAAGATTCTCAACATCCTTGTCATTAGGGAAATACAATCAAAACCACAATGAAATACTACTTCACACCTATTAGGATGGCTATAAAACACAACAACATGGAAAATAACAAGAGTGGGTGAAGATGTGGAGAAATGGGAAGCTTCCTATGTTGCTGGTGGGAAAGTAAAATGATACAGTTGCTGTAGAAAAGTCTGTCAGTTCCTCAAAGAGTTAAACATGGAATTACTATATAAGCCATTAATTCTATTTCGAGGTATATGCCCAAGAGAATTGAAAACATATATCCACCCAAAAACTTGTATACAAATGGTCAGAGCAGCATTGTTGATAACCAAAAAGTGAAAATAACTCAAACGTCCATCAACTAATGAATGAATAAACAAAATGTGAGGTATATCCATTCAATGGAATATTATTTGGCAATAAAAAGGAATCCAGTATGGATACATGCTACAACATGGAGGAACCTTGAAAATGTTATGCCAAGTAAAAGAAGCCAGACACAAAAGGCCACATGTTACATGATCCCATTTATATAAAATGCCTAAATCTAGATATAGAGAAAGCAGACTAATGGTTGCCAGTGGGGAGGGAGAAATGGGGGATGACTGTTAACCCATTTATGCCTACCTACTGTTCCAAAATTGGAATGCTAAACTTGTGGGAGTTATTGATATCTTACTGCTCAAGGTGATTGCCAAGGTCTGATTTTTCACAAAAAATTTTTACAACTTCTGGCATAAATGGGTTAATGGGTAGAAGTTTCCTTTTGGGGTGATGAAATGTTTTGGAATTAGATAGTCTTGATGGTCTCACAACCTTGTGAATATACTAAAACCCACTTAACTGTACATTTAAAAAAATAAGTTTTATAGTATGTGAATTAAGGAAAATTTTTTATTATATTCCACCCAGAAAGTGGGTTGAGCAAGGCCTGGAGTTCTTTGCAGGTAGAATTTGAAGTGTTTGGGCAGACTGCTGGGCTCTGTCCTGGGGTTGTTCTCCTGTAAGCGTGAAGTGCCAGTAGAACAGAACAACCCTACATCAGATCATAAATTCCATGGACACAGCTTCAAAAAGGGGGCTGCCTCAGCCCAGATAACTGTAGGTTGGGAGAGGCAGAAACTCTTTTGGAACCTGCCCATATCTTGACGTTATCTGCGTGGAATTTACGGCCTAAGGTACAGATAATCTGTTCCATGCATTCTCTGTTGGTTTGTCTGTTGGTATTGTTTATGAGCAAGTCAATACAATAGGAGGAAGAGGGTTTGGAATTTCAGGAAGCCTACTGTTTGTCATGTGGGAAATGCTGATCTTGGACATATTATTCTCTTTTGTTTTCATGACATTTTATAATTTCTTTACAGCCTGTAATCTGGGAAGAATCTCACCTGCTATTAATATGATTCCCACCTTGTGAGGTGGGCAGTCTACAAATGAAAAAACTAAGAGCCTGAGGGTGATGGACAAGCATGATCCCACAGTGGGTTACTGACAGGACAGAGGATGGATCTCAGTCTTACCACAGCTGGCCATCACTTTTCCCACAGTACCAGGTGGCTTATGAAGAGAGTGTCTTACGATTTTTTTGAACTAAAAGAAGAGGACAGGTGAGAAGGCCTGTGGTGAAGAGCCCCTGACCTGTGTGAGAAGAAGATGCCTCTGCGCAGGAAGTGGTGTGGTCTTTGGCCGGTGGCTCTCTCTATTCGGTTTATTAGCTCTTTGTCAATTTTACTACTTCCAAACCGAACTGGAAAAAAAGAAAAGATGACTTTCTTAGGTGGCAGGAGGTTTAGTGATCAGATATTACTGAAATGAAGATGAAAAGTGAGTGATCCATGCACAATCTTAATGAACACAAACCTCTTTAGGCCTTCTGCTAAAGGTCCTTACCCCCAACATGAAGTAAAAGGTCTTTGGATTAAAACAACAGCTGAGATCAACACAACCAACAAAACAGGAAATAAATTACAACACAAAATGCTGTTTTGCCTGAGACTGGGTTCTGATGGGAAACATATTCAGAATGCAGTCCAGCTAGCAACTTTTGACAACAAAATATAAACATATACATATATAAATAGGTATATATATATATATTTGTTTATTAAGGTAAAATTTATATTCATTGACAACCATGATTTCTCACATTCTTTATTTGTTGAACTGAATTAATGTCGGTCTTCAAGTGAATTTTCCCTCATTGATAGTCTATACTGAAATCATGGAAAATGGCTTTGACTTAGATGAAAACATTTCAGTTCTGTTTCTTCTCTGATAATTAGCAATGATCTCAGAGTAAAGACTTCAATGGAATGGCAACAGTCTTTCCTGAGCAGGAAGGCCCTCAAGGAAGGGCATGACAGTAAGAACTTGCCCGATGTGAGAAGTCACTGCTCTTAAGCTGACTTCCAGCCTTCTAGGTCCATAGTCAGTATCACTGGAGGTGAAACCTAAGTAATCTATGATTGACTTGTAGCCACTAAATGTTATAAATGGCCATTTCAATAGACCTTTCCCAAGTTCTGAAGTGCTCAAAAAAAGGGAAAACCTTCTATTAAGCTGTCTACTATAGATCATTATTTTGAAATATATTTTATATTGTTATTTTATTTTAAAATAATCCTTTGGGAATATAATGCACAACCAAAAGATTTTAGTATCCATTTTTTCTTGGCATTGAAGCTTCACTGAATTTATGATTAATTCAAAATTTAAAAACATCAATGGAATCAACTCAATGGGACCACTTCTAAAAGTTGCAGCTTTTTCTGGGAAGAAAGCAGAGGACGTACCAATGAGCTTATCGTAGTCTATGCCTTTTGCACTGCTTGTCTGTACTGTCCATGGGTCCACAAAATCCTCTTCAGCTTCTGTGGCATCTGGGCCATGATTACTGGTAGGTGCTGGGTTCCCTGGAGGACAGTCAGCCTTGTAATCCTCCCCCGCGGCAGCTTTGTAGCTCATTTTTAATGACACCAACATCTTTACTGCAGAATCAATTTCATCCTGAGAGAGGAAATAAAAGGGATGGCTAAAAGTATTACTAATAGCTGATATGTGCTGAATGCCTATTCTGTGGCAGGCACTGTGTTAAATGCTTTTACACGTGTTACCTTAGTTAGTGTCACAACCCTACAAGGCAGGTATTGTTGTCACTGTCCTTTTCCAGCTCAAGAATCTGAGACTCAGAGAGGTAGAGGAGCTTACCCATAGAATCACAGCAAGTCATTGGCTCGAAAACACTTCATTTTTATCTGTTATTCTAGTGCTACCATGAACACTTTGGGACAGTAGCAGTGACACAATATACACTGTCATTTATGACAAAGTTCATATGCTAAAGATTTCTCAAACACCACTGATGCCAGAGAACGTGTGTGACAAGCTCCTTTAATTGAGATTCCTGGAGTTCTGCATTGGAACTAGTTTTTACATACCACACAGGTTGAGATGAATATTTACGTTAACTTAACCAATGATGCCACTAAGGATAGTAAGAGCAACTAAAACAGATAAAAGCAAGGACAAAAAATGTAGGCTCTCAGGTTATAAATTAAGGAGGGATTCACTGGGAAATAGTTACATCATCACATTTTGGAGTCTTATCAAACTATCTTGAAAAAAAAAAAACAAAGGTAAAATGTACCCTTGGGTAGTCTGGAAATGTATTAAAGACTCTTTTGCAGGAGTCCATA
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TATACAAAAATTAACTCAAAAAGGATCAGAAACTGAAATGTAAGAGCTAAAACCACAAAACTCTGAGAAGAAACCATAGGTGTAAATCTTCACAACCTTCGATTAGTCAGTGGTTTCTCAGATATGACACCAAAAACACAATCAATCAAAGATAAAATAAACTGGACTTCATCAAAATTAAAAACTTTCATACTTCAAAGGACTATCAGTAGAGTGAAGAGACAACCTATATAATGGGAGCAAATATTTGCAAGTAATATTTGAATAAGAAACTAGTATCCAGAATATAGAAAGAACTATTATAACTAACAATAAAAAGACAACCCAATTAAAAAGTAGGCAAAGGATCTGAATAGACATTTCTCTAAAGATATAAAAATTGTTAATAAGCACATGAAAAGATTCTCAACATCCTTGTCATTAGGGAAATACAATCAAAACCACAATGAAATACTACTTCACACCTATTAGGATGGCTATAAAACACAACAACATGGAAAATAACAAGAGTGGGTGAAGATGTGGAGAAATGGGAAGCTTCCTATGTTGCTGGTGGGAAAGTAAAATGATACAGTTGCTGTAGAAAAGTCTGTCAGTTCCTCAAAGAGTTAAACATGGAATTACTATATAAGCCATTAATTCTATTTCGAGGTATATGCCCAAGAGAATTGAAAACATATATCCACCCAAAAACTTGTATACAAATGGTCAGAGCAGCATTGTTGATAACCAAAAAGTGAAAATAACTCAAACGTCCATCAACTAATGAATGAATAAACAAAATGTGAGGTATATCCATTCAATGGAATATTATTTGGCAATAAAAAGGAATCCAGTATGGATACATGCTACAACATGGAGGAACCTTGAAAATGTTATGCCAAGTAAAAGAAGCCAGACACAAAAGGCCACATGTTACATGATCCCATTTATATAAAATGCCTAAATCTAGATATAGAGAAAGCAGACTAATGGTTGCCAGTGGGGAGGGAGAAATGGGGGATGACTGTTAACCCATTTATGCCTACCTACTGTTCCAAAATTGGAATGCTAAACTTGTGGGAGTTATTGATATCTTACTGCTCAAGGTGATTGCCAAGGTCTGATTTTTCACAAAAAATTTTTACAACTTCTGGCATAAATGGGTTAATGGGTAGAAGTTTCCTTTTGGGGTGATGAAATGTTTTGGAATTAGATAGTCTTGATGGTCTCACAACCTTGTGAATATACTAAAACCCACTTAACTGTACATTTAAAAAAATAAGTTTTATAGTATGTGAATTAAGGAAAATTTTTTATTATATTCCACCCAGAAAGTGGGTTGAGCAAGGCCTGGAGTTCTTTGCAGGTAGAATTTGAAGTGTTTGGGCAGACTGCTGGGCTCTGTCCTGGGGTTGTTCTCCTGTAAGCGTGAAGTGCCAGTAGAACAGAACAACCCTACATCAGATCATAAATTCCATGGACACAGCTTCAAAAAGGGGGCTGCCTCAGCCCAGATAACTGTAGGTTGGGAGAGGCAGAAACTCTTTTGGAACCTGCCCATATCTTGACGTTATCTGCGTGGAATTTACGGCCTAAGGTACAGATAATCTGTTCCATGCATTCTCTGTTGGTTTGTCTGTTGGTATTGTTTATGAGCAAGTCAATACAATAGGAGGAAGAGGGTTTGGAATTTCAGGAAGCCTACTGTTTGTCATGTGGGAAATGCTGATCTTGGACATATTATTCTCTTTTGTTTTCATGACATTTTATAATTTCTTTACAGCCTGTAATCTGGGAAGAATCTCACCTGCTATTAATATGATTCCCACCTTGTGAGGTGGGCAGTCTACAAATGAAAAAACTAAGAGCCTGAGGGTGATGGACAAGCATGATCCCACAGTGGGTTACTGACAGGACAGAGGATGGATCTCAGTCTTACCACAGCTGGCCATCACTTTTCCCACAGTACCAGGTGGCTTATGAAGAGAGTGTCTTACGATTTTTTTGAACTAAAAGAAGAGGACAGGTGAGAAGGCCTGTGGTGAAGAGCCCCTGACCTGTGTGAGTAGAAGATGCCTCTGCGCAGGAAGTGGTGTGGTCTTTGGCCGGTGGCTCTCTCTATTCGGTTTATTAGCTCTTTGTCAATTTTACTACTTCCAAACCGAACTGGAAAAAAAGAAAAGATGACTTTCTTAGGTGGCAGGAGGTTTAGTGATCAGATATTACTGAAATGAAGATGAAAAGTGAGTGATCCATGCACAATCTTAATGAACACAAACCTCTTTAGGCCTTCTGCTAAAGGTCCTTACCCCCAACATGAAGTAAAAGGTCTTTGGATTAAAACAACAGCTGAGATCAACACAACCAACAAAACAGGAAATAAATTACAACACAAAATGCTGTTTTGCCTGAGACTGGGTTCTGATGGGAAACATATTCAGAATGCAGTCCAGCTAGCAACTTTTGACAACAAAATATAAACATATACATATATAAATAGGTATATATATATATATTTGTTTATTAAGGTAAAATTTATATTCATTGACAACCATGATTTCTCACATTCTTTATTTGTTGAACTGAATTAATGTCGGTCTTCAAGTGAATTTTCCCTCATTGATAGTCTATACTGAAATCATGGAAAATGGCTTTGACTTAGATGAAAACATTTCAGTTCTGTTTCTTCTCTGATAATTAGCAATGATCTCAGAGTAAAGACTTCAATGGAATGGCAACAGTCTTTCCTGAGCAGGAAGGCCCTCAAGGAAGGGCATGACAGTAAGAACTTGCCCGATGTGAGAAGTCACTGCTCTTAAGCTGACTTCCAGCCTTCTAGGTCCATAGTCAGTATCACTGGAGGTGAAACCTAAGTAATCTATGATTGACTTGTAGCCACTAAATGTTATAAATGGCCATTTCAATAGACCTTTCCCAAGTTCTGAAGTGCTCAAAAAAAGGGAAAACCTTCTATTAAGCTGTCTACTATAGATCATTATTTTGAAATATATTTTATATTGTTATTTTATTTTAAAATAATCCTTTGGGAATATAATGCACAACCAAAAGATTTTAGTATCCATTTTTTCTTGGCATTGAAGCTTCACTGAATTTATGATTAATTCAAAATTTAAAAACATCAATGGAATCAACTCAATGGGACCACTTCTAAAAGTTGCAGCTTTTTCTGGGAAGAAAGCAGAGGACGTACCAATGAGCTTATCGTAGTCTATGCCTTTTGCACTGCTTGTCTGTACTGTCCATGGGTCCACAAAATCCTCTTCAGCTTCTGTGGCATCTGGGCCATGATTACTGGTAGGTGCTGGGTTCCCTGGAGGACAGTCAGCCTTGTAATCCTCCCCCGCGGCAGCTTTGTAGCTCATTTTTAATGACACCAACATCTTTACTGCAGAATCAATTTCATCCTGAGAGAGGAAATAAAAGGGATGGCTAAAAGTATTACTAATAGCTGATATGTGCTGAATGCCTATTCTGTGGCAGGCACTGTGTTAAATGCTTTTACACGTGTTACCTTAGTTAGTGTCACAACCCTACAAGGCAGGTATTGTTGTCACTGTCCTTTTCCAGCTCAAGAATCTGAGACTCAGAGAGGTAGAGGAGCTTACCCATAGAATCACAGCAAGTCATTGGCTCGAAAACACTTCATTTTTATCTGTTATTCTAGTGCTACCATGAACACTTTGGGACAGTAGCAGTGACACAATATACACTGTCATTTATGACAAAGTTCATATGCTAAAGATTTCTCAAACACCACTGATGCCAGAGAACGTGTGTGACAAGCTCCTTTAATTGAGATTCCTGGAGTTCTGCATTGGAACTAGTTTTTACATACCACACAGGTTGAGATGAATATTTACGTTAACTTAACCAATGATGCCACTAAGGATAGTAAGAGCAACTAAAACAGATAAAAGCAAGGACAAAAAATGTAGGCTCTCAGGTTATAAATTAAGGAGGGATTCACTGGGAAATAGTTACATCATCACATTTTGGAGTCTTATCAAACTATCTTGAAAAAAAAAAAACAAAGGTAAAATGTACCCTTGGGTAGTCTGGAAATGTATTAAAGACTCTTTTGCAGGAGTCCATA
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Task1_train_20325
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Consider this mutation in WARS1 (tryptophanyl-tRNA synthetase 1) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
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CTCCTGGAAGTTAAAAATGATAGCAGAAATGGAAAACAATAGGAGGGTTAGAAAATCAGAGAAACAGTCTCTGAATTAAAAAAAAAAGTCTGTGAAGAGAGAAAACAGAAGAGATCAAAGAAATCATGATTTCTGAGAATTAACGGCCATGAGTTTCTAGTCTAAAAGGCAGGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGATCAGCCTGGCTAATATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGGCGGATGCCTGTAATCCCAGCTACTTGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCGGTGAGTCGAGATTGTGCCACCACACTCCAGCCTGGGTGAAAGAGTGAGATTCCATCTCGGGGGGCGGGGGTGGGGTGGCAAAAAAAAAAAAAAAAAAAAAAAGAAAGGCATACTGAACCTGCATCCCATGAAATTTCAGAACACGGGAACAAAGAAGATCCTGCTAACTTCCAAAAAGAAAAAACAAAGGAATGGCAACTGACTTCTCTGCAGCAAGCCCAGAAGCTAGGTGCCAATAGAGCAGTGGCTTCAGCATTTCCAGGGGAAATCACTTCCATGCTAGAACCCTACACCCAGCCTGGCTATCAATCATGTTTTAGGTAAAATAAATACGCTTTCAGATGGGCAAGATCCCCCTAGAAATATTTCCTTTGCAATATTTTTTTCAGAAACAATTGGAAGATTTGCTCTGCCCAAAGAGTAAAGCAAAGAGGAATAAAGATGCAGGAGCAGGAAACGGGGCACCCAATCGACAGGGGTGAAAGAACCCCTTGGGTCGACAGTGAAGAAAGACGCCAAGATGGGCAGTGTAGGAAGCAAGAGCCCCCACTTCAGAGGGAAGCAGGCAGAAGGTTTTGGGAGAGATCGCCTCAAGAAGATGAACTTGATAGACTAGTTGATGTGTGTTGAAAGGAGATTCACTGGACAGGGAAAGGGCTTGGAGATACATTATCATTAGTATCATTGACATAAAAAAGTCAAGCAAACAGATATTAAGACAAATATTAACTCCAGAGAAAACAAAAGCTGGGCGAGAAAGTTAGAGTACTCATTCTATCCGTGATGGTTCAGCTGTCCACGTCTATTTCCATGGTCATAATAATGTCAGTGTACAGATACTGACCTAACTACAACTGCAATACAGATGGGGAGACTGCCTGGACGGGAAGTGGTTGTGAAGGTACGAATGCTTCATTTCCACCTGAAAGACCCCAACTTGAAAATCAACAAGGAACAATATGATAAGCAGAATATTTACAGATATGGGGAGTACATAACCAAAAGATCGGCTAAAAGAATTGAGCAGGAAATAGGGAGAGGTGGGCTGGAGGGCCACTGTATTTCACAAAGGCTTTGAGAACCCCTGACTCTTTAGACCACAGGCATCCCAATGTTGATAAAGGAAAAATACATTTAAAACTATAACCAAGGCTGGCGTGGTGGCTCATGCTGGTAATCCCAGCACTTTGGGAGGCCAAGGTGGACAGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACGTGGTGAAACCCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCTTAGATTGCACCATTGCACTCCAGCCTGGGAAACAAGAGTGAAATTCCCTCTCAAAAAATAAAAAATTATAACCAAAACACCTCAGTCATTGAGGAAACCATCTATTCTAGAGGAACACAACCCTACAGACTTGGGAGGCTCAGCTGCCTTCGTGGAGAACCCAGCAAAATCATGTACCTTTGACGCATTTCCCGCTTTGAGGGACCTTACGAGCTCCCCTTGTGTGGCGATGCTGTTGAACAGCTCCAGCAGAGATGCGGGCTCACTGTTGGGCATGTTTGCTATCTCTCAGGAACTACGTTCACAGCCGGCCTGAGGTCAGAGGATTTGTTCAGCAGACGAGTCAAGACTGGGGTGGGGGCGGGGAAGGAGAGAGAGGAAAAACCAGAGGTTAACACAACATCGCGGCTGTTTTTCCTTTCCTGTATTGAGTCCTTTTTTCCGAAAAGGTTGTGAGGTGAGTTACAGTAAAGGACATAGATAATATAATAAAAAGAGAACCAGAAATTTGGGGCCATGAAGAAGAGGAAAACCATCAAATGCCAGTGATGAAGACTAAAGGAGTGGCTAGGATTTACTGACTTAAGGTGTGAATCTACTTGACTAGGAGGGGCCCTCCTAGTCAAGATCAAGTTTGCATCTGGTGATGCCCCTGTGCCCCCACCCAGTGCCCAGAACACAGGAGGACTCCTGTTTGCTCAGGGTATAAATACCAATGTGTTTTAATGAACTTAAGTTCATTGCTAAAAACTTTTGGCAAATTACTATTTGATTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGCCACCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCGATTCTTCTGTCTCAGCCTCCTGAGGCTGCCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGGGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCCTCTCACTTCAGCCTCCCGAAAGTGTTGGGATTATAGGTGTGAGCCAAGGCACCCATCCTCTATTTGTGGTTTATCTTAATTGCCTTGGGGATGAATTCTTGGGCTTTTGCAGCCATAACTAATATATCGCTGAGCAAATGTCTTCCACTGCTGGTCAGCTGCTCTCAGACAAAGTGAGCTCTGGGGTGGAGGACAGGGCCTTACCTGTCCTAGGTTCCACATGAGGTAAGGACTGTCTCCAGTCTGTCCATTCCACGTGCTGCCTTATTTAACTACAAGCCTTTGCAGAAGGTGTGTCTGCACCTCCTATTAGTCATGATTCATTATAACCCTTGCAGGAAGTGGGGACATGGCAGACAGAGACTGTATCGCCATCAAACCTTTCTTGGCTCAATCACTTCCTAAGAGTCAAGTTTCCTAACCTATAAAATGGCGCCACCAGGAACTTCATCTACCCCAGGCTCTTATGAGAACAAAATGAGAAAAAAAAGGCATGGTAGCACTTTGTAAACTGTAAAGCAAGATGTAACTACGTTACGAGTGCTGTTATTAAATTTCTTGTGTTTCTTAGGATTCCAAAGATTGGCTGAACTCCAGCTTCATTTTAACTTGCTGTAAAACCTTGGAGAAGGAAAATGACAAGGCTAGTGCCTGAGCTGCTAACTTTGAACACCTCTGTACCTGTTATTGTTCTAAGCACCGTATATGTATCAATTCACTTAAGCCTTGCAGCAGTCCTATGAAATAGATTTGTAATCTCCATTTTATAGATGAGGCACAGAGGGGTTAAAAAAAACTTGCCCATGGCTGGGCATGGTGGCTCATACCTGCAACCCTGGCACTTTGGGCAGTATAGTGAGACTCTACAAAAAAATGAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGGGCCTGTAATCCCAGCTACTTGGGAGGCTATAGCAGGAAGATCACTTGAGCCCAGGAGTTCGAGGCTTCAGTGAGCTACGTTTGCGCCACTGTACTCCAGCCCGGGTGACAGAGTAAGACCCTGTCTCTAAAAATAAAAATAAAATAAAATAAAACTTGCCCATGTTAACATCACAAGGAAATGGCAGAGATGCGTTATAGACTCTAGTAGTTTGACTCTAGAGCCTACACTTTCAACCATTATCTTACAAATGACTTATCTTTATGAACCAAACATATACATTTGTGGTGTCATTTATTTTACTCTATCCTATCCATTTGTTAAATATTTGCTTTAAAAGTACGTAAATTGGCTGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTG
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CTCCTGGAAGTTAAAAATGATAGCAGAAATGGAAAACAATAGGAGGGTTAGAAAATCAGAGAAACAGTCTCTGAATTAAAAAAAAAAGTCTGTGAAGAGAGAAAACAGAAGAGATCAAAGAAATCATGATTTCTGAGAATTAACGGCCATGAGTTTCTAGTCTAAAAGGCAGGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGATCAGCCTGGCTAATATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGGCGGATGCCTGTAATCCCAGCTACTTGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCGGTGAGTCGAGATTGTGCCACCACACTCCAGCCTGGGTGAAAGAGTGAGATTCCATCTCGGGGGGCGGGGGTGGGGTGGCAAAAAAAAAAAAAAAAAAAAAAAGAAAGGCATACTGAACCTGCATCCCATGAAATTTCAGAACACGGGAACAAAGAAGATCCTGCTAACTTCCAAAAAGAAAAAACAAAGGAATGGCAACTGACTTCTCTGCAGCAAGCCCAGAAGCTAGGTGCCAATAGAGCAGTGGCTTCAGCATTTCCAGGGGAAATCACTTCCATGCTAGAACCCTACACCCAGCCTGGCTATCAATCATGTTTTAGGTAAAATAAATACGCTTTCAGATGGGCAAGATCCCCCTAGAAATATTTCCTTTGCAATATTTTTTTCAGAAACAATTGGAAGATTTGCTCTGCCCAAAGAGTAAAGCAAAGAGGAATAAAGATGCAGGAGCAGGAAACGGGGCACCCAATCGACAGGGGTGAAAGAACCCCTTGGGTCGACAGTGAAGAAAGACGCCAAGATGGGCAGTGTAGGAAGCAAGAGCCCCCACTTCAGAGGGAAGCAGGCAGAAGGTTTTGGGAGAGATCGCCTCAAGAAGATGAACTTGATAGACTAGTTGATGTGTGTTGAAAGGAGATTCACTGGACAGGGAAAGGGCTTGGAGATACATTATCATTAGTATCATTGACATAAAAAAGTCAAGCAAACAGATATTAAGACAAATATTAACTCCAGAGAAAACAAAAGCTGGGCGAGAAAGTTAGAGTACTCATTCTATCCGTGATGGTTCAGCTGTCCACGTCTATTTCCATGGTCATAATAATGTCAGTGTACAGATACTGACCTAACTACAACTGCAATACAGATGGGGAGACTGCCTGGACGGGAAGTGGTTGTGAAGGTACGAATGCTTCATTTCCACCTGAAAGACCCCAACTTGAAAATCAACAAGGAACAATATGATAAGCAGAATATTTACAGATATGGGGAGTACATAACCAAAAGATCGGCTAAAAGAATTGAGCAGGAAATAGGGAGAGGTGGGCTGGAGGGCCACTGTATTTCACAAAGGCTTTGAGAACCCCTGACTCTTTAGACCACAGGCATCCCAATGTTGATAAAGGAAAAATACATTTAAAACTATAACCAAGGCTGGCGTGGTGGCTCATGCTGGTAATCCCAGCACTTTGGGAGGCCAAGGTGGACAGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACGTGGTGAAACCCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCTTAGATTGCACCATTGCACTCCAGCCTGGGAAACAAGAGTGAAATTCCCTCTCAAAAAATAAAAAATTATAACCAAAACACCTCAGTCATTGAGGAAACCATCTATTCTAGAGGAACACAACCCTACAGACTTGGGAGGCTCAGCTGCCTTCGTGGAGAACCCAGCAAAATCATGTACCTTTGACGCATTTCCCGCTTTGAGGGACCTTACGAGCTCCCCTTGTGTGGCGATGCTGTTGAACAGCTCCAGCAGAGATGCGGGCTCACTGTTGGGCACGTTTGCTATCTCTCAGGAACTACGTTCACAGCCGGCCTGAGGTCAGAGGATTTGTTCAGCAGACGAGTCAAGACTGGGGTGGGGGCGGGGAAGGAGAGAGAGGAAAAACCAGAGGTTAACACAACATCGCGGCTGTTTTTCCTTTCCTGTATTGAGTCCTTTTTTCCGAAAAGGTTGTGAGGTGAGTTACAGTAAAGGACATAGATAATATAATAAAAAGAGAACCAGAAATTTGGGGCCATGAAGAAGAGGAAAACCATCAAATGCCAGTGATGAAGACTAAAGGAGTGGCTAGGATTTACTGACTTAAGGTGTGAATCTACTTGACTAGGAGGGGCCCTCCTAGTCAAGATCAAGTTTGCATCTGGTGATGCCCCTGTGCCCCCACCCAGTGCCCAGAACACAGGAGGACTCCTGTTTGCTCAGGGTATAAATACCAATGTGTTTTAATGAACTTAAGTTCATTGCTAAAAACTTTTGGCAAATTACTATTTGATTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGCCACCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCGATTCTTCTGTCTCAGCCTCCTGAGGCTGCCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGGGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCCTCTCACTTCAGCCTCCCGAAAGTGTTGGGATTATAGGTGTGAGCCAAGGCACCCATCCTCTATTTGTGGTTTATCTTAATTGCCTTGGGGATGAATTCTTGGGCTTTTGCAGCCATAACTAATATATCGCTGAGCAAATGTCTTCCACTGCTGGTCAGCTGCTCTCAGACAAAGTGAGCTCTGGGGTGGAGGACAGGGCCTTACCTGTCCTAGGTTCCACATGAGGTAAGGACTGTCTCCAGTCTGTCCATTCCACGTGCTGCCTTATTTAACTACAAGCCTTTGCAGAAGGTGTGTCTGCACCTCCTATTAGTCATGATTCATTATAACCCTTGCAGGAAGTGGGGACATGGCAGACAGAGACTGTATCGCCATCAAACCTTTCTTGGCTCAATCACTTCCTAAGAGTCAAGTTTCCTAACCTATAAAATGGCGCCACCAGGAACTTCATCTACCCCAGGCTCTTATGAGAACAAAATGAGAAAAAAAAGGCATGGTAGCACTTTGTAAACTGTAAAGCAAGATGTAACTACGTTACGAGTGCTGTTATTAAATTTCTTGTGTTTCTTAGGATTCCAAAGATTGGCTGAACTCCAGCTTCATTTTAACTTGCTGTAAAACCTTGGAGAAGGAAAATGACAAGGCTAGTGCCTGAGCTGCTAACTTTGAACACCTCTGTACCTGTTATTGTTCTAAGCACCGTATATGTATCAATTCACTTAAGCCTTGCAGCAGTCCTATGAAATAGATTTGTAATCTCCATTTTATAGATGAGGCACAGAGGGGTTAAAAAAAACTTGCCCATGGCTGGGCATGGTGGCTCATACCTGCAACCCTGGCACTTTGGGCAGTATAGTGAGACTCTACAAAAAAATGAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGGGCCTGTAATCCCAGCTACTTGGGAGGCTATAGCAGGAAGATCACTTGAGCCCAGGAGTTCGAGGCTTCAGTGAGCTACGTTTGCGCCACTGTACTCCAGCCCGGGTGACAGAGTAAGACCCTGTCTCTAAAAATAAAAATAAAATAAAATAAAACTTGCCCATGTTAACATCACAAGGAAATGGCAGAGATGCGTTATAGACTCTAGTAGTTTGACTCTAGAGCCTACACTTTCAACCATTATCTTACAAATGACTTATCTTTATGAACCAAACATATACATTTGTGGTGTCATTTATTTTACTCTATCCTATCCATTTGTTAAATATTTGCTTTAAAAGTACGTAAATTGGCTGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTG
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Task1_train_20326
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A variant was discovered in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Spinal muscular atrophy
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CGGCCTAATTTTTGTATCTTTAGTAGAGATGTGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGGGATCTACTCACCTTAGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCATGCCTGGCGTATGAAGTATTGTGTATAAAGTACTGGCAAGGGAATTAGAAAATTCAAATTTTATTAATTACCTTGAAGGCATTAATTTAACCAACTTTGAGTGCCTGTTGTGTGCAAGGTGTGGCAGTAGGTATATAGAGTAGTACACAAAGAAATAAAACCTGCTTCCTGTTCCCAAGAAGCTTGTCTTTGGGAGAAAGATTGGCAGATACATAACTAATTGTAATACTTGTCAAAATACAATGGAAACATGAAGACTGGAGAGATTGCTTCTGATTAGGGGAAGCCCACAGAAGAGGTCACACTGGAATTGAGTTATGAGGGTTAGAATTTCAGCAGATCAATATAGATTTCTTAAGCAAAGGCACAAAGCACGTGATGTGTTTAGGGAATGGGACATCTGGTCTAAGTGGTGTCTCAGGGTGGGAAAGAGGATACATAGCAGGAGGTGAAACAGGAAAAGCTGAGTAGGACCAGACTAAGGGGAGCCTGGAATGGCCTCTTATCACCTTAACCAGTGAGCAACTTTTGTTTACTTAGTACAGTAAATAAATGTTACACATTAGTGTAAGATCAGATTTAAGTACTACTTATATTTCTAGGGCAGGTTAGTTTTAGGCCAATATTACGAATTCAACCCATGTATGAGACAAGTTAACTTTGCCTGGTTTCATGTTTGTTCACATTCTGTAACCATAACCTTGATTCAGTAGCTCTCATGTACTAAAGAAAGACAAGCAGTGCATTTCACTATTAGAAAAGCAACACTTCAGTATATTCTTGTATGATTTTTAAATTAATAAGCCTAATTAGGAGTGTAACTTTTCTAATTTCTTGTTTTATTTTTCTTTTTAGCTTGGCATTCATTAAACGTACTCCCGTGATTGATGCAGATAAACCCGTGTCTTCTCAGCTCCGGGTCCTTACACTCAGTGAAGACTCGCCCTACGAAACTTTGCATTCTTTCATTAGCAATGCAGTGGCTCCTTTTTTTAAGTCCTACATTAGAGAGTCTGGCAAGGCAGACAGGTAAAAACTGTGGTTTGAATGTTATATTTCACTTAATGTTCACAAGATAGTATAGAACTCGGTGTAAAACTTGGGAATTGGGAGGGTAACGCTAGTGAGCCGAGGGGATATAAACCCTGTGTATTAATAAATATGTGTGTCATTACTATTTGACAGACCTGAAATGATGGGATCTCTTTGGAGACCAATAGCACACTAAATGTTGAGGTATGAAATCTGTTTTTAGGGATGGTGATAAAATGGCTCCTTCAGTTGAAAAGAAGATTGCAGAACTCGAAATGGGACTCCTTCACTTGCAGCAAAATATTGAAATTCCGGAGATCAGCCTGCCGATTCATCCAATGATCACAAATGTTGCAAAACAGTGTTATGAGCGTGGAGAAAAGCCAAAAGTTACAGACTTTGGTGATAAGGTTGAAGACCCAACATTTCTTAATCAGTTACAATCTGGAGTTAACCGCTGGATCCGAGAAATTCAAAAAGTAAGAGCACAGGATTGAAAGTTATGTAAAATATGTTACTCTTTAATATCTTTGGGAAAACTGATCTGGATTTTGTAAGTGAGGTAAATTATGTGATAACTTGTTAGTGGTGCCGCCTCTTGGTCCTGGGACTGTCCAGTGCAGGACTAGCCTTGGTCTGGGTGGAATGGTCAGGGGACAGTGTGAGATTGCTTGAGTAGTCACCCTGATAGAGCATTAATCTCAGCAGTCGTATACCTTTGATTTCAAATCAAGCCACTTTTGATTTACAGGGAAGGAAATCTACTTGAAATATAAAAATTGAGTTGTAATGCATGTGTTTTGTTAACGATATCTATTCTACCTTGTTTAAATAGTGAATACCCTTGGGTGTTATTTTATTTTCAAAGGTGACCAAACTGGATCGAGATCCTGCATCAGGAACTGCCTTACAGGAAATTAGTTTTTGGCTAAACTTGGAACGTGCGTTATACCGCATCCAGGAGAAACGGGAGAGCCCGGAAGTTCTCCTGACTCTGGATATCTTGAAACATGGCAAGCGCTTCCATGCCACCGTCAGTTTTGACACTGACACAGGTAACAACTAGAACTAATAATCTGATCAGTAAGTTATTGATCTGGCTTTTACGAGATCTTACTTGATAATTTAAATGAAAACTATAGTTTTCACAGATGTACTGTCGTTTTTAACCATTTCCTTTCTTACATCACATCTTATCTTTCCCTCAGTTCCAAGTAATGAAAATTATTCTCCTACACACTTAGCTTTCCCCTTTCCCTTCAGGGGATTTAAGAACATGAAACAGTCTCTAGGTATGAGCACAGATTCCTTCTTGTTTCCCCACTGCTGGGCTCCATGAGTCATCTCCACGAGTCGGCTGTACAATTGGCACAAAGTCAGGTATGCTTTTGACAGGCCAGGCAAGAAGGTGGTTTAAGTGAAGCAGTTCTATTTGCCCAGAGGGTTGTGGAAAAAGAACTGGTCAGTACCACTTTCTCTTCCTCTTTTTACTTGCCCCTTTCTCTTCTTTGTCTTCCTCCCTATTCTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGTACCACCATGTCCAACTAATTTTTGAATTTTTGTAGAAATGGGGACTTGCCACGTTGCCCATGCTGGTATCAAACTCCTAGTCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCTACCACTCACAGTCATTATTACAATTATTTTTAAATTCTTTTAAAAACTTTGTAACTTGACTGAGCTGCATTAGCACGTACTAGGTCTACAATGTTTGAACACGAGGCATTATTAGGCATTTCTGTTCAACTCTGTGCTCACAAAAGACATGTTAGAACAAGTAATTAAGACAATAGCAGTTGTCATGTTCTCACTTCCCCCAAAAAACGTATGGTACCCACATCTTAAATGTTAGAGAAAATTGTAAGTAGAAACCTTCCGGTTACTTAGATCACATTGCACACATTACATGCGCATTCACTATGCTGAAATGTATACTTTGATTTTTTTAACACCTCTGAAACTTTTGTTTTTTTCCTAATACTTTTTTTGATCTTATGCCAAAGAAAGTCAATAAATAGATTAGGATCCAAGCACTTTCGTGATTCCATGTCCTTAGTTAGTAATATGTTCACCTAAATTAAGCCATGAATGTAAAACTTAAATTTTAATGTTTTCAAGGATAAAATTTTAGTTCTTCTAAACTTAATTGTTACTAATAAACGTTAAAATAATATAGAACAGGGGTCCCCAACCCCCAGACTGGTACTGGTCCGCGGCCTGTTGGGAACCAGGCTGTGCAGAAGGAGGCCAGCAGCGGCGAGTGAGCATTACTGCCTGAGCTCTGCCCCCGTCACATGAGTGGCGGCATTAGATTCTCATAGGGGCGCAAACCCTGTTGTGAACTGCGCACGCGAGGGATGTAGATTGTGCACTCCTTATGAGAATCTAATGCCTGATGATCTGTCCACCATCTCCCATTACATCACCCTCAGATGGGACCTCCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACAGATTCTACATTATGGTGAGTATGTAATAATAATAATAGAAATAGGCTGGGTGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTGTTTG
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CGGCCTAATTTTTGTATCTTTAGTAGAGATGTGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGGGATCTACTCACCTTAGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCATGCCTGGCGTATGAAGTATTGTGTATAAAGTACTGGCAAGGGAATTAGAAAATTCAAATTTTATTAATTACCTTGAAGGCATTAATTTAACCAACTTTGAGTGCCTGTTGTGTGCAAGGTGTGGCAGTAGGTATATAGAGTAGTACACAAAGAAATAAAACCTGCTTCCTGTTCCCAAGAAGCTTGTCTTTGGGAGAAAGATTGGCAGATACATAACTAATTGTAATACTTGTCAAAATACAATGGAAACATGAAGACTGGAGAGATTGCTTCTGATTAGGGGAAGCCCACAGAAGAGGTCACACTGGAATTGAGTTATGAGGGTTAGAATTTCAGCAGATCAATATAGATTTCTTAAGCAAAGGCACAAAGCACGTGATGTGTTTAGGGAATGGGACATCTGGTCTAAGTGGTGTCTCAGGGTGGGAAAGAGGATACATAGCAGGAGGTGAAACAGGAAAAGCTGAGTAGGACCAGACTAAGGGGAGCCTGGAATGGCCTCTTATCACCTTAACCAGTGAGCAACTTTTGTTTACTTAGTACAGTAAATAAATGTTACACATTAGTGTAAGATCAGATTTAAGTACTACTTATATTTCTAGGGCAGGTTAGTTTTAGGCCAATATTACGAATTCAACCCATGTATGAGACAAGTTAACTTTGCCTGGTTTCATGTTTGTTCACATTCTGTAACCATAACCTTGATTCAGTAGCTCTCATGTACTAAAGAAAGACAAGCAGTGCATTTCACTATTAGAAAAGCAACACTTCAGTATATTCTTGTATGATTTTTAAATTAATAAGCCTAATTAGGAGTGTAACTTTTCTAATTTCTTGTTTTATTTTTCTTTTTAGCTTGGCATTCATTAAACGTACTCCCGTGATTGATGCAGATAAACCCGTGTCTTCTCAGCTCCGGGTCCTTACACTCAGTGAAGACTCGCCCTACGAAACTTTGCATTCTTTCATTAGCAATGCAGTGGCTCCTTTTTTTAAGTCCTACATTAGAGAGTCTGGCAAGGCAGACAGGTAAAAACTGTGGTTTGAATGTTATATTTCACTTAATGTTCACAAGATAGTATAGAACTCGGTGTAAAACTTGGGAATTGGGAGGGTAACGCTAGTGAGCCGAGGGGATATAAACCCTGTGTATTAATAAATATGTGTGTCATTACTATTTGACAGACCTGAAATGATGGGATCTCTTTGGAGACCAATAGCACACTAAATGTTGAGGTATGAAATCTGTTTTTAGGGATGGTGATAAAATGGCTCCTTCAGTTGAAAAGAAGATTGCAGAACTCGAAATGGGACTCCTTCACTTGCAGCAAAATATTGAAATTCCGGAGATCAGCCTGCCGATTCATCCAATGATCACAAATGTTGCAAAACAGTGTTATGAGCGTGGAGAAAAGCCAAAAGTTACAGACTTTGGTGATAAGGTTGAAGACCCAACATTTCTTAATCAGTTACAATCTGGAGTTAACCGCTGGATCCGAGAAATTCAAAAAGTAAGAGCACAGGATTGAAAGTTATGTAAAATATGTTACTCTTTAATATCTTTGGGAAAACTGATCTGGATTTTGTAAGTGAGGTAAATTATGTGATAACTTGTTAGTGGTGCCGCCTCTTGGTCCTGGGACTGTCCAGTGCAGGACTAGCCTTGGTCTGGGTGGAATGGTCAGGGGACAGTGTGAGATTGCTTGAGTAGTCACCCTGATAGAGCATTAATCTCAGCAGTCGTATACCTTTGATTTCAAATCAAGCCACTTTTGATTTACAGGGAAGGAAATCTACTTGAAATATAAAAATTGAGTTGTAATGCATGTGTTTTGTTAACGATATCTATTCTACCTTGTTTAAATAGTGAATACCCTTGGGTGTTATTTTATTTTCAAAGGTGACCAAACTGGATCTAGATCCTGCATCAGGAACTGCCTTACAGGAAATTAGTTTTTGGCTAAACTTGGAACGTGCGTTATACCGCATCCAGGAGAAACGGGAGAGCCCGGAAGTTCTCCTGACTCTGGATATCTTGAAACATGGCAAGCGCTTCCATGCCACCGTCAGTTTTGACACTGACACAGGTAACAACTAGAACTAATAATCTGATCAGTAAGTTATTGATCTGGCTTTTACGAGATCTTACTTGATAATTTAAATGAAAACTATAGTTTTCACAGATGTACTGTCGTTTTTAACCATTTCCTTTCTTACATCACATCTTATCTTTCCCTCAGTTCCAAGTAATGAAAATTATTCTCCTACACACTTAGCTTTCCCCTTTCCCTTCAGGGGATTTAAGAACATGAAACAGTCTCTAGGTATGAGCACAGATTCCTTCTTGTTTCCCCACTGCTGGGCTCCATGAGTCATCTCCACGAGTCGGCTGTACAATTGGCACAAAGTCAGGTATGCTTTTGACAGGCCAGGCAAGAAGGTGGTTTAAGTGAAGCAGTTCTATTTGCCCAGAGGGTTGTGGAAAAAGAACTGGTCAGTACCACTTTCTCTTCCTCTTTTTACTTGCCCCTTTCTCTTCTTTGTCTTCCTCCCTATTCTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGTACCACCATGTCCAACTAATTTTTGAATTTTTGTAGAAATGGGGACTTGCCACGTTGCCCATGCTGGTATCAAACTCCTAGTCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCTACCACTCACAGTCATTATTACAATTATTTTTAAATTCTTTTAAAAACTTTGTAACTTGACTGAGCTGCATTAGCACGTACTAGGTCTACAATGTTTGAACACGAGGCATTATTAGGCATTTCTGTTCAACTCTGTGCTCACAAAAGACATGTTAGAACAAGTAATTAAGACAATAGCAGTTGTCATGTTCTCACTTCCCCCAAAAAACGTATGGTACCCACATCTTAAATGTTAGAGAAAATTGTAAGTAGAAACCTTCCGGTTACTTAGATCACATTGCACACATTACATGCGCATTCACTATGCTGAAATGTATACTTTGATTTTTTTAACACCTCTGAAACTTTTGTTTTTTTCCTAATACTTTTTTTGATCTTATGCCAAAGAAAGTCAATAAATAGATTAGGATCCAAGCACTTTCGTGATTCCATGTCCTTAGTTAGTAATATGTTCACCTAAATTAAGCCATGAATGTAAAACTTAAATTTTAATGTTTTCAAGGATAAAATTTTAGTTCTTCTAAACTTAATTGTTACTAATAAACGTTAAAATAATATAGAACAGGGGTCCCCAACCCCCAGACTGGTACTGGTCCGCGGCCTGTTGGGAACCAGGCTGTGCAGAAGGAGGCCAGCAGCGGCGAGTGAGCATTACTGCCTGAGCTCTGCCCCCGTCACATGAGTGGCGGCATTAGATTCTCATAGGGGCGCAAACCCTGTTGTGAACTGCGCACGCGAGGGATGTAGATTGTGCACTCCTTATGAGAATCTAATGCCTGATGATCTGTCCACCATCTCCCATTACATCACCCTCAGATGGGACCTCCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACAGATTCTACATTATGGTGAGTATGTAATAATAATAATAGAAATAGGCTGGGTGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTGTTTG
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Task1_train_20327
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Given a variant located on Chromosome 14 and affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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CTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGTACCACCATGTCCAACTAATTTTTGAATTTTTGTAGAAATGGGGACTTGCCACGTTGCCCATGCTGGTATCAAACTCCTAGTCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCTACCACTCACAGTCATTATTACAATTATTTTTAAATTCTTTTAAAAACTTTGTAACTTGACTGAGCTGCATTAGCACGTACTAGGTCTACAATGTTTGAACACGAGGCATTATTAGGCATTTCTGTTCAACTCTGTGCTCACAAAAGACATGTTAGAACAAGTAATTAAGACAATAGCAGTTGTCATGTTCTCACTTCCCCCAAAAAACGTATGGTACCCACATCTTAAATGTTAGAGAAAATTGTAAGTAGAAACCTTCCGGTTACTTAGATCACATTGCACACATTACATGCGCATTCACTATGCTGAAATGTATACTTTGATTTTTTTAACACCTCTGAAACTTTTGTTTTTTTCCTAATACTTTTTTTGATCTTATGCCAAAGAAAGTCAATAAATAGATTAGGATCCAAGCACTTTCGTGATTCCATGTCCTTAGTTAGTAATATGTTCACCTAAATTAAGCCATGAATGTAAAACTTAAATTTTAATGTTTTCAAGGATAAAATTTTAGTTCTTCTAAACTTAATTGTTACTAATAAACGTTAAAATAATATAGAACAGGGGTCCCCAACCCCCAGACTGGTACTGGTCCGCGGCCTGTTGGGAACCAGGCTGTGCAGAAGGAGGCCAGCAGCGGCGAGTGAGCATTACTGCCTGAGCTCTGCCCCCGTCACATGAGTGGCGGCATTAGATTCTCATAGGGGCGCAAACCCTGTTGTGAACTGCGCACGCGAGGGATGTAGATTGTGCACTCCTTATGAGAATCTAATGCCTGATGATCTGTCCACCATCTCCCATTACATCACCCTCAGATGGGACCTCCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACAGATTCTACATTATGGTGAGTATGTAATAATAATAATAGAAATAGGCTGGGTGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTGTTTGTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACCCCACTGCACTCCAGCTTGGGCGACAGAGCAAAACTCCGTCTCAAAAAAATAAAATAATAGAAATAAAGTGCACAATAAATGTAATGTGCTCGAATCACCTAGAAACTACCCACCCCCCCACCACCCCCCAACCATCTGTGGAAAAATCGTCTTCCACGAAACTGGTCCCTGTTGCCAAAAATGTTGAGGGCCACTGATATAGAAAGCAAAGCAAAGCATGGTAAATTCTCTGAGGCTGCCACCTTCAGCCTTTAGAGTATGTAGGAATTGACTCATACTCTTAAATAAGCAAAAATGGAGCGCCACTAGGGTTATCCTGTTAATAACGTGTTGTTTTTTCAAATATGAATAGTTTTTGTCTCGCTAGATATTTTGCAACATCAAAATGTTCCATTGTAATGGCATATTTTAGTTTACTTAGTTTTGTTACTTTATGTGAAAACCATTAACTCTTTCTCTGTTAATATAGGTCTAAAACAGGCTTTGGAAACTGTGAATGACTACAATCCTCTGATGAAAGATTTCCCTCTGAATGATTTGCTGTCTGCCACGGAGCTGGACAAAATAAGACAGGCGCTTGTTGCCATTTTCACACATTTGAGAAAGATCCGAAACACAAAATATCCTATTCAGAGGGCACTGCGTTTGGTGGAGGCAATTTCAAGAGACTTGAGTTCTCAATTACTCAAAGTATTGGGCACTAGGAAATTGATGCATGTTGCTTATGAAGAATTTGAAAAAGTAAGTTTGAATATATAAGACAACCAACCTCAAGACATTGAGATGAAAATATGTCTTAATAATAAGCCTCACTTTTGAAATTATATCCTAGGTTATGGTAGCATGCTTTGAAGTTTTTCAGACTTGGGATGATGAGTATGAGAAACTTCAGGTATTGTTGAGAGACATCGTCAAAAGAAAAAGGGAAGAAAATCTGAAGATGGTGTGGCGTATCAACCCTGCCCACAGGAAGCTGCAGGCCCGCCTTGACCAGATGAGAAAATTTAGACGCCAGCATGAACAGCTAAGAGCTGTTATCGTCAGGGTCCTGAGGCCACAGGTAAGATTTGCATTCTAAAAGTTTGTGTTTTGTTTTTGTTTTTGTTTTGTTTTTTGTTTGGTGTTTTTTTTTTGTTGTTGTTGTTGAGATGAAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTGTTTATATTTTGAGTAGAGACAGGCTTTTACCATGTTGGCCAGGCTGGTTTTGAACTGGCCTTCAAGTGTTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGG
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CTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGTACCACCATGTCCAACTAATTTTTGAATTTTTGTAGAAATGGGGACTTGCCACGTTGCCCATGCTGGTATCAAACTCCTAGTCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCTACCACTCACAGTCATTATTACAATTATTTTTAAATTCTTTTAAAAACTTTGTAACTTGACTGAGCTGCATTAGCACGTACTAGGTCTACAATGTTTGAACACGAGGCATTATTAGGCATTTCTGTTCAACTCTGTGCTCACAAAAGACATGTTAGAACAAGTAATTAAGACAATAGCAGTTGTCATGTTCTCACTTCCCCCAAAAAACGTATGGTACCCACATCTTAAATGTTAGAGAAAATTGTAAGTAGAAACCTTCCGGTTACTTAGATCACATTGCACACATTACATGCGCATTCACTATGCTGAAATGTATACTTTGATTTTTTTAACACCTCTGAAACTTTTGTTTTTTTCCTAATACTTTTTTTGATCTTATGCCAAAGAAAGTCAATAAATAGATTAGGATCCAAGCACTTTCGTGATTCCATGTCCTTAGTTAGTAATATGTTCACCTAAATTAAGCCATGAATGTAAAACTTAAATTTTAATGTTTTCAAGGATAAAATTTTAGTTCTTCTAAACTTAATTGTTACTAATAAACGTTAAAATAATATAGAACAGGGGTCCCCAACCCCCAGACTGGTACTGGTCCGCGGCCTGTTGGGAACCAGGCTGTGCAGAAGGAGGCCAGCAGCGGCGAGTGAGCATTACTGCCTGAGCTCTGCCCCCGTCACATGAGTGGCGGCATTAGATTCTCATAGGGGCGCAAACCCTGTTGTGAACTGCGCACGCGAGGGATGTAGATTGTGCACTCCTTATGAGAATCTAATGCCTGATGATCTGTCCACCATCTCCCATTACATCACCCTCAGATGGGACCTCCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACAGATTCTACATTATGGTGAGTATGTAATAATAATAATAGAAATAGGCTGGGTGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTGTTTGTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACCCCACTGCACTCCAGCTTGGGCGACAGAGCAAAACTCCGTCTCAAAAAAATAAAATAATAGAAATAAAGTGCACAATAAATGTAATGTGCTCGAATCACCTAGAAACTACCCACCCCCCCACCACCCCCCAACCATCTGTGGAAAAATCGTCTTCCACGAAACTGGTCCCTGTTGCCAAAAATGTTGAGGGCCACTGATATAGAAAGCAAAGCAAAGCATGGTAAATTCTCTGAGGCTGCCACCTTCAGCCTTTAGAGTATGTAGGAATTGACTCATACTCTTAAATAAGCAAAAATGGAGCGCCACTAGGGTTATCCTGTTAATAACGTGTTGTTTTTTCAAATATGAATAGTTTTTGTCTCGCTAGATATTTTGCAACATCAAAATGTTCCATTGTAATGGCATATTTTAGTTTACTTAGTTTTGTTACTTTATGTGAAAACCATTAACTCTTTCTCTGTTAATATAGGTCTAAAACAGGCTTTGGAAACTGTGAATGACTACAATCCTCTGATGAAACATTTCCCTCTGAATGATTTGCTGTCTGCCACGGAGCTGGACAAAATAAGACAGGCGCTTGTTGCCATTTTCACACATTTGAGAAAGATCCGAAACACAAAATATCCTATTCAGAGGGCACTGCGTTTGGTGGAGGCAATTTCAAGAGACTTGAGTTCTCAATTACTCAAAGTATTGGGCACTAGGAAATTGATGCATGTTGCTTATGAAGAATTTGAAAAAGTAAGTTTGAATATATAAGACAACCAACCTCAAGACATTGAGATGAAAATATGTCTTAATAATAAGCCTCACTTTTGAAATTATATCCTAGGTTATGGTAGCATGCTTTGAAGTTTTTCAGACTTGGGATGATGAGTATGAGAAACTTCAGGTATTGTTGAGAGACATCGTCAAAAGAAAAAGGGAAGAAAATCTGAAGATGGTGTGGCGTATCAACCCTGCCCACAGGAAGCTGCAGGCCCGCCTTGACCAGATGAGAAAATTTAGACGCCAGCATGAACAGCTAAGAGCTGTTATCGTCAGGGTCCTGAGGCCACAGGTAAGATTTGCATTCTAAAAGTTTGTGTTTTGTTTTTGTTTTTGTTTTGTTTTTTGTTTGGTGTTTTTTTTTTGTTGTTGTTGTTGAGATGAAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTGTTTATATTTTGAGTAGAGACAGGCTTTTACCATGTTGGCCAGGCTGGTTTTGAACTGGCCTTCAAGTGTTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGG
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Task1_train_20328
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Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 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 axonal type 2O
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TTTGAGTAGAGACAGGCTTTTACCATGTTGGCCAGGCTGGTTTTGAACTGGCCTTCAAGTGTTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGC
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TTTGAGTAGAGACAGGCTTTTACCATGTTGGCCAGGCTGGTTTTGAACTGGCCTTCAAGTGTTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAATGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGC
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Task1_train_20329
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Assess the clinical impact of this variant on gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGCGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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Task1_train_20330
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Mutation context: Chromosome 14, Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). 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 axonal type 2O
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGCGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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Task1_train_20331
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This variant affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 13
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGCGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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Task1_train_20332
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This genomic variant is located on Chromosome 14, within the DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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TTCCACCTGCCTCGGCCTCCCAAAGTGCCGGGATTATAGACGTGAGACAGCATGCCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGCGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGG
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Task1_train_20333
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The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGT
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CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCTTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGT
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Task1_train_20334
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This variant lies on Chromosome 14 and affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGT
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CCCAGCCTGTTTTTGTTTGAGACAGTCTCATTCTGTTACCTAGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCTTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGT
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Task1_train_20335
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A sequence alteration has been identified in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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AGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACA
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AGGCTGGAGTACAGTGAAGTGATCTTGGCTCACTGCAGCCTTCGCCTCCCGGGCTCAAGCAGTCCTCCTACCTCAGCTTCCTGAGTAGCTGGGACTATAGGCGCACCCCACCATGCCCAGCTAATTTATTTGTGTGTGTGTGTGTTGGCGGGAGGGGGCTGTAGAGGAGGGGTCTCACCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCATGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACA
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Task1_train_20336
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Given a variant located on Chromosome 14 and affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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CCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCC
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CCATGTTGCCCAGGCTATTCTCGAACTCCTGAGCTCAAATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCTGCCCGTATGCATTGTTTTAATGTGTTTTTTGAAAACTTAACTACTTCTTTCTGTTGTCTTTAAGATCTAGTGATTCTGTATTGTGTGTGTGTGTGTATATATATATGCGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATTATATTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCGAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCC
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Task1_train_20337
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A sequence alteration has been identified in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCTGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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Task1_train_20338
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The variant affects gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Intellectual disability, autosomal dominant 13
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCTGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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Task1_train_20339
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The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 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 axonal type 2O
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCTGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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Task1_train_20340
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Consider this mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCTGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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Task1_train_20341
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The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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GAGTGCAGTGGCATGATCTCAGGTCACTGCAACCTCTGCCTCTGGGGTTCAAGCAATTCTGCCTCAGCCTCCGAGTAGCCGGAATTACAGGCGCCAGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAAATAGGGATTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGGATCACGAGGTCAGAAGATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGTGCTGGGATTACCATGCCCAGCCCATCCAAATCTTTAGTGTTTTCCATCCATTTATCCCTTCCTCCATCTTGGAAGGACCCTAGAGCCAGACTTCCTGGGTTTTAAATCCTAATTCCATCGTTTACTAGCTCTGTGACTGGAATGCTTTATTTAGTCTCTTTTTCAGAGAGTCCTTCTCTGTAAAACATGGATAGTAATTACATATGCCTGAGATTTATAAAACAATTAAATGACTAATTTCTTTATATATATTTTTTTCTCTTCTGAATTTATCTTTCATTCTTCTTTTTTGTTTTTTGAGATGGAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAACTTCCCAAGTAGCTGGGAATACAGGCATGCACCACCATGCCTGGCAAATTGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCTTAAAATAAATTTTAAAGCCTTCGTTTGGTCAGCATTTCTTGATTACATATCTTTCTCCTTTAGGTCACGGCAGTTGCACAACAGAATCAAGGAGAGGTCCCTGAACCCCAAGATATGAAAGTGGCTGAGGTTCTCTTTGATGCTGCAGATGCAAATGCCATTGAGGAAGTAAACCTTGCTTATGAGAACGTCAAGGAAGTGGATGGACTGGATGTTTCCAAAGAGGGCACGGAAGCCTGGGAGGCTGCTATGAAGAGGTACGATGAGAGGATCGACAGAGTGGAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGCTGATCCAGCGCGTGAAAGATGACATTGAGTCTCTTCACGACAAGTTCAAGGTCCAGTACCCACAGAGTCAGGCTTGTAAGATGAGTCACGTTCGTGACTTGCCCCCTGTGTCAGGGTCTATCATCTGGGCTAAACAGATCGACAGGCAGCTGACGGCCTACATGAAGCGGGTGGAAGATGTCCTTGGCAAGGGCTGGGAGAATCACGTGGAGGGGCAGAAGCTGAAGCAGGATGGAGACAGCTTCCGCATGAAGCTCAACACGCAGGAGATCTTTGATGACTGGGCAAGGAAGGTGCAGCAGCGCAACCTCGGTGTCTCGGGGCGCATTTTCACCATCGAAAGTACTCGGGTTCGGGGCCGAACTGGAAATGTGCTTAAGCTGAAAGTTAACTTTCTTCCTGAGATTATCACACTATCCAAAGAAGTCCGGAACCTCAAATGGCTTGGTTTCCGCGTCCCACTGGCGATTGTGAACAAAGCCCATCAAGCAAACCAGCTTTACCTGTTTGCCATCTCACTGATCGAGAGCGTTCGTACCTATGAACGGACCTGCGAGAAGGTGGAGGAGCGGAACACCATTTCCCTTTTGGTGGCTGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAACAACCTGAGTTTAGAAACAGGTGGAGAGCTAAAGGACACAGGAGTCCAACAGAGAGCAGAATGCAGTTTTATTGCTGCTACAGCTGAAAGCAGAGCAGGCTCTAGGTCTCAGCCACGAAGGCCTTACCCAGAGCCTGCGGCTGCCAGCGGACCAGATGCATACGACAGCGAGGCTGGCTCCCCAGGCACAGGAGGAGCTTAACAGAGCACGTTTACTTCCTTCTCCCAGATTTACCCATCAGAGGCCACCTCTCCCATTGAGTGGGAGTAAGGGAAGAGAAGCTGGGGAGGCTCCATGCATTTTCCTTTCCTCTGCAAGGACATGCGAGTGGGGATTAGTGTTCTCACCCCAGCAGCTAGGATTAGCTACTTATGGAAGAACTGTGCCTGGAGCATTTGTCAATGTATAATATTTGAGAAGAATGTTATGTGAGAATAAAGGAACAGAGTGTGAGTGGGTGTTTTAAATATTAAATATTTCTTCCTTCAGGTGGATGATCTGCTGATCATTGAAGAAAAAATAGACCTAGAAGTCCGTTCCTTGGAAACTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGGATGACTTAAATCTGCACTCCTATTCCAATTTGCCCATCTGGGTCAACAAGCTTGACATGGAGGTAAGGGATAGAATTTGCTAGCATTTTCCTCCTTTTTCTTCTGCTGACCCTCCAGTAAGCTTATTAGTTTGTCACTAAAAAGCATTTTTCCTTGGAAATTATCTGTGATAGTTCAATTCCCCTCCAAAATCTCATTTAACTAGTGATAGAACTGAATTGTGGCCAGGCACAGTGGCTCATCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGGCAGGCAGATCGCTTGAGCCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACTATAAATACAAAAACTAGCCAGGTGTGCTGATGAGCACCTGTAGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAATGAGCCAACATCGCACCACTGCACTCTAGCAGAGTGAGACCCTGTCACACACACACACACAAAAAGAACCAAATTATGATACTACATGTCAGTACTCACATCAAGTTTAAGTTGGAAGCAGGGAGATAAGAGGGAGGAGAAAGTGTTGCCTTTATTTGCTGGATATTTGATAACTTCCTATTTGTCCTTCCTTGCTTTCCTTATGATTCGTGTTACCTTTTCTAGCCCTCCAGGTGTCCTCCTCTGATGACCCTGCCACTCCCCAACACCCAATTTAGAAACAGCCACATTCTGCCCCCACCCGTATCCCCGTAGACAAGTGGGGATGGGTAGAAGGTGTGGTATGTGTGCATAAAGCACACTTACCAATCCACGCCTTTTCCCACTGGTGGACTTCAGAGAGCACACCAGTGGAGAGTGTTGGGGAGGAGGATATTTTATAGCAGAGGTTACAGGTTGTGAAGGATTGGTGATTCAGTATCCAAAGATGGAGAAGACAGCCTAACAAGTGATCTGTGGCTGGGAGAAAGTGAGAAAGTGAGATTCTGAGAAGAGAGATATGAAGGCTTCTAGTCCGGA
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Task1_train_20342
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This sequence variant lies in DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063) on Chromosome 14. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TGGTGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAATGACATTTCAGTCAACGACAAGACCACATATACAATTGTGGTCCCGACGATTACAATACCATATTTTTACTGTACCTTTTCTATGCCGACATATGTTTAAATACACAAATACTTACCATTGTGTTCCAGTTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGATTTGTAGCCTGGGAGCAATCGGCCATGCCACATAGCCTAGGTGGGCAGCGGGCTGTCATCTAGACTTGTGTAGGTACATGCTGTGGAGTTTGCACAGTGATAGAATCGCCTCACCGTGATTCTCAGAACGTATCCCTGTTGTTAAGCAACACATGACTATCTAGTGGAGACGAAGTTGGAATTCTTGTTGAGTGTAAAGCACTGGCAGGTGGCACAGACTTACCTGACCTTGGTCAACCTAAATCATTGCCTGACAACTGATAACCTGAGTGGTATCACTGCTTCAGTGGTGCTAGTTTCTCGGGTCTCAAGGTCGTTATATTGAGACATCGTCATATACTTAGGCCAAACCAGATGAAAGTTCATTGAGTACCTGTTGTGTGTTCAATCCCTGGGCACCAGGGACCCAGGAGAAGGTGAAGCAGCACCTGCTGTCTGACTTATGTTCTTTTGGGGAAGGCACAAATGACAAACATGACATTATACAAGACCATGTCTGATAATCAAGTGACAGACATTGTAGTTCAGACTGAAGTAGTTTAGTAATTTAGAGAGAGAAAGTGTTGAGTATCAAAACTATTTTATTGAGGCCAGACGCAGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTTGAGCTCTGAAGTTTGAGACCAGCCTGGGCAACATGACGAAACCCCATCTCTATAAAAAGTACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATAGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGATACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACTCGGGAGGTGGAGATTGCAGTGAGCGGAGATGGCATCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAATTAACTGGGCATGATGGTGCACGCCTGTGGTCCCGGCTACTTGAGGGGCTGAGGCGGGAGGATTGCCTGAGCCCAGAATGTCAAGTGAGCCATGTCGCCATCGCACTCCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAACAAAAAGCAAAGGACTTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGACCAACATGCTGAAACCCGTCTCTACTAAAAATATATAATTAGCTGGGCTTGCTGGCGCATGCCCGTAATCCCAGCTACTTGGGAGGCTTAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGGTTGTGCCATTACACTGCAGCCTGGGCAGTAAGAGTGAAACTCTGTCTTAAAAAAATTTTTTTTATTGAAAAATAGATTGCTGAGTAGAAATGAAACCTTTCTTTCACAGAATGTCGTTCATGAGCTAAGAATAACCAATCAGGTAATCTACTTGAATCCACCAATTGAAGAGTGCAGATACAAGCTGTATCAGGAAATGTTTGCCTGGAAGATGGTTGTACTGTCTCTCCCCAGGATCCAGAGTCAGAGGTACCAGGTAAGCCTTTGGTGACTCGAGGCACACGCCTCTGACCAGGACTCTCATGGGCTCTGTGATACCACTTCTTCATGGTGCTTCTTTAGATAAGCTCTTGATGTTGTTTACAAACTCCAGACATCCCAGGGGAAAGTTAGGGAGGCTTTTTGTGCCCTGACCTTTTTTTCCAACTAGTTACTTGGCATTTGTAGCTTGGTCTCAGTAGTTTCTTCGAACTCCTGTCCATGAGCATCTTTGGGAATCTCAATTCCTGCTTCTCCCTCTCCTCCCCACCCCCCACTTTTTATTAGGGGAATTTTAAAACATACACAAAAGTTGAGGGAATCAAGAGCCCCCCACCACACAGCTTTATCAATATGTGGACAATGTTATTTATATTTTCTTTCCTACCTCTCCACCCCCACCAGATTATCTTGAAGCAAATCTCAGATATAATATACTCTTAGTATATTTTTAGAACAAAAGGAAATCTCAAAAGACCATTTAGTCCCCAGTGTCACTTCTGAACAGAACCAGTGGCTTCATAAAAAAAGATGGCACAACTTCTGCTATTGCAGACTCTTCCAGAATTTAGTGATAAGACATTAACCGTTTTCTTAACTTTGAATATAAACTCAGATCTTTAAGGATTTTTTTTGAGGTAGTTAATTGCCTATGGCTAAAATCGTGGTGATGTTTCACCTAATGCTGGGCACTGTCCAGCTAATCAGAACCAAGCTATGGATATTGGCTTCTGCCCTTCAAGGAGTCTACGTACAATCCTTAGCATCATTCTCATCATGTTACTCCTGTTTTTAACCAGCCGTGTTTCTATTTGCATTGTTCTCTTGCTTATCTCCAAATTTAACAAACTAAAGCCAGCAGTCTCCTTTTTCCCTAGAGCCCATCCCCTCACTCTCGTTTAGCTGTTCTGCCCTCTCTTCTGGGTCTTCTTTCAGCACCTAAACGGGACCCCATGTCCCCTGCAATCTTCATAAGGAAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGA
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TGGTGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAATGACATTTCAGTCAACGACAAGACCACATATACAATTGTGGTCCCGACGATTACAATACCATATTTTTACTGTACCTTTTCTATGCCGACATATGTTTAAATACACAAATACTTACCATTGTGTTCCAGTTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGATTTGTAGCCTGGGAGCAATCGGCCATGCCACATAGCCTAGGTGGGCAGCGGGCTGTCATCTAGACTTGTGTAGGTACATGCTGTGGAGTTTGCACAGTGATAGAATCGCCTCACCGTGATTCTCAGAACGTATCCCTGTTGTTAAGCAACACATGACTATCTAGTGGAGACGAAGTTGGAATTCTTGTTGAGTGTAAAGCACTGGCAGGTGGCACAGACTTACCTGACCTTGGTCAACCTAAATCATTGCCTGACAACTGATAACCTGAGTGGTATCACTGCTTCAGTGGTGCTAGTTTCTCGGGTCTCAAGGTCGTTATATTGAGACATCGTCATATACTTAGGCCAAACCAGATGAAAGTTCATTGAGTACCTGTTGTGTGTTCAATCCCTGGGCACCAGGGACCCAGGAGAAGGTGAAGCAGCACCTGCTGTCTGACTTATGTTCTTTTGGGGAAGGCACAAATGACAAACATGACATTATACAAGACCATGTCTGATAATCAAGTGACAGACATTGTAGTTCAGACTGAAGTAGTTTAGTAATTTAGAGAGAGAAAGTGTTGAGTATCAAAACTATTTTATTGAGGCCAGACGCAGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTTGAGCTCTGAAGTTTGAGACCAGCCTGGGCAACATGACGAAACCCCATCTCTATAAAAAGTACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATAGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGATACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACTCGGGAGGTGGAGATTGCAGTGAGCGGAGATGGCATCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAATTAACTGGGCATGATGGTGCACGCCTGTGGTCCCGGCTACTTGAGGGGCTGAGGCGGGAGGATTGCCTGAGCCCAGAATGTCAAGTGAGCCATGTCGCCATCGCACTCCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAACAAAAAGCAAAGGACTTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGACCAACATGCTGAAACCCGTCTCTACTAAAAATATATAATTAGCTGGGCTTGCTGGCGCATGCCCGTAATCCCAGCTACTTGGGAGGCTTAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGGTTGTGCCATTACACTGCAGCCTGGGCAGTAAGAGTGAAACTCTGTCTTAAAAAAATTTTTTTTATTGAAAAATAGATTGCTGAGTAGAAATGAAACCTTTCTTTCACAGAATGTCGTTCATGAGCTAAGAATAACCAATCAGGTAACCTACTTGAATCCACCAATTGAAGAGTGCAGATACAAGCTGTATCAGGAAATGTTTGCCTGGAAGATGGTTGTACTGTCTCTCCCCAGGATCCAGAGTCAGAGGTACCAGGTAAGCCTTTGGTGACTCGAGGCACACGCCTCTGACCAGGACTCTCATGGGCTCTGTGATACCACTTCTTCATGGTGCTTCTTTAGATAAGCTCTTGATGTTGTTTACAAACTCCAGACATCCCAGGGGAAAGTTAGGGAGGCTTTTTGTGCCCTGACCTTTTTTTCCAACTAGTTACTTGGCATTTGTAGCTTGGTCTCAGTAGTTTCTTCGAACTCCTGTCCATGAGCATCTTTGGGAATCTCAATTCCTGCTTCTCCCTCTCCTCCCCACCCCCCACTTTTTATTAGGGGAATTTTAAAACATACACAAAAGTTGAGGGAATCAAGAGCCCCCCACCACACAGCTTTATCAATATGTGGACAATGTTATTTATATTTTCTTTCCTACCTCTCCACCCCCACCAGATTATCTTGAAGCAAATCTCAGATATAATATACTCTTAGTATATTTTTAGAACAAAAGGAAATCTCAAAAGACCATTTAGTCCCCAGTGTCACTTCTGAACAGAACCAGTGGCTTCATAAAAAAAGATGGCACAACTTCTGCTATTGCAGACTCTTCCAGAATTTAGTGATAAGACATTAACCGTTTTCTTAACTTTGAATATAAACTCAGATCTTTAAGGATTTTTTTTGAGGTAGTTAATTGCCTATGGCTAAAATCGTGGTGATGTTTCACCTAATGCTGGGCACTGTCCAGCTAATCAGAACCAAGCTATGGATATTGGCTTCTGCCCTTCAAGGAGTCTACGTACAATCCTTAGCATCATTCTCATCATGTTACTCCTGTTTTTAACCAGCCGTGTTTCTATTTGCATTGTTCTCTTGCTTATCTCCAAATTTAACAAACTAAAGCCAGCAGTCTCCTTTTTCCCTAGAGCCCATCCCCTCACTCTCGTTTAGCTGTTCTGCCCTCTCTTCTGGGTCTTCTTTCAGCACCTAAACGGGACCCCATGTCCCCTGCAATCTTCATAAGGAAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGA
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Task1_train_20343
|
Here is a genetic alteration in DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAATGACATTTCAGTCAACGACAAGACCACATATACAATTGTGGTCCCGACGATTACAATACCATATTTTTACTGTACCTTTTCTATGCCGACATATGTTTAAATACACAAATACTTACCATTGTGTTCCAGTTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGATTTGTAGCCTGGGAGCAATCGGCCATGCCACATAGCCTAGGTGGGCAGCGGGCTGTCATCTAGACTTGTGTAGGTACATGCTGTGGAGTTTGCACAGTGATAGAATCGCCTCACCGTGATTCTCAGAACGTATCCCTGTTGTTAAGCAACACATGACTATCTAGTGGAGACGAAGTTGGAATTCTTGTTGAGTGTAAAGCACTGGCAGGTGGCACAGACTTACCTGACCTTGGTCAACCTAAATCATTGCCTGACAACTGATAACCTGAGTGGTATCACTGCTTCAGTGGTGCTAGTTTCTCGGGTCTCAAGGTCGTTATATTGAGACATCGTCATATACTTAGGCCAAACCAGATGAAAGTTCATTGAGTACCTGTTGTGTGTTCAATCCCTGGGCACCAGGGACCCAGGAGAAGGTGAAGCAGCACCTGCTGTCTGACTTATGTTCTTTTGGGGAAGGCACAAATGACAAACATGACATTATACAAGACCATGTCTGATAATCAAGTGACAGACATTGTAGTTCAGACTGAAGTAGTTTAGTAATTTAGAGAGAGAAAGTGTTGAGTATCAAAACTATTTTATTGAGGCCAGACGCAGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTTGAGCTCTGAAGTTTGAGACCAGCCTGGGCAACATGACGAAACCCCATCTCTATAAAAAGTACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATAGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGATACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACTCGGGAGGTGGAGATTGCAGTGAGCGGAGATGGCATCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAATTAACTGGGCATGATGGTGCACGCCTGTGGTCCCGGCTACTTGAGGGGCTGAGGCGGGAGGATTGCCTGAGCCCAGAATGTCAAGTGAGCCATGTCGCCATCGCACTCCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAACAAAAAGCAAAGGACTTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGACCAACATGCTGAAACCCGTCTCTACTAAAAATATATAATTAGCTGGGCTTGCTGGCGCATGCCCGTAATCCCAGCTACTTGGGAGGCTTAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGGTTGTGCCATTACACTGCAGCCTGGGCAGTAAGAGTGAAACTCTGTCTTAAAAAAATTTTTTTTATTGAAAAATAGATTGCTGAGTAGAAATGAAACCTTTCTTTCACAGAATGTCGTTCATGAGCTAAGAATAACCAATCAGGTAATCTACTTGAATCCACCAATTGAAGAGTGCAGATACAAGCTGTATCAGGAAATGTTTGCCTGGAAGATGGTTGTACTGTCTCTCCCCAGGATCCAGAGTCAGAGGTACCAGGTAAGCCTTTGGTGACTCGAGGCACACGCCTCTGACCAGGACTCTCATGGGCTCTGTGATACCACTTCTTCATGGTGCTTCTTTAGATAAGCTCTTGATGTTGTTTACAAACTCCAGACATCCCAGGGGAAAGTTAGGGAGGCTTTTTGTGCCCTGACCTTTTTTTCCAACTAGTTACTTGGCATTTGTAGCTTGGTCTCAGTAGTTTCTTCGAACTCCTGTCCATGAGCATCTTTGGGAATCTCAATTCCTGCTTCTCCCTCTCCTCCCCACCCCCCACTTTTTATTAGGGGAATTTTAAAACATACACAAAAGTTGAGGGAATCAAGAGCCCCCCACCACACAGCTTTATCAATATGTGGACAATGTTATTTATATTTTCTTTCCTACCTCTCCACCCCCACCAGATTATCTTGAAGCAAATCTCAGATATAATATACTCTTAGTATATTTTTAGAACAAAAGGAAATCTCAAAAGACCATTTAGTCCCCAGTGTCACTTCTGAACAGAACCAGTGGCTTCATAAAAAAAGATGGCACAACTTCTGCTATTGCAGACTCTTCCAGAATTTAGTGATAAGACATTAACCGTTTTCTTAACTTTGAATATAAACTCAGATCTTTAAGGATTTTTTTTGAGGTAGTTAATTGCCTATGGCTAAAATCGTGGTGATGTTTCACCTAATGCTGGGCACTGTCCAGCTAATCAGAACCAAGCTATGGATATTGGCTTCTGCCCTTCAAGGAGTCTACGTACAATCCTTAGCATCATTCTCATCATGTTACTCCTGTTTTTAACCAGCCGTGTTTCTATTTGCATTGTTCTCTTGCTTATCTCCAAATTTAACAAACTAAAGCCAGCAGTCTCCTTTTTCCCTAGAGCCCATCCCCTCACTCTCGTTTAGCTGTTCTGCCCTCTCTTCTGGGTCTTCTTTCAGCACCTAAACGGGACCCCATGTCCCCTGCAATCTTCATAAGGAAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATC
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TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAATGACATTTCAGTCAACGACAAGACCACATATACAATTGTGGTCCCGACGATTACAATACCATATTTTTACTGTACCTTTTCTATGCCGACATATGTTTAAATACACAAATACTTACCATTGTGTTCCAGTTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGATTTGTAGCCTGGGAGCAATCGGCCATGCCACATAGCCTAGGTGGGCAGCGGGCTGTCATCTAGACTTGTGTAGGTACATGCTGTGGAGTTTGCACAGTGATAGAATCGCCTCACCGTGATTCTCAGAACGTATCCCTGTTGTTAAGCAACACATGACTATCTAGTGGAGACGAAGTTGGAATTCTTGTTGAGTGTAAAGCACTGGCAGGTGGCACAGACTTACCTGACCTTGGTCAACCTAAATCATTGCCTGACAACTGATAACCTGAGTGGTATCACTGCTTCAGTGGTGCTAGTTTCTCGGGTCTCAAGGTCGTTATATTGAGACATCGTCATATACTTAGGCCAAACCAGATGAAAGTTCATTGAGTACCTGTTGTGTGTTCAATCCCTGGGCACCAGGGACCCAGGAGAAGGTGAAGCAGCACCTGCTGTCTGACTTATGTTCTTTTGGGGAAGGCACAAATGACAAACATGACATTATACAAGACCATGTCTGATAATCAAGTGACAGACATTGTAGTTCAGACTGAAGTAGTTTAGTAATTTAGAGAGAGAAAGTGTTGAGTATCAAAACTATTTTATTGAGGCCAGACGCAGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTTGAGCTCTGAAGTTTGAGACCAGCCTGGGCAACATGACGAAACCCCATCTCTATAAAAAGTACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATAGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGATACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACTCGGGAGGTGGAGATTGCAGTGAGCGGAGATGGCATCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAATTAACTGGGCATGATGGTGCACGCCTGTGGTCCCGGCTACTTGAGGGGCTGAGGCGGGAGGATTGCCTGAGCCCAGAATGTCAAGTGAGCCATGTCGCCATCGCACTCCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAACAAAAAGCAAAGGACTTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGACCAACATGCTGAAACCCGTCTCTACTAAAAATATATAATTAGCTGGGCTTGCTGGCGCATGCCCGTAATCCCAGCTACTTGGGAGGCTTAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGGTTGTGCCATTACACTGCAGCCTGGGCAGTAAGAGTGAAACTCTGTCTTAAAAAAATTTTTTTTATTGAAAAATAGATTGCTGAGTAGAAATGAAACCTTTCTTTCACAGAATGTCGTTCATGAGCTAAGAATAACCAATCAGGTAATCTGCTTGAATCCACCAATTGAAGAGTGCAGATACAAGCTGTATCAGGAAATGTTTGCCTGGAAGATGGTTGTACTGTCTCTCCCCAGGATCCAGAGTCAGAGGTACCAGGTAAGCCTTTGGTGACTCGAGGCACACGCCTCTGACCAGGACTCTCATGGGCTCTGTGATACCACTTCTTCATGGTGCTTCTTTAGATAAGCTCTTGATGTTGTTTACAAACTCCAGACATCCCAGGGGAAAGTTAGGGAGGCTTTTTGTGCCCTGACCTTTTTTTCCAACTAGTTACTTGGCATTTGTAGCTTGGTCTCAGTAGTTTCTTCGAACTCCTGTCCATGAGCATCTTTGGGAATCTCAATTCCTGCTTCTCCCTCTCCTCCCCACCCCCCACTTTTTATTAGGGGAATTTTAAAACATACACAAAAGTTGAGGGAATCAAGAGCCCCCCACCACACAGCTTTATCAATATGTGGACAATGTTATTTATATTTTCTTTCCTACCTCTCCACCCCCACCAGATTATCTTGAAGCAAATCTCAGATATAATATACTCTTAGTATATTTTTAGAACAAAAGGAAATCTCAAAAGACCATTTAGTCCCCAGTGTCACTTCTGAACAGAACCAGTGGCTTCATAAAAAAAGATGGCACAACTTCTGCTATTGCAGACTCTTCCAGAATTTAGTGATAAGACATTAACCGTTTTCTTAACTTTGAATATAAACTCAGATCTTTAAGGATTTTTTTTGAGGTAGTTAATTGCCTATGGCTAAAATCGTGGTGATGTTTCACCTAATGCTGGGCACTGTCCAGCTAATCAGAACCAAGCTATGGATATTGGCTTCTGCCCTTCAAGGAGTCTACGTACAATCCTTAGCATCATTCTCATCATGTTACTCCTGTTTTTAACCAGCCGTGTTTCTATTTGCATTGTTCTCTTGCTTATCTCCAAATTTAACAAACTAAAGCCAGCAGTCTCCTTTTTCCCTAGAGCCCATCCCCTCACTCTCGTTTAGCTGTTCTGCCCTCTCTTCTGGGTCTTCTTTCAGCACCTAAACGGGACCCCATGTCCCCTGCAATCTTCATAAGGAAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATC
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Task1_train_20344
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This sequence change occurs on Chromosome 14, altering DYNC1H1, LOC130056502 (dynein cytoplasmic 1 heavy chain 1| ATAC-STARR-seq lymphoblastoid active region 9063). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAATGACATTTCAGTCAACGACAAGACCACATATACAATTGTGGTCCCGACGATTACAATACCATATTTTTACTGTACCTTTTCTATGCCGACATATGTTTAAATACACAAATACTTACCATTGTGTTCCAGTTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGATTTGTAGCCTGGGAGCAATCGGCCATGCCACATAGCCTAGGTGGGCAGCGGGCTGTCATCTAGACTTGTGTAGGTACATGCTGTGGAGTTTGCACAGTGATAGAATCGCCTCACCGTGATTCTCAGAACGTATCCCTGTTGTTAAGCAACACATGACTATCTAGTGGAGACGAAGTTGGAATTCTTGTTGAGTGTAAAGCACTGGCAGGTGGCACAGACTTACCTGACCTTGGTCAACCTAAATCATTGCCTGACAACTGATAACCTGAGTGGTATCACTGCTTCAGTGGTGCTAGTTTCTCGGGTCTCAAGGTCGTTATATTGAGACATCGTCATATACTTAGGCCAAACCAGATGAAAGTTCATTGAGTACCTGTTGTGTGTTCAATCCCTGGGCACCAGGGACCCAGGAGAAGGTGAAGCAGCACCTGCTGTCTGACTTATGTTCTTTTGGGGAAGGCACAAATGACAAACATGACATTATACAAGACCATGTCTGATAATCAAGTGACAGACATTGTAGTTCAGACTGAAGTAGTTTAGTAATTTAGAGAGAGAAAGTGTTGAGTATCAAAACTATTTTATTGAGGCCAGACGCAGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTTGAGCTCTGAAGTTTGAGACCAGCCTGGGCAACATGACGAAACCCCATCTCTATAAAAAGTACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATAGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGATACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACTCGGGAGGTGGAGATTGCAGTGAGCGGAGATGGCATCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAATTAACTGGGCATGATGGTGCACGCCTGTGGTCCCGGCTACTTGAGGGGCTGAGGCGGGAGGATTGCCTGAGCCCAGAATGTCAAGTGAGCCATGTCGCCATCGCACTCCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAACAAAAAGCAAAGGACTTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGACCAACATGCTGAAACCCGTCTCTACTAAAAATATATAATTAGCTGGGCTTGCTGGCGCATGCCCGTAATCCCAGCTACTTGGGAGGCTTAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGGTTGTGCCATTACACTGCAGCCTGGGCAGTAAGAGTGAAACTCTGTCTTAAAAAAATTTTTTTTATTGAAAAATAGATTGCTGAGTAGAAATGAAACCTTTCTTTCACAGAATGTCGTTCATGAGCTAAGAATAACCAATCAGGTAATCTACTTGAATCCACCAATTGAAGAGTGCAGATACAAGCTGTATCAGGAAATGTTTGCCTGGAAGATGGTTGTACTGTCTCTCCCCAGGATCCAGAGTCAGAGGTACCAGGTAAGCCTTTGGTGACTCGAGGCACACGCCTCTGACCAGGACTCTCATGGGCTCTGTGATACCACTTCTTCATGGTGCTTCTTTAGATAAGCTCTTGATGTTGTTTACAAACTCCAGACATCCCAGGGGAAAGTTAGGGAGGCTTTTTGTGCCCTGACCTTTTTTTCCAACTAGTTACTTGGCATTTGTAGCTTGGTCTCAGTAGTTTCTTCGAACTCCTGTCCATGAGCATCTTTGGGAATCTCAATTCCTGCTTCTCCCTCTCCTCCCCACCCCCCACTTTTTATTAGGGGAATTTTAAAACATACACAAAAGTTGAGGGAATCAAGAGCCCCCCACCACACAGCTTTATCAATATGTGGACAATGTTATTTATATTTTCTTTCCTACCTCTCCACCCCCACCAGATTATCTTGAAGCAAATCTCAGATATAATATACTCTTAGTATATTTTTAGAACAAAAGGAAATCTCAAAAGACCATTTAGTCCCCAGTGTCACTTCTGAACAGAACCAGTGGCTTCATAAAAAAAGATGGCACAACTTCTGCTATTGCAGACTCTTCCAGAATTTAGTGATAAGACATTAACCGTTTTCTTAACTTTGAATATAAACTCAGATCTTTAAGGATTTTTTTTGAGGTAGTTAATTGCCTATGGCTAAAATCGTGGTGATGTTTCACCTAATGCTGGGCACTGTCCAGCTAATCAGAACCAAGCTATGGATATTGGCTTCTGCCCTTCAAGGAGTCTACGTACAATCCTTAGCATCATTCTCATCATGTTACTCCTGTTTTTAACCAGCCGTGTTTCTATTTGCATTGTTCTCTTGCTTATCTCCAAATTTAACAAACTAAAGCCAGCAGTCTCCTTTTTCCCTAGAGCCCATCCCCTCACTCTCGTTTAGCTGTTCTGCCCTCTCTTCTGGGTCTTCTTTCAGCACCTAAACGGGACCCCATGTCCCCTGCAATCTTCATAAGGAAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATC
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TGGTGGTTACAAAGGAATCCACCTTACAGTAAGTGTTTATAGTATTTGTGTTATATTTACCAATAAAAAGGACTCACAAAACAGTAAAAACCTTGATCTGGGAGAAACAGTTGGCTTTTTTCCCCTACCTACACTTTACCTTTTTATTTTTTTCCCTTACACTTGAAAAATGTTTTCACTGTTGAATATTTCTGTTTCCACCTTTGAATATTACTATTATTGGATATTCATCCCCAGAGCATACTTTTTAAAATACCAAGTCCCAGAGAAGCAAATGAGTGTTTCTAAATTGATACAATTACAGTCATGCACTGCAAAATGACATTTCAGTCAACGACAAGACCACATATACAATTGTGGTCCCGACGATTACAATACCATATTTTTACTGTACCTTTTCTATGCCGACATATGTTTAAATACACAAATACTTACCATTGTGTTCCAGTTGCCTACAGTATTCAGTACAGTAACATGCTGTACAGATTTGTAGCCTGGGAGCAATCGGCCATGCCACATAGCCTAGGTGGGCAGCGGGCTGTCATCTAGACTTGTGTAGGTACATGCTGTGGAGTTTGCACAGTGATAGAATCGCCTCACCGTGATTCTCAGAACGTATCCCTGTTGTTAAGCAACACATGACTATCTAGTGGAGACGAAGTTGGAATTCTTGTTGAGTGTAAAGCACTGGCAGGTGGCACAGACTTACCTGACCTTGGTCAACCTAAATCATTGCCTGACAACTGATAACCTGAGTGGTATCACTGCTTCAGTGGTGCTAGTTTCTCGGGTCTCAAGGTCGTTATATTGAGACATCGTCATATACTTAGGCCAAACCAGATGAAAGTTCATTGAGTACCTGTTGTGTGTTCAATCCCTGGGCACCAGGGACCCAGGAGAAGGTGAAGCAGCACCTGCTGTCTGACTTATGTTCTTTTGGGGAAGGCACAAATGACAAACATGACATTATACAAGACCATGTCTGATAATCAAGTGACAGACATTGTAGTTCAGACTGAAGTAGTTTAGTAATTTAGAGAGAGAAAGTGTTGAGTATCAAAACTATTTTATTGAGGCCAGACGCAGTGGCTTACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTTGAGCTCTGAAGTTTGAGACCAGCCTGGGCAACATGACGAAACCCCATCTCTATAAAAAGTACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATAGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGATACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACTCGGGAGGTGGAGATTGCAGTGAGCGGAGATGGCATCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAATTAACTGGGCATGATGGTGCACGCCTGTGGTCCCGGCTACTTGAGGGGCTGAGGCGGGAGGATTGCCTGAGCCCAGAATGTCAAGTGAGCCATGTCGCCATCGCACTCCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAACAAAAAGCAAAGGACTTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGACCAACATGCTGAAACCCGTCTCTACTAAAAATATATAATTAGCTGGGCTTGCTGGCGCATGCCCGTAATCCCAGCTACTTGGGAGGCTTAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGGTTGTGCCATTACACTGCAGCCTGGGCAGTAAGAGTGAAACTCTGTCTTAAAAAAATTTTTTTTATTGAAAAATAGATTGCTGAGTAGAAATGAAACCTTTCTTTCACAGAATGTCGTTCATGAGCTAAGAATAACCAATCAGGTAATCTGCTTGAATCCACCAATTGAAGAGTGCAGATACAAGCTGTATCAGGAAATGTTTGCCTGGAAGATGGTTGTACTGTCTCTCCCCAGGATCCAGAGTCAGAGGTACCAGGTAAGCCTTTGGTGACTCGAGGCACACGCCTCTGACCAGGACTCTCATGGGCTCTGTGATACCACTTCTTCATGGTGCTTCTTTAGATAAGCTCTTGATGTTGTTTACAAACTCCAGACATCCCAGGGGAAAGTTAGGGAGGCTTTTTGTGCCCTGACCTTTTTTTCCAACTAGTTACTTGGCATTTGTAGCTTGGTCTCAGTAGTTTCTTCGAACTCCTGTCCATGAGCATCTTTGGGAATCTCAATTCCTGCTTCTCCCTCTCCTCCCCACCCCCCACTTTTTATTAGGGGAATTTTAAAACATACACAAAAGTTGAGGGAATCAAGAGCCCCCCACCACACAGCTTTATCAATATGTGGACAATGTTATTTATATTTTCTTTCCTACCTCTCCACCCCCACCAGATTATCTTGAAGCAAATCTCAGATATAATATACTCTTAGTATATTTTTAGAACAAAAGGAAATCTCAAAAGACCATTTAGTCCCCAGTGTCACTTCTGAACAGAACCAGTGGCTTCATAAAAAAAGATGGCACAACTTCTGCTATTGCAGACTCTTCCAGAATTTAGTGATAAGACATTAACCGTTTTCTTAACTTTGAATATAAACTCAGATCTTTAAGGATTTTTTTTGAGGTAGTTAATTGCCTATGGCTAAAATCGTGGTGATGTTTCACCTAATGCTGGGCACTGTCCAGCTAATCAGAACCAAGCTATGGATATTGGCTTCTGCCCTTCAAGGAGTCTACGTACAATCCTTAGCATCATTCTCATCATGTTACTCCTGTTTTTAACCAGCCGTGTTTCTATTTGCATTGTTCTCTTGCTTATCTCCAAATTTAACAAACTAAAGCCAGCAGTCTCCTTTTTCCCTAGAGCCCATCCCCTCACTCTCGTTTAGCTGTTCTGCCCTCTCTTCTGGGTCTTCTTTCAGCACCTAAACGGGACCCCATGTCCCCTGCAATCTTCATAAGGAAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATC
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Task1_train_20345
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The variant affects gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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AAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGA
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AAGCTCCCTTCTCAGGCACTCATCCAGCCTCCTCCAGCACTGCTCTGTGTGATCGCCCATAGCCCCACCCTGCTGACTAGGGGGCTTCTCTGTCCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGCTATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGA
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Task1_train_20346
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Given this context: Chromosome 14, gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Inborn genetic diseases
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CCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCT
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CCTTGTCTCACCTCTTAACTGCAAGACTTGATGGAGGCTCCCTCCTGCGTGATGCTCTGGACTCTTCAGAACACCGTGCCTCCTGGTTCTCCTCCCACCTCAGTGGCTGGTCTCCTTTCTCGGTTCCTCTTTTGCCTTCCCCTTAAACTCCCTCTAAATGTTCTGTTCCCTCTCCACTCCTGTGCACTCTCATTGTGGTCTCATCTAGTCTTGTTGACTTTAAATGCCACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTCTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCT
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Task1_train_20347
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Chromosome 14 houses a mutation in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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ACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGGACTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAGAACCACTGTGTCTGGCCAGTCTTACGTGTTTTATAACTATAAAGTGCCTTCTCTTTCATGGGGCTCTAATTAATAATTTCTATCATTGTTATAGAAGAAAAAACTTGATTTATTTTTTAACTCTCAAAGCTCTACCGCAATGGCCAGCGCTTACTGGAAAAGCA
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ACCTGCAGGCTGACAGCTCTGTGTTCGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGTATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGGACTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAGAACCACTGTGTCTGGCCAGTCTTACGTGTTTTATAACTATAAAGTGCCTTCTCTTTCATGGGGCTCTAATTAATAATTTCTATCATTGTTATAGAAGAAAAAACTTGATTTATTTTTTAACTCTCAAAGCTCTACCGCAATGGCCAGCGCTTACTGGAAAAGCA
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Task1_train_20348
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Mutation context: Chromosome 14, Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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CGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGGGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGGACTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAGAACCACTGTGTCTGGCCAGTCTTACGTGTTTTATAACTATAAAGTGCCTTCTCTTTCATGGGGCTCTAATTAATAATTTCTATCATTGTTATAGAAGAAAAAACTTGATTTATTTTTTAACTCTCAAAGCTCTACCGCAATGGCCAGCGCTTACTGGAAAAGCAAAGGTTCCAGTTCCCACCTTCCTGG
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CGTATCTCCAGCTGACCTTTCTCCCTACTCCAGGCTTGTCTGGGCAGCTACTAGCATGGCATCTCCACTTGGCTATCTCGGAGTCGCGTCACACTGAGCACCTCTTGAGCCCTGCCTCCCCAAGTTTGATCTTCCCTCAGTCTTTCACTTCTCATCCTTCAGCTCATTCAGGCCAAAAATCATGGTATTGTCCTTGATTCCCATTGTGTGTCTCTTGAAAATGAATGCTGAGCTGTTTCACTGGCACCACTCCGTACAAGGTACCATCACCTCTCACTTGGATTATTAATATTCCCTCCTATCTGTTCTCTCTGCCTTTGCCTCCCTAAAATCTGTTTTCAACACAGCAGCCAAAGCAAGTTTTAGATTCTAAGTCAATCCTGACACTCTTTTCGGAGCCCTTGAATGACTTCCTATCTCACTCATCATGAAAGTCAAAGCCCCAGTGGCTTGCTGGGCCCGTGTAATGTGTTGCTTATTATTTCTCTGACTTCAGCTCCTGCTGCTTCTCCCTTCACTGGCTCTGCCCCATCACACTGGAGTCTTGCTGGTCCTCAAACATGCCGGTAGACTCTTGCCCCTGCGCCTTCACATTTGTTGATCTCAACTCAGAATCCTTGATGGCAAATAATCACAACTTACCCCTCTCCTCCTGGTTTCTCGCAATTCTCCCCTTCTCAGCAAGGCCTTTCCTGACGTCATTACTGAAAATGCAGCCTTCCCCATGCTGTGCCCACACTCCCTCTCCTTCTCACTCTTGCTCCGTAGTTCTCTCTCACCACCTGACATTCTGTGTGTTTTGCTTATTCCCTAATCGCGTCTCTCCTCCCATAGAGTGTAAGTCCCTGTGAGCAGGGATTTTTATCTGCTTGTTGTACCTAGAACAGTGCCTGGCACATAACAGGCACTCAGATAGTTAAAATGAGCAAATGGCTTCGTGCACTTTTCAGCTGTTTTTGCATTGCCAAATTTCTCTGTTGTCATTAATGTTCTTGTATTGGTTTGATGAGTTAAATATAAGTAGGCTTTCTGGTTACTTGTGGCCAGGGTAAGTGGATGTTATCCCTTAAATGCCATTTTGGTCATGAGCTTTTCTTTCAGTTCATTTTAATTAAGTAAAAGGTGACACTTAGATTACCATTTTCATATACACTGCTTGCATTCATTTCGGCTTTGGTTGGCTAGGTGGGTGTACATTACGAATTGACTGAGGAAGAGAAATTCTATCGGAATGCTTTAACACGGATGCCTGATGGCCCTGTTGCCCTGGAAGAGTCGTATTCTGCTGTCATGGGCATTGTATCTGAAGTTGAACAGTATGTCAAGGTAAGAAACTCCTAATTTCATTCAAATGTGCATATGGTCTATTCTAGACACTTAAGAGTACAAGATATAAAGAACATGGAGCTAAAAGGTCTTGACTGTATGTATGGTTCACTAGATACTATTTGCTGTTTCAAAGCAGAGAGTAAATGATAGGATACATCTTTTTGAGTTTTAACCATGACGTTCAAGAATCTTTTTTGATATGAAAATTCTGAGAGTCTGAAGTGAGAATTTCTCTAATAGTGGTGAAAGACATGAACCTTCTTAATGGAATGTGAACATAAGAGGTGCCAGTATTCTACAAAATGAAAACTCAAACTATTATTTAACTGTGTTCTTCATTTGCAGGTTTGGCTTCAGTATCAGTGTTTATGGGATATGCAAGCTGAAAACATCTATAACAGACTTGGAGAAGATCTCAACAAATGGCAGGCTCTCCTGGTCCAAATAAGGAAGGCCAGAGGAACCTTTGACAATGCAGAAACCAAGAAAGAGTTTGGACCAGTAGTTATAGATTATGGCAAGGTGAGCCCTGCTGTCTGGTTGAAAGGTGTCACGGGTAGTGTAAAAGCAACATTTCTGTTAGACTGATATTCATTTGAAGGATAAACACGCCAGCAGGAAAGAGCTGATGATGTGTTGTGTGCTATTTCACCCTCAGGTACAATCTAAGGTGAACTTGAAATATGACTCTTGGCATAAGGAGGTTCTTAGCAAATTTGAGCAGATGCTAGGATCAAACATGACGGAATTCCATTCCCAGATCTCAAAGGTGAGGACATAGGATTCTGCCTCTGTAACCGGTCTACTGGTGAACCCCAGCTCTGTGATGAAATACTCCCCTCTCTCTGAACAGTCCCGCCAAGAGTTGGAGCAGCACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGGACTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAGAACCACTGTGTCTGGCCAGTCTTACGTGTTTTATAACTATAAAGTGCCTTCTCTTTCATGGGGCTCTAATTAATAATTTCTATCATTGTTATAGAAGAAAAAACTTGATTTATTTTTTAACTCTCAAAGCTCTACCGCAATGGCCAGCGCTTACTGGAAAAGCAAAGGTTCCAGTTCCCACCTTCCTGG
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Task1_train_20349
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Assess the clinical impact of this variant on gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 13
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ACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGGACTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAGAACCACTGTGTCTGGCCAGTCTTACGTGTTTTATAACTATAAAGTGCCTTCTCTTTCATGGGGCTCTAATTAATAATTTCTATCATTGTTATAGAAGAAAAAACTTGATTTATTTTTTAACTCTCAAAGCTCTACCGCAATGGCCAGCGCTTACTGGAAAAGCAAAGGTTCCAGTTCCCACCTTCCTGGCTTTATATTGACAACATCGAGGGAGAGTGGGGAGCCTTCAATGACATCATGCGGCGAAAGGACTCTGCCATTCAGCAGCAGGTGGCAAACCTGCAAATGAAGATTGTCCAGGAGGATCGGGCCGTGGAAAGCCGCACCACCGACCTGCTGACTGACTGGGAGAAGACCAAGCCTGTCACGGTGAGTCCCGCCAGGTGGGGACGCAGGAGACTCCTCACCCAGCAGTGTGATTTGGTGACTTTCTTTCAAGCCTAAAAGGCCTTGCTGTGACTGAGCTTTCTAGTATTGAAGACTCTTTTCCTTTTTGTAGTTAAAAAAGCAGATGGAGATAGCAAATGTGAAAATATGAAGCCCAGCTTAGACCTCTTTTTACTCAGAATGGCATTCAGTAGCTGGTTTTAAGGATTAAAGTTTTTCTGTTCTTAGATCATTCTCTTACGTAGATATGCGCAGAAATTAGAGTTTAATTTCCTGTAGACAAAGGCCAAGCTTTCCACTGCTGCTGCTAGTTAATTTAATTTTGGTTGGATGGTCTCTGTTTTTGCCAGTGCTGCCAGTGGATTGTGGGGAGGCAGGTTCTGTTGTCTTCGTCATTGTAGCCATTTAAACCTTCCACCACCCAGAAACTGCCACATCCACTTTTCTTCATGCATTGAAGTATTTATTGAGCACCGACTGTGTTCCAGGCCTTGTTCTAGGTCATTGAGATATAGCAGTGAGTGAAAAGGACAAGAGCCTCCTACCTTCATGGAATCACGCTCCGTGGGAGAGAGAAAAAAAATGAGCAAGAAGAGACAGGAAAGGCAGGTGGTGGTGCTGCTGCGACAGAAGCAGATGAGAGGGCGCTGGCTCAGTGGCTACTGCTGTGCCTGGGAGGGTGGTGTGGAAGGGGGCTGGCAACTCATGCTGATAGCAGAGGTGATGTAGATAACAGTGTGTGTGGTTACTGGAAGTGGAATTCAAAATTTTATTTATTTTATTTTTTGCTCCCTTTGTTATTTTTATTTGTTATTTTCTAAGAGTGCATGAAATTATCTGGAGAGCATATAAATACAAATGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAACACAAACGCCTGGACCCCTCTCCCCTCTATAGGCGCTGATCCGATAATACAAACGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAACACAAACGCCTGGACCCCTCTCCCCTCTATAAGAGCTGATCCGATAATACAAACGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCTGATAATACAAACGCCTGGACCCCTCTCCCCTTTATAAATGCTGATCCAATTGGGTTATGGTGGGTCCCAGGCGATTGGTTTGTTTTCTTTTTAATTTTCAAATTTTTATTTATTTAGGGAATATAAGCATAGAAAAGACAAATGGAAAAGATGTGAACATATTTTGAATATTAATCTGTTTTTCTCATTTGGGGATGTAAGTTTCCCACAGTAGGCCTAATGACAATGACAGATTTAGCCTTCCACAAAGATCTGCTGGTTAATTGTCCCATCCTGCCTGTAACCGTTTCCGTGCTGCTGGGCCCCTGCAGGTTCTACTGTGTGCTTAATTTTGATTTGATGGTCTCTGCTTTTGCCAGTGCTGCTGTTACTGCTAGGTTATGAGTGCTTGCTCCAGTGGAGGAGTTGAATATTAATCAATAGCAAGATTCTGGTCATCAAAATTTGAATATTTCTCATCACTTTACCTTGGTGCCAGTAATGTGTTAGAGTTAAAACTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAAGCTCTGCCTCCTGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCTGGCTAATTGTTTGTATTTTTTAGTAGAGACGGGGTTTCAATGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCAAAAATTTTTTTTGAGGCAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGACATGGTCATAGCTCACTGAAGCCTCCGTTTCCTGGGATCAAGCGTTGTAGCTGGGACTACAG
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ACTCAGTAGACACGGCCAGCACCTCCGATGCAGTGACCTTCATCACCTATGTGCAGTCTTTGAAACGGAAGATCAAGCAGTTTGAGAAGCAAGTTGAGGTGAGCTCTGTGCATATTTAAAAATTTTTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATGCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATTGTGCCACTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACACTAGATCTCTAGTTTAATTTGGCTTCTATAGTATTTTGCATTCTAAGAGAATGACCTGACTCAACCCTTAAGGCACTCTTTTCTTAGTATGGCCCACAGATCATCTCTGTTACAACAGCCTGATGTGCTTGTTAAAACTTAGTGTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACAAAAAATATACAAAAAATTACCTGAGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTCAAAAAACTAAATAAATAATGAAAAACTCAGTGCAGATACTGGGCATCTAGGTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGTTGGGGTACAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCTCCTTGTTGGCCAGGGTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAAGTATCCTTTTAATAACTTGGAATAAAGGGTGAAGCCCAGCTCCACCTTGCTTTGTATCCTGTCCGGGGCCATCCGGATGCAGTGCAGTGCAACACCCAGACCAGCTGCGGTGGGCTCTCAGAGGATGTTGCCCTCTGGCCACGATGTCTTAGGATGGATGGTTTTAGGAGAAGAGCACATGTGTTGATCTTCTGTGTTTTGTTTTGTTTGAGGCAGCATCTCACCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCCTAGCTCACTGCAGCCTCAATCTCCCGGGCTCAAACAATCCTCCCACCTCAGTCTCTTGAGTAGCTGGGACTACAGATACATGCCACCATGCCTGGCTAATTTTTTTCTTTTTAAGTAGAGATGAAGTCCTGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGGACTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAGAACCACTGTGTCTGGCCAGTCTTACGTGTTTTATAACTATAAAGTGCCTTCTCTTTCATGGGGCTCTAATTAATAATTTCTATCATTGTTATAGAAGAAAAAACTTGATTTATTTTTTAACTCTCAAAGCTCTACCGCAATGGCCAGCGCTTACTGGAAAAGCAAAGGTTCCAGTTCCCACCTTCCTGGCTTTATATTGACAACATCGAGGGAGAGTGGGGAGCCTTCAATGACATCATGCGGCGAAAGGACTCTGCCATTCAGCAGCAGGTGGCAAACCTGCAAATGAAGATTGTCCAGGAGGATCGGGCCGTGGAAAGCCGCACCACCGACCTGCTGACTGACGGGGAGAAGACCAAGCCTGTCACGGTGAGTCCCGCCAGGTGGGGACGCAGGAGACTCCTCACCCAGCAGTGTGATTTGGTGACTTTCTTTCAAGCCTAAAAGGCCTTGCTGTGACTGAGCTTTCTAGTATTGAAGACTCTTTTCCTTTTTGTAGTTAAAAAAGCAGATGGAGATAGCAAATGTGAAAATATGAAGCCCAGCTTAGACCTCTTTTTACTCAGAATGGCATTCAGTAGCTGGTTTTAAGGATTAAAGTTTTTCTGTTCTTAGATCATTCTCTTACGTAGATATGCGCAGAAATTAGAGTTTAATTTCCTGTAGACAAAGGCCAAGCTTTCCACTGCTGCTGCTAGTTAATTTAATTTTGGTTGGATGGTCTCTGTTTTTGCCAGTGCTGCCAGTGGATTGTGGGGAGGCAGGTTCTGTTGTCTTCGTCATTGTAGCCATTTAAACCTTCCACCACCCAGAAACTGCCACATCCACTTTTCTTCATGCATTGAAGTATTTATTGAGCACCGACTGTGTTCCAGGCCTTGTTCTAGGTCATTGAGATATAGCAGTGAGTGAAAAGGACAAGAGCCTCCTACCTTCATGGAATCACGCTCCGTGGGAGAGAGAAAAAAAATGAGCAAGAAGAGACAGGAAAGGCAGGTGGTGGTGCTGCTGCGACAGAAGCAGATGAGAGGGCGCTGGCTCAGTGGCTACTGCTGTGCCTGGGAGGGTGGTGTGGAAGGGGGCTGGCAACTCATGCTGATAGCAGAGGTGATGTAGATAACAGTGTGTGTGGTTACTGGAAGTGGAATTCAAAATTTTATTTATTTTATTTTTTGCTCCCTTTGTTATTTTTATTTGTTATTTTCTAAGAGTGCATGAAATTATCTGGAGAGCATATAAATACAAATGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAACACAAACGCCTGGACCCCTCTCCCCTCTATAGGCGCTGATCCGATAATACAAACGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAACACAAACGCCTGGACCCCTCTCCCCTCTATAAGAGCTGATCCGATAATACAAACGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCTGATAATACAAACGCCTGGACCCCTCTCCCCTTTATAAATGCTGATCCAATTGGGTTATGGTGGGTCCCAGGCGATTGGTTTGTTTTCTTTTTAATTTTCAAATTTTTATTTATTTAGGGAATATAAGCATAGAAAAGACAAATGGAAAAGATGTGAACATATTTTGAATATTAATCTGTTTTTCTCATTTGGGGATGTAAGTTTCCCACAGTAGGCCTAATGACAATGACAGATTTAGCCTTCCACAAAGATCTGCTGGTTAATTGTCCCATCCTGCCTGTAACCGTTTCCGTGCTGCTGGGCCCCTGCAGGTTCTACTGTGTGCTTAATTTTGATTTGATGGTCTCTGCTTTTGCCAGTGCTGCTGTTACTGCTAGGTTATGAGTGCTTGCTCCAGTGGAGGAGTTGAATATTAATCAATAGCAAGATTCTGGTCATCAAAATTTGAATATTTCTCATCACTTTACCTTGGTGCCAGTAATGTGTTAGAGTTAAAACTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATCTCCGCTCACTGCAAGCTCTGCCTCCTGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCTGGCTAATTGTTTGTATTTTTTAGTAGAGACGGGGTTTCAATGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCAAAAATTTTTTTTGAGGCAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGACATGGTCATAGCTCACTGAAGCCTCCGTTTCCTGGGATCAAGCGTTGTAGCTGGGACTACAG
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Task1_train_20350
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This alteration occurs within gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
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Pathogenic; Intellectual disability, autosomal dominant 13
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TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACAC
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TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAAAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACAC
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Task1_train_20351
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This mutation is located in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACAC
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TCATAAGATGTCATTTAATGTCCTGCATGTCATTTACATTATTCGTCCAAAATACTGTAAAACTTATTTTGAAACCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAAAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACAC
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Task1_train_20352
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A variant on Chromosome 14 in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Intellectual disability
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCAGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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Task1_train_20353
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A mutation on Chromosome 14 affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCAGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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Task1_train_20354
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The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Inborn genetic diseases
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCAGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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Task1_train_20355
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A variant was discovered on Chromosome 14, affecting DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Intellectual disability, autosomal dominant 13
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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CTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCTGCTCGCCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGAAACCATTTTTTAAAGAAATATTTCACCATTTAAAGAAATGTTGGCAAGCTAAATAGCATCTTATGTTTCTCTCGACAGCTTCGACAAAATTTGGATGCCCTCCTGAACCAGCTGAAAAGCTTCCCTGCCCGGTTGCGACAGTATGCGTCCTATGAGTTTGTTCAGAGGCTTCTGAAAGGTTACATGAAGGTAGGTGGCCAGTATCGCACGGTGATGAGTGTCCATTAGAAACGCACCTGCACAGATCACTTTGTTTACTTTCTCCACAGATAAATATGCTGGTGATTGAACTGAAATCCGAAGCACTTAAAGACCGCCATTGGAAACAGCTCATGAAAAGGCTTCACGTTAATTGGGTTGTTTCTGAGCTAACCCTTGGCCAAATCTGGGATGTTGACTTGCAGAAAAATGAAGCGATTGTCAAGGATGTACTGCTTGTGGCACAAGGGGAGATGGCTTTGGAAGAATTTTTGAAGCAGGCGAGTAATAGGACTGAACGGCTGCTTTACGTTGTGTTTCGGGCTGTTACATAGATCTGAGCTATGTAAAAATGGAGCCTTGTCATCTGTGGTCCTTTTGGTTCTTATAATGCTGGGTCCCTTGTGCAGGTAGTGAATGCCCACATATTGATAACATGCATCTTTCTGGTTTGAATTCAGATAAGAGAAGTGTGGAATACTTATGAACTAGACTTGGTTAATTATCAGAACAAGTGCCGCTTGATCCGTGGCTGGGATGACCTCTTCAACAAGGTCAAAGAACACATCAACAGCGTCTCGGCCATGAAGCTCTCTCCGTATTACAAGGTGCTGTTGCTGGGGAAGCTTTCCCTCCCCACCAGTGGTCTCCCACGCTTTCACTGTAATGCCTTTTCACTGACAGTTACTAGGTACCTGTTTTTTATTGTATTTTTTGAGACAGGGTCTCACTCTGTCTCCCACGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCTGCAGCCTTGACTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCAGGTAGCTGGGACCACAGGCACATGCCACCATGCTGGGCTAGCTTTTTATTTTTTGTAGAGACAGCATCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCAGTCCTTCTGCACTGGCCTCCTAAAGTGCCGGGATTACAGGCGTGAGTCACCACAGCCAGTCAATACTTGTTTTTTTGTTTGTTTGCTTGCTTTTTTGTTTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTGAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTTGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCAAACTTCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACACCCGTCTACTTGTTGTTTAAAATGTGAATCAGATTACTTCATGAGATCCTGATCTGCGCTTTTTCAGTGAGTTTTGGCATATCTGTGAGTAGAAGGGTCAGCAGTTTACCTCTCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGAACAGGATCATGGCTCTCTTTGATGTGTGGATTGATGTGCAGAGGCGGTGGGTCTACCTGGAAGGTATCTTCACAGGCAGTGCAGATATCAAGCACCTGCTGCCAGTGGAAACCCAGCAGTTTCAGAGGTATGGCCTCCAGCCAGAGAGCCAAATTTGCCAGCGGCTAGTGACTACTCTACACAAAGGCTGACGCATGTTTTAATTTCATTTGTAGCATCAGCACTGAGTTTTTGGCTCTAATGAAAAAAGTGTCCAAGTCTCCCCTTGTTATGGATGTTCTGAACATCCAGGGAGTACAGAGGTCTCTGGAAAGATTGGCAGACCTGCTAGGAAAGATCCAGAAAGCATTGGGAGAATATCTGGAAAGAGAGCGGTCATCTTTCCCCAGGTAAGATCCTTGCTTTGACTTGGCCTGGAGTCAAGTTGAATTTCAGTTGTGCATTTTTCCAGTGATCTTCTTTCCCTTCTGGGCCTGTGTTTGTTAGTTTTGACATCAAGGATTTTGTTAGCCAATAATACATATAATGATTACCATTCCCTTCCCTGTCATGCAGTGATTACTGATTGTACCTACCTTGGATTTTTTAAATTGTCCTACCTTGGATTTCTTAAATCCTTAATTTAACTATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCAGCCTCTGACAGTTTTCTAAGTGGCATCTTTTCCTTTCTGAATAGTTTGCTTAGGCTGAATTGGACAGATTCTTTTAAAAATGAGTTAATAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGTTTAGGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCAGCTGCCTATAATCCCAGGTACTCAGGAGGCTGTGGCTAGAGAATCTCTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCGCTGCACTCCAGCTGGGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAAAAGAGTTAATAAAGTAACTTACTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTAGGAGGCTCAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAAGTAACTTACTAAGGCAAATGACATGAAATTCTTTGCATTCATTGAATTCCTCTTCAAGATCTTGTTAGGTAAGTGTGTATCTTTTGCCAAGGGCTAGAAGAAATTCTGATGTGATCTGAATTTGGGCTGGAGATTGCCACCACCAGACACATGTTCTTTCCCTTCCTGCAGTTTGAAATCTTACCTTGATTCACCTTATATGTGTATATAATATTTTTGCAACTTGAGTGTTATTTTAATTTTAGGTTCTATTTTGTGGGTGATGAAGATTTGCTTGAAATCATTGGAAACAGCAAGAATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGCTGGAGTTTCGAGCATCATCCTGAACGAGGATAACTCTGTTGTTTTGGGTATTTCATCTCGGGAAGGAGAGGAGGTAAATTTATGTTCGTAACTTTTAAAACTTCTCTCACATTTTTGCATACCTCATTTCT
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Task1_train_20356
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Here is a mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTGAATGTACTTCTTAATTATGTGGTGTGTACATTCTAAAATCTTAAATTTGTTTGCATTTATTACTACTTTGATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCTCCCAGGCTGGAGTTCAGTGGTGCAACCTTGGCTCATTGCAACCTCTGCCTCCCGGGTTCAAGCGATCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCCACCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCCTACCTGGCCACTACTTGGATTTTTTAAATGAGTTGCTTTTTGTAGTTCTTTTAAAGCTAAAGATATGTTTTCAGTTAGGTAATGGACTCAAGCACTCTGTTGCTTTTCTTTAAACAGGACCTGCTGGAACTGGGAAAACAGAGTCTGTCAAAGCTCTTGGCCATCAGCTTGGACGGTTTGTTTTAGTTTTCAACTGTGATGAAACCTTTGATTTCCAGGTGAGACACTTTATGGGATCCACCTAAAATGTAATGCCCTGCAGGGATCATTTGGGGAATATCAAGCTCCGTACCTCTCTCAAAGCCATTGGTCTTACAGCTCAGCGTGGTTTATATGGCCTCCTGAGTCCTGTAGTAGGGATAGGTGTTATTTTGAAGTGTTTGAGGTGTCCAGCATACATGCATTGAAGTTGACTTCAGTTTCATGTTTTCAAAGTTAGATCTTTAGTGTAATATTTTTCTAAAATGTCAGTTTTTTGACGACATTTTTAGTGCCTGTGTCTTGGAATAAGCACATTATGGAAGAGGTTTATCTTTAATCAACAAAAAGTGATAGAATAAAAACAGTAGCTTTGTCATTGAGATTTTTTTGGCACAGAAGGAAAGAAGGTGTTATACTTTACATCTGTCATGATAACGGCTGTTGTTCATGAAGTAACTGCTGTGTGTAGGCACTGAGCCCCTCACCTGAGGCGTGACTCTAATTTATCCTTCACAGCCACCGTGGGAGTAGGTAGTAGTATTCCCATTTCACAGATGAGGAGATGTGCATTTCAAAAAGATGTGACTTGCCCAAGGCCAAGCAGATTGTCAGAGTCAGGGTTTGAGCCCCGTGAAGCCAGCACTGAGGCAGGTGGTATGGTAGTCTGCTCAGGCCACCATATCCAAGCAGCACAGGCTGTGTGGCTTAACAATAGAAATGTATTTCCTCACAGTTCTGGAGGCTGGGGAGTCCAAGATCAAGGTGCCAGCGGGGTTCAGTTCCCAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAG
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GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTGAATGTACTTCTTAATTATGTGGTGTGTACATTCTAAAATCTTAAATTTGTTTGCATTTATTACTACTTTGATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCTCCCAGGCTGGAGTTCAGTGGTGCAACCTTGGCTCATTGCAACCTCTGCCTCCCGGGTTCAAGCGATCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCCACCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCCTACCTGGCCACTACTTGGATTTTTTAAATGAGTTGCTTTTTGTAGTTCTTTTAAAGCTAAAGATATGTTTTCAGTTAGGTAATGGACTCAAGCACTCTGTTGCTTTTCTTTAAACAGGACCTGCTGGAACTGGGAAAACAGAGTCTGTCAAAGCTCTTGGCCATCAGCTTGGACGGTTTGTTTTAGTTTTCAACTGTGATGAAACCTTTGATTTCCAGGTGAGACACTTTATGGGATCCACCTAAAATGTAATGCCCTGCAGGGATCATTTGGGGAATATCAAGCTCCGTACCTCTCTCAAAGCCATTGGTCTTACAGCTCAGCGTGGTTTATATGGCCTCCTGAGTCCTGTAGTAGGGATAGGTGTTATTTTGAAGTGTTTGAGGTGTCCAGCATACATGCATTGAAGTTGACTTCAGTTTCATGTTTTCAAAGTTAGATCTTTAGTGTAATATTTTTCTAAAATGTCAGTTTTTTGACGACATTTTTAGTGCCTGTGTCTTGGAATAAGCACATTATGGAAGAGGTTTATCTTTAATCAACAAAAAGTGATAGAATAAAAACAGTAGCTTTGTCATTGAGATTTTTTTGGCACAGAAGGAAAGAAGGTGTTATACTTTACATCTGTCATGATAACGGCTGTTGTTCATGAAGTAACTGCTGTGTGTAGGCACTGAGCCCCTCACCTGAGGCGTGACTCTAATTTATCCTTCACAGCCACCGTGGGAGTAGGTAGTAGTATTCCCATTTCACAGATGAGGAGATGTGCATTTCAAAAAGATGTGACTTGCCCAAGGCCAAGCAGATTGTCAGAGTCAGGGTTTGAGCCCCGTGAAGCCAGCACTGAGGCAGGTGGTATGGTAGTCTGCTCAGGCCACCATATCCAAGCAGCACAGGCTGTGTGGCTTAACAATAGAAATGTATTTCCTCACAGTTCTGGAGGCTGGGGAGTCCAAGATCAAGGTGCCAGCGGGGTTCAGTTCCCAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACTGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAG
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Task1_train_20357
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Here’s a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; DYNC1H1-related neurodevelopmental disorders
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GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTGAATGTACTTCTTAATTATGTGGTGTGTACATTCTAAAATCTTAAATTTGTTTGCATTTATTACTACTTTGATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCTCCCAGGCTGGAGTTCAGTGGTGCAACCTTGGCTCATTGCAACCTCTGCCTCCCGGGTTCAAGCGATCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCCACCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCCTACCTGGCCACTACTTGGATTTTTTAAATGAGTTGCTTTTTGTAGTTCTTTTAAAGCTAAAGATATGTTTTCAGTTAGGTAATGGACTCAAGCACTCTGTTGCTTTTCTTTAAACAGGACCTGCTGGAACTGGGAAAACAGAGTCTGTCAAAGCTCTTGGCCATCAGCTTGGACGGTTTGTTTTAGTTTTCAACTGTGATGAAACCTTTGATTTCCAGGTGAGACACTTTATGGGATCCACCTAAAATGTAATGCCCTGCAGGGATCATTTGGGGAATATCAAGCTCCGTACCTCTCTCAAAGCCATTGGTCTTACAGCTCAGCGTGGTTTATATGGCCTCCTGAGTCCTGTAGTAGGGATAGGTGTTATTTTGAAGTGTTTGAGGTGTCCAGCATACATGCATTGAAGTTGACTTCAGTTTCATGTTTTCAAAGTTAGATCTTTAGTGTAATATTTTTCTAAAATGTCAGTTTTTTGACGACATTTTTAGTGCCTGTGTCTTGGAATAAGCACATTATGGAAGAGGTTTATCTTTAATCAACAAAAAGTGATAGAATAAAAACAGTAGCTTTGTCATTGAGATTTTTTTGGCACAGAAGGAAAGAAGGTGTTATACTTTACATCTGTCATGATAACGGCTGTTGTTCATGAAGTAACTGCTGTGTGTAGGCACTGAGCCCCTCACCTGAGGCGTGACTCTAATTTATCCTTCACAGCCACCGTGGGAGTAGGTAGTAGTATTCCCATTTCACAGATGAGGAGATGTGCATTTCAAAAAGATGTGACTTGCCCAAGGCCAAGCAGATTGTCAGAGTCAGGGTTTGAGCCCCGTGAAGCCAGCACTGAGGCAGGTGGTATGGTAGTCTGCTCAGGCCACCATATCCAAGCAGCACAGGCTGTGTGGCTTAACAATAGAAATGTATTTCCTCACAGTTCTGGAGGCTGGGGAGTCCAAGATCAAGGTGCCAGCGGGGTTCAGTTCCCAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAG
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GATGGAATCATATATTAAAATGTTTAAAGATAAAGCTAATGATTTGAATGTACTTCTTTTTGAGATGGAGTGTCTGTCGCCCAGGCTGGAGCACAGTGGTGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCATCACACCAGGCTAATTTTTGTATTTTTCATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGACCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCGGCCTGAATGTACTTCTTAATTATGTGGTGTGTACATTCTAAAATCTTAAATTTGTTTGCATTTATTACTACTTTGATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCTCCCAGGCTGGAGTTCAGTGGTGCAACCTTGGCTCATTGCAACCTCTGCCTCCCGGGTTCAAGCGATCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCCACCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCCTACCTGGCCACTACTTGGATTTTTTAAATGAGTTGCTTTTTGTAGTTCTTTTAAAGCTAAAGATATGTTTTCAGTTAGGTAATGGACTCAAGCACTCTGTTGCTTTTCTTTAAACAGGACCTGCTGGAACTGGGAAAACAGAGTCTGTCAAAGCTCTTGGCCATCAGCTTGGACGGTTTGTTTTAGTTTTCAACTGTGATGAAACCTTTGATTTCCAGGTGAGACACTTTATGGGATCCACCTAAAATGTAATGCCCTGCAGGGATCATTTGGGGAATATCAAGCTCCGTACCTCTCTCAAAGCCATTGGTCTTACAGCTCAGCGTGGTTTATATGGCCTCCTGAGTCCTGTAGTAGGGATAGGTGTTATTTTGAAGTGTTTGAGGTGTCCAGCATACATGCATTGAAGTTGACTTCAGTTTCATGTTTTCAAAGTTAGATCTTTAGTGTAATATTTTTCTAAAATGTCAGTTTTTTGACGACATTTTTAGTGCCTGTGTCTTGGAATAAGCACATTATGGAAGAGGTTTATCTTTAATCAACAAAAAGTGATAGAATAAAAACAGTAGCTTTGTCATTGAGATTTTTTTGGCACAGAAGGAAAGAAGGTGTTATACTTTACATCTGTCATGATAACGGCTGTTGTTCATGAAGTAACTGCTGTGTGTAGGCACTGAGCCCCTCACCTGAGGCGTGACTCTAATTTATCCTTCACAGCCACCGTGGGAGTAGGTAGTAGTATTCCCATTTCACAGATGAGGAGATGTGCATTTCAAAAAGATGTGACTTGCCCAAGGCCAAGCAGATTGTCAGAGTCAGGGTTTGAGCCCCGTGAAGCCAGCACTGAGGCAGGTGGTATGGTAGTCTGCTCAGGCCACCATATCCAAGCAGCACAGGCTGTGTGGCTTAACAATAGAAATGTATTTCCTCACAGTTCTGGAGGCTGGGGAGTCCAAGATCAAGGTGCCAGCGGGGTTCAGTTCCCAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACTGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAG
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Task1_train_20358
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The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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CAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAGCTCTCTTCCCAAAGCCATTATGACTTCGGTCTTCGGGCTTTGAAGAGTGTGCTGGTGAGTGCAGGCAATGTGAAGAGAGAGAGAATCCAGAAGATAAAGAGGGAGAAAGAGGAACGAGGGGAAGCAGTTGATGAAGGAGAAATTGCTGAAAATCTCCCTGAACAAGAGGTTCGTTACAAACGTTTTGATCACTCAAACCTTATACGTTATTTAAATTTACCTTTTTAACATTTAAGCCATGACTTGTGAGTTCTTCTTGCAGTTCACATGTCTTGGGATGGCTGAAATAGACTGTAATGTTGACCCAGTGAGTCGAGTGCACGAATGTGGGCGAGTGGTGCTCGCACCCTTTGTTCACCAACAGTTACTGATCACGCACCTCCTGGGGATGCAGCGGGCAGTACTTGAGCCATGCTGCGCTGCTCACAGCCCAGCCCTCTCCCCGTAGATTCTGATACAGAGCGTCTGTGAGACGATGGTGCCAAAGCTGGTGGCAGAGGACATCCCGCTGCTCTTCAGCCTCCTGTCGGACGTGTTCCCTGGAGTCCAGTATCACAGGGGTGAGATGACTGCCCTTCGAGAGGAGCTGAAGAAAGTGTGTCAGGAGATGTATTTGACATATGGAGATGGAGAAGAAGTTGGTGGAATGTGGGTTGAAAAGGTAACTTGGATTGTTTCACTGGCCACTGCCCTCACAGACCCTGCTGGCTTTAGTGTCTGGTAATGACAACCGTGGGCCCTTCGATGAAACTGTCCACAAAGGCTGTGGAGGTGCATAATATGCTTTATGAAGATTTGCCCAAGGCCTATTTGAATTTTTGTTGTTGTTGTTTAAATGAAGAGGAAACAATACTTAACCTGAAAATTTTACATGATACAGTTCAATTTCTGAAAATGCTAAGTGCATGACTATATTGGAAAGTTGTTTATACTGATAAAAATTCTGCTTACCAGACTTTCCAGTGCCAGAGATGAACAACCTGAATCGCTGATCAATACGTAGTTTACATTCTGTATTGGCTTCTTTCCTTCCTCTATGTGATTCATTTAAGAAAAAGTTTATTGTTTACACAAGCTGTGTGTGTTTGGCCTGAGAGATGCTGTACGGGATTGAACACATAGCTCATCCATTGGGTCTCTTGTTGTCCTCGGCGGGATCTGATGTGTCCTTGTTGAGGCTGCTCATTGGTGTCTCCTGTCCCACTGGCTCCAGCCTTCCTGACTTACTAAAGAACTCGCCACAGTTTGGAAATGTTTGTTTTACATGTGACCTGTGTAACATCTCTCCAGCTGGGGAGTTTCAGTACTTGCCTTTAATAATCCATAGATAGGCGCTTGTAAAGCCAGCTACTTGGGAGAGTGAGGAAGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCATTCCAGTCTGGGTGACAGAGAGAGACTCCGTTTCAGGAAAAAAAAAAAAATCCACACATAATGTTTCTTGCTCACTTTCACAAGAGGTGGCTGGGCGAGGAGCTGTCCCCATTCCTCCTCTGGGATGGTCACTGTGCTGGTCTGTTGGGCCCTGCAGGTTCTCCAGCTCTATCAGATCACCCAGATCAATCATGGCCTGATGATGGTGGGGCCCTCGGGAAGTGGGAAGAGCATGGCCTGGCGTGTCCTGCTG
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CAGTGAGGGCCCTCTTCCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACTCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAGCTCTCTTCCCAAAGCCATTATGACTTCGGTCTTCGGGCTTTGAAGAGTGTGCTGGTGAGTGCAGGCAATGTGAAGAGAGAGAGAATCCAGAAGATAAAGAGGGAGAAAGAGGAACGAGGGGAAGCAGTTGATGAAGGAGAAATTGCTGAAAATCTCCCTGAACAAGAGGTTCGTTACAAACGTTTTGATCACTCAAACCTTATACGTTATTTAAATTTACCTTTTTAACATTTAAGCCATGACTTGTGAGTTCTTCTTGCAGTTCACATGTCTTGGGATGGCTGAAATAGACTGTAATGTTGACCCAGTGAGTCGAGTGCACGAATGTGGGCGAGTGGTGCTCGCACCCTTTGTTCACCAACAGTTACTGATCACGCACCTCCTGGGGATGCAGCGGGCAGTACTTGAGCCATGCTGCGCTGCTCACAGCCCAGCCCTCTCCCCGTAGATTCTGATACAGAGCGTCTGTGAGACGATGGTGCCAAAGCTGGTGGCAGAGGACATCCCGCTGCTCTTCAGCCTCCTGTCGGACGTGTTCCCTGGAGTCCAGTATCACAGGGGTGAGATGACTGCCCTTCGAGAGGAGCTGAAGAAAGTGTGTCAGGAGATGTATTTGACATATGGAGATGGAGAAGAAGTTGGTGGAATGTGGGTTGAAAAGGTAACTTGGATTGTTTCACTGGCCACTGCCCTCACAGACCCTGCTGGCTTTAGTGTCTGGTAATGACAACCGTGGGCCCTTCGATGAAACTGTCCACAAAGGCTGTGGAGGTGCATAATATGCTTTATGAAGATTTGCCCAAGGCCTATTTGAATTTTTGTTGTTGTTGTTTAAATGAAGAGGAAACAATACTTAACCTGAAAATTTTACATGATACAGTTCAATTTCTGAAAATGCTAAGTGCATGACTATATTGGAAAGTTGTTTATACTGATAAAAATTCTGCTTACCAGACTTTCCAGTGCCAGAGATGAACAACCTGAATCGCTGATCAATACGTAGTTTACATTCTGTATTGGCTTCTTTCCTTCCTCTATGTGATTCATTTAAGAAAAAGTTTATTGTTTACACAAGCTGTGTGTGTTTGGCCTGAGAGATGCTGTACGGGATTGAACACATAGCTCATCCATTGGGTCTCTTGTTGTCCTCGGCGGGATCTGATGTGTCCTTGTTGAGGCTGCTCATTGGTGTCTCCTGTCCCACTGGCTCCAGCCTTCCTGACTTACTAAAGAACTCGCCACAGTTTGGAAATGTTTGTTTTACATGTGACCTGTGTAACATCTCTCCAGCTGGGGAGTTTCAGTACTTGCCTTTAATAATCCATAGATAGGCGCTTGTAAAGCCAGCTACTTGGGAGAGTGAGGAAGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCATTCCAGTCTGGGTGACAGAGAGAGACTCCGTTTCAGGAAAAAAAAAAAAATCCACACATAATGTTTCTTGCTCACTTTCACAAGAGGTGGCTGGGCGAGGAGCTGTCCCCATTCCTCCTCTGGGATGGTCACTGTGCTGGTCTGTTGGGCCCTGCAGGTTCTCCAGCTCTATCAGATCACCCAGATCAATCATGGCCTGATGATGGTGGGGCCCTCGGGAAGTGGGAAGAGCATGGCCTGGCGTGTCCTGCTG
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Task1_train_20359
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Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Abnormal cerebral morphology
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CCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAGCTCTCTTCCCAAAGCCATTATGACTTCGGTCTTCGGGCTTTGAAGAGTGTGCTGGTGAGTGCAGGCAATGTGAAGAGAGAGAGAATCCAGAAGATAAAGAGGGAGAAAGAGGAACGAGGGGAAGCAGTTGATGAAGGAGAAATTGCTGAAAATCTCCCTGAACAAGAGGTTCGTTACAAACGTTTTGATCACTCAAACCTTATACGTTATTTAAATTTACCTTTTTAACATTTAAGCCATGACTTGTGAGTTCTTCTTGCAGTTCACATGTCTTGGGATGGCTGAAATAGACTGTAATGTTGACCCAGTGAGTCGAGTGCACGAATGTGGGCGAGTGGTGCTCGCACCCTTTGTTCACCAACAGTTACTGATCACGCACCTCCTGGGGATGCAGCGGGCAGTACTTGAGCCATGCTGCGCTGCTCACAGCCCAGCCCTCTCCCCGTAGATTCTGATACAGAGCGTCTGTGAGACGATGGTGCCAAAGCTGGTGGCAGAGGACATCCCGCTGCTCTTCAGCCTCCTGTCGGACGTGTTCCCTGGAGTCCAGTATCACAGGGGTGAGATGACTGCCCTTCGAGAGGAGCTGAAGAAAGTGTGTCAGGAGATGTATTTGACATATGGAGATGGAGAAGAAGTTGGTGGAATGTGGGTTGAAAAGGTAACTTGGATTGTTTCACTGGCCACTGCCCTCACAGACCCTGCTGGCTTTAGTGTCTGGTAATGACAACCGTGGGCCCTTCGATGAAACTGTCCACAAAGGCTGTGGAGGTGCATAATATGCTTTATGAAGATTTGCCCAAGGCCTATTTGAATTTTTGTTGTTGTTGTTTAAATGAAGAGGAAACAATACTTAACCTGAAAATTTTACATGATACAGTTCAATTTCTGAAAATGCTAAGTGCATGACTATATTGGAAAGTTGTTTATACTGATAAAAATTCTGCTTACCAGACTTTCCAGTGCCAGAGATGAACAACCTGAATCGCTGATCAATACGTAGTTTACATTCTGTATTGGCTTCTTTCCTTCCTCTATGTGATTCATTTAAGAAAAAGTTTATTGTTTACACAAGCTGTGTGTGTTTGGCCTGAGAGATGCTGTACGGGATTGAACACATAGCTCATCCATTGGGTCTCTTGTTGTCCTCGGCGGGATCTGATGTGTCCTTGTTGAGGCTGCTCATTGGTGTCTCCTGTCCCACTGGCTCCAGCCTTCCTGACTTACTAAAGAACTCGCCACAGTTTGGAAATGTTTGTTTTACATGTGACCTGTGTAACATCTCTCCAGCTGGGGAGTTTCAGTACTTGCCTTTAATAATCCATAGATAGGCGCTTGTAAAGCCAGCTACTTGGGAGAGTGAGGAAGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCATTCCAGTCTGGGTGACAGAGAGAGACTCCGTTTCAGGAAAAAAAAAAAAATCCACACATAATGTTTCTTGCTCACTTTCACAAGAGGTGGCTGGGCGAGGAGCTGTCCCCATTCCTCCTCTGGGATGGTCACTGTGCTGGTCTGTTGGGCCCTGCAGGTTCTCCAGCTCTATCAGATCACCCAGATCAATCATGGCCTGATGATGGTGGGGCCCTCGGGAAGTGGGAAGAGCATGGCCTGGCGTGTCCTGCTGAAGGCATTGGAGAGAC
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CCTGGCTTGCACGTGGCTATTTTGTCGCCACAAGGCCTTTCCTCGGGATACATGCAGGGAGAGCGCTCTGGTTCCTCCTCCTCTTCTTAGAAGGGCACCAGTCCTGTGGATCAGCGGCCCCAACCCTTATGGCCTCATTTAACCTTAGTTATGTCCTTACACGCTCTTTCGCTAAAGACAAACCCACTAGGGTTAGGGCATCAACATACTGATTTGTGGCAAGGGAGAGGGGAGACAATTGAGGGCACAGCAGGTGGTTTTAGCGCCTTTCTTCCTCTCCTTTCCAGGCAATGGGCCGGATCTTTGTGGGCCTTTGCCAGGTGGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCAGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAGCTCTCTTCCCAAAGCCATTATGACTTCGGTCTTCGGGCTTTGAAGAGTGTGCTGGTGAGTGCAGGCAATGTGAAGAGAGAGAGAATCCAGAAGATAAAGAGGGAGAAAGAGGAACGAGGGGAAGCAGTTGATGAAGGAGAAATTGCTGAAAATCTCCCTGAACAAGAGGTTCGTTACAAACGTTTTGATCACTCAAACCTTATACGTTATTTAAATTTACCTTTTTAACATTTAAGCCATGACTTGTGAGTTCTTCTTGCAGTTCACATGTCTTGGGATGGCTGAAATAGACTGTAATGTTGACCCAGTGAGTCGAGTGCACGAATGTGGGCGAGTGGTGCTCGCACCCTTTGTTCACCAACAGTTACTGATCACGCACCTCCTGGGGATGCAGCGGGCAGTACTTGAGCCATGCTGCGCTGCTCACAGCCCAGCCCTCTCCCCGTAGATTCTGATACAGAGCGTCTGTGAGACGATGGTGCCAAAGCTGGTGGCAGAGGACATCCCGCTGCTCTTCAGCCTCCTGTCGGACGTGTTCCCTGGAGTCCAGTATCACAGGGGTGAGATGACTGCCCTTCGAGAGGAGCTGAAGAAAGTGTGTCAGGAGATGTATTTGACATATGGAGATGGAGAAGAAGTTGGTGGAATGTGGGTTGAAAAGGTAACTTGGATTGTTTCACTGGCCACTGCCCTCACAGACCCTGCTGGCTTTAGTGTCTGGTAATGACAACCGTGGGCCCTTCGATGAAACTGTCCACAAAGGCTGTGGAGGTGCATAATATGCTTTATGAAGATTTGCCCAAGGCCTATTTGAATTTTTGTTGTTGTTGTTTAAATGAAGAGGAAACAATACTTAACCTGAAAATTTTACATGATACAGTTCAATTTCTGAAAATGCTAAGTGCATGACTATATTGGAAAGTTGTTTATACTGATAAAAATTCTGCTTACCAGACTTTCCAGTGCCAGAGATGAACAACCTGAATCGCTGATCAATACGTAGTTTACATTCTGTATTGGCTTCTTTCCTTCCTCTATGTGATTCATTTAAGAAAAAGTTTATTGTTTACACAAGCTGTGTGTGTTTGGCCTGAGAGATGCTGTACGGGATTGAACACATAGCTCATCCATTGGGTCTCTTGTTGTCCTCGGCGGGATCTGATGTGTCCTTGTTGAGGCTGCTCATTGGTGTCTCCTGTCCCACTGGCTCCAGCCTTCCTGACTTACTAAAGAACTCGCCACAGTTTGGAAATGTTTGTTTTACATGTGACCTGTGTAACATCTCTCCAGCTGGGGAGTTTCAGTACTTGCCTTTAATAATCCATAGATAGGCGCTTGTAAAGCCAGCTACTTGGGAGAGTGAGGAAGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCATTCCAGTCTGGGTGACAGAGAGAGACTCCGTTTCAGGAAAAAAAAAAAAATCCACACATAATGTTTCTTGCTCACTTTCACAAGAGGTGGCTGGGCGAGGAGCTGTCCCCATTCCTCCTCTGGGATGGTCACTGTGCTGGTCTGTTGGGCCCTGCAGGTTCTCCAGCTCTATCAGATCACCCAGATCAATCATGGCCTGATGATGGTGGGGCCCTCGGGAAGTGGGAAGAGCATGGCCTGGCGTGTCCTGCTGAAGGCATTGGAGAGAC
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Task1_train_20360
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Chromosome 14 houses a mutation in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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AGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAGCTCTCTTCCCAAAGCCATTATGACTTCGGTCTTCGGGCTTTGAAGAGTGTGCTGGTGAGTGCAGGCAATGTGAAGAGAGAGAGAATCCAGAAGATAAAGAGGGAGAAAGAGGAACGAGGGGAAGCAGTTGATGAAGGAGAAATTGCTGAAAATCTCCCTGAACAAGAGGTTCGTTACAAACGTTTTGATCACTCAAACCTTATACGTTATTTAAATTTACCTTTTTAACATTTAAGCCATGACTTGTGAGTTCTTCTTGCAGTTCACATGTCTTGGGATGGCTGAAATAGACTGTAATGTTGACCCAGTGAGTCGAGTGCACGAATGTGGGCGAGTGGTGCTCGCACCCTTTGTTCACCAACAGTTACTGATCACGCACCTCCTGGGGATGCAGCGGGCAGTACTTGAGCCATGCTGCGCTGCTCACAGCCCAGCCCTCTCCCCGTAGATTCTGATACAGAGCGTCTGTGAGACGATGGTGCCAAAGCTGGTGGCAGAGGACATCCCGCTGCTCTTCAGCCTCCTGTCGGACGTGTTCCCTGGAGTCCAGTATCACAGGGGTGAGATGACTGCCCTTCGAGAGGAGCTGAAGAAAGTGTGTCAGGAGATGTATTTGACATATGGAGATGGAGAAGAAGTTGGTGGAATGTGGGTTGAAAAGGTAACTTGGATTGTTTCACTGGCCACTGCCCTCACAGACCCTGCTGGCTTTAGTGTCTGGTAATGACAACCGTGGGCCCTTCGATGAAACTGTCCACAAAGGCTGTGGAGGTGCATAATATGCTTTATGAAGATTTGCCCAAGGCCTATTTGAATTTTTGTTGTTGTTGTTTAAATGAAGAGGAAACAATACTTAACCTGAAAATTTTACATGATACAGTTCAATTTCTGAAAATGCTAAGTGCATGACTATATTGGAAAGTTGTTTATACTGATAAAAATTCTGCTTACCAGACTTTCCAGTGCCAGAGATGAACAACCTGAATCGCTGATCAATACGTAGTTTACATTCTGTATTGGCTTCTTTCCTTCCTCTATGTGATTCATTTAAGAAAAAGTTTATTGTTTACACAAGCTGTGTGTGTTTGGCCTGAGAGATGCTGTACGGGATTGAACACATAGCTCATCCATTGGGTCTCTTGTTGTCCTCGGCGGGATCTGATGTGTCCTTGTTGAGGCTGCTCATTGGTGTCTCCTGTCCCACTGGCTCCAGCCTTCCTGACTTACTAAAGAACTCGCCACAGTTTGGAAATGTTTGTTTTACATGTGACCTGTGTAACATCTCTCCAGCTGGGGAGTTTCAGTACTTGCCTTTAATAATCCATAGATAGGCGCTTGTAAAGCCAGCTACTTGGGAGAGTGAGGAAGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCATTCCAGTCTGGGTGACAGAGAGAGACTCCGTTTCAGGAAAAAAAAAAAAATCCACACATAATGTTTCTTGCTCACTTTCACAAGAGGTGGCTGGGCGAGGAGCTGTCCCCATTCCTCCTCTGGGATGGTCACTGTGCTGGTCTGTTGGGCCCTGCAGGTTCTCCAGCTCTATCAGATCACCCAGATCAATCATGGCCTGATGATGGTGGGGCCCTCGGGAAGTGGGAAGAGCATGGCCTGGCGTGTCCTGCTGAAGGCATTGGAGAGACTCGAGGGTGTGGAAGGTGTGGCCCATATCATCGACCCCAAGGCCATCAGCAAAGACCACCTCTACGGAACCCTGGACCCCAACACCAGGGAATGGACAGATGGGCTCTTCACACACGTGCTGAGAAAGTACGTCTTCTTTGATCTGTGTTTGTGTTCTCCTGGATATGGGCGCTAAGTACTTTGCTCTCACAAGAGCAGAGTATACGTTATTTTTCAACCAAAGTCTGAGCAAATTAAAGGTCATTTCAGAAACCATCATCGGTAAACATGCCTAATGTTAAAATCTTGATTTAATCAGCAGCTATTTTAAAATCCTTCCCAACCAGGATCATCGACAGCGTGAGAGGCGAGCTGCAGAAGCGCCAGTGGATCGTCTTCGATGGCGA
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AGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCATCTCTACTGAAAATATAAAAATTAGCCTGACATGGTGGTGCACGCCTATAATCCCAGCTATTCGGAAGGCTGAGGCAGGGAGAGTCCCTTGAACCCAGGAGGCAGAGGTTGTAGTGAACTGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAAACTGTTCCCCCAAAAAAAGAAACCCAGGACTGTATTGCATCACAGCTTTTAGTCCTCATTCTAGGGCAGCAGCATAGAGGTTTCTATGTCCTAGGACAACCAAAAACCTGAGCAGTCCTTCCTCAGCCAGCCAGATGCCCCCGTGCTCCCTTAGAGCTTGTGTGTTCCCTCCATGGTCTTTGCCACGGGATGAGCGTGTCCTCTGGTGCGGGCCCTTGGTGCCCCCTCTTCATTCTCACATCGTCAGAGAGCCAGCCTCCCCAGCCACCTGTCTGGCCAGTGTTCTGCCATCTGTCTTTGGAAACAAGCCCTTTATCACGATAGGAGCAGCTGTCGGAGAGGCCCCAGGGACCACTTCCCTTCCCAGTTCAACACAAAGTCCCAGCATGTGGGGTCAGGGAGGGTGGGATGCTGAAGGAGGCAAACATTTGGGTATTGGGTAAGTGTGAAATTCTGTCTTATGTGCACAGCGTAGCTTTTAATGTTTCCTTTTATTGCATAATAACAACTTGCCTTATGGAGAATTCCCCAGACCTCCTAAATAAAACAAAAGGAGTGTGGAGGAAAGCAATACTTGCCTTTGTGATCAGTATTCTCTTAAGGCGAGAATACACTTTGTTCCAAAGTGGCTCAGAGGTGCTTGGAGGTTTGGGTTTTTTTTATTTTGATGATGCTAGGAGCAGGTAATTCCCATGATGTAAGCCAGTCAGTGTCGCGGCATTTATTCCTTTTTTTTTTTTTTGCACAATTTGTTGGACTGCATCTCTATCTCGAGTTCTCCATGACACTCAGGTGTGGTGTTGCCCAAATAAAATAGTGGTCTCTGCCTCTGGTGGCTTGACCTGGGACACGTGCACATGAGGTACATGGGAATGGGTCCACCTGGGCTGGGAGAATGTGGCTGGTGGTCCCCGAAGAAAGGCCAAAGAGCAGCCCCCGAGGAAGCGTCTACTTCAGCTCCCTGGGAGAACGAGAGCTTTGTCTGTTGTTTTAGAGACATTTTAGAATGCATTTTGTTTTTTTTTTTTAACATTTCTAGTCTTAACGCTATCATCTCATTCTCAGCCTCTGCCCCCATTACTTGTGAGCTGCTGAACAAACAAGTCAAGGTGAGCCCGGACATGGCCATCTTCATCACCATGAACCCTGGCTACGCGGGCCGGTCTAACCTTCCTGACAACTTGAAGAAGCTGTTCCGGAGCTTGGCCATGACCAAGCCCGACCGGCAGTTAATCGCCCAGGTCATGCTGTACTCACAGGGTTTCCGCACTGCTGAAGTGCTTGCCAACAAAATCGTCCCGTTTTTTAAGTAAGTAGCCTAGAATTCTTCATAATCATGTTTCTTGCATATGTTAAATGTGTCCATTTAACCTTAAAATTTTTATATGTAATGATGGTACGTCTTTCAAAATATCCATCTCTGGTTTCTTGACACTTGACCCTATTATTGCTTAAAGTATACTGTTATTAAAGATAGCCTTTTTTTCTTCTTTTCTAGACTATGCGATGAGCAGCTCTCTTCCCAAAGCCATTATGACTTCGGTCTTCAGGCTTTGAAGAGTGTGCTGGTGAGTGCAGGCAATGTGAAGAGAGAGAGAATCCAGAAGATAAAGAGGGAGAAAGAGGAACGAGGGGAAGCAGTTGATGAAGGAGAAATTGCTGAAAATCTCCCTGAACAAGAGGTTCGTTACAAACGTTTTGATCACTCAAACCTTATACGTTATTTAAATTTACCTTTTTAACATTTAAGCCATGACTTGTGAGTTCTTCTTGCAGTTCACATGTCTTGGGATGGCTGAAATAGACTGTAATGTTGACCCAGTGAGTCGAGTGCACGAATGTGGGCGAGTGGTGCTCGCACCCTTTGTTCACCAACAGTTACTGATCACGCACCTCCTGGGGATGCAGCGGGCAGTACTTGAGCCATGCTGCGCTGCTCACAGCCCAGCCCTCTCCCCGTAGATTCTGATACAGAGCGTCTGTGAGACGATGGTGCCAAAGCTGGTGGCAGAGGACATCCCGCTGCTCTTCAGCCTCCTGTCGGACGTGTTCCCTGGAGTCCAGTATCACAGGGGTGAGATGACTGCCCTTCGAGAGGAGCTGAAGAAAGTGTGTCAGGAGATGTATTTGACATATGGAGATGGAGAAGAAGTTGGTGGAATGTGGGTTGAAAAGGTAACTTGGATTGTTTCACTGGCCACTGCCCTCACAGACCCTGCTGGCTTTAGTGTCTGGTAATGACAACCGTGGGCCCTTCGATGAAACTGTCCACAAAGGCTGTGGAGGTGCATAATATGCTTTATGAAGATTTGCCCAAGGCCTATTTGAATTTTTGTTGTTGTTGTTTAAATGAAGAGGAAACAATACTTAACCTGAAAATTTTACATGATACAGTTCAATTTCTGAAAATGCTAAGTGCATGACTATATTGGAAAGTTGTTTATACTGATAAAAATTCTGCTTACCAGACTTTCCAGTGCCAGAGATGAACAACCTGAATCGCTGATCAATACGTAGTTTACATTCTGTATTGGCTTCTTTCCTTCCTCTATGTGATTCATTTAAGAAAAAGTTTATTGTTTACACAAGCTGTGTGTGTTTGGCCTGAGAGATGCTGTACGGGATTGAACACATAGCTCATCCATTGGGTCTCTTGTTGTCCTCGGCGGGATCTGATGTGTCCTTGTTGAGGCTGCTCATTGGTGTCTCCTGTCCCACTGGCTCCAGCCTTCCTGACTTACTAAAGAACTCGCCACAGTTTGGAAATGTTTGTTTTACATGTGACCTGTGTAACATCTCTCCAGCTGGGGAGTTTCAGTACTTGCCTTTAATAATCCATAGATAGGCGCTTGTAAAGCCAGCTACTTGGGAGAGTGAGGAAGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCTGAGATCGTGCCACTGCATTCCAGTCTGGGTGACAGAGAGAGACTCCGTTTCAGGAAAAAAAAAAAAATCCACACATAATGTTTCTTGCTCACTTTCACAAGAGGTGGCTGGGCGAGGAGCTGTCCCCATTCCTCCTCTGGGATGGTCACTGTGCTGGTCTGTTGGGCCCTGCAGGTTCTCCAGCTCTATCAGATCACCCAGATCAATCATGGCCTGATGATGGTGGGGCCCTCGGGAAGTGGGAAGAGCATGGCCTGGCGTGTCCTGCTGAAGGCATTGGAGAGACTCGAGGGTGTGGAAGGTGTGGCCCATATCATCGACCCCAAGGCCATCAGCAAAGACCACCTCTACGGAACCCTGGACCCCAACACCAGGGAATGGACAGATGGGCTCTTCACACACGTGCTGAGAAAGTACGTCTTCTTTGATCTGTGTTTGTGTTCTCCTGGATATGGGCGCTAAGTACTTTGCTCTCACAAGAGCAGAGTATACGTTATTTTTCAACCAAAGTCTGAGCAAATTAAAGGTCATTTCAGAAACCATCATCGGTAAACATGCCTAATGTTAAAATCTTGATTTAATCAGCAGCTATTTTAAAATCCTTCCCAACCAGGATCATCGACAGCGTGAGAGGCGAGCTGCAGAAGCGCCAGTGGATCGTCTTCGATGGCGA
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Task1_train_20361
|
A sequence alteration has been identified in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Intellectual disability, autosomal dominant 13
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TGCGCCCAACATACCCATTATCGATTATGAGGTGAGCATGCAGCTACCACCCGTGTTTCTGATTCTCGCCTTGTTGATTTAACTCATCCTGGAACAAGCTGACCATGGACCTTGGCTTCGTCTTTTCATTTTATTCCATTTCATAGAAGGACTTTATCCTTTTAGTTCCATGTGTTAGCAAAGAGTGCAGATTAACCTGACCAATTACTTCCTTGTTCTGAAAGTTCAAGTTTGTGTTCAGGTAAACAAACCTCGTGAGGAGGCACCTTGGTTGCAGCCGGACTCACACTTCCATCTCCGTGTGTAGGTGTCCATCAGCGGAGAATGGTCTCCGTGGCAGGCCAAGGTGCCTCAGATTGAAGTGGAGACGCACAAGGTGGCAGCCCCTGATGTCGTCGTGCCAACGCTGGACACAGTCCGCCACGAAGCCCTCTTGTACACTTGGCTGGCCGAACACAAGCCCCTGGTCTTGTGTGGCCCTCCTGGGTCTGGCAAGACCATGACACTCTTCAGCGCCCTCCGGGCCTTGCCTGACATGGAGGTAAAGAGGCCAGGAGGTGGGCAGCAGACCTTTTGGTGCTGAGCATGGGGTTGGTCTTACAGTGTGGTTTTGTGTCTTCCCTCCAAAGGTGGTGGGTCTCAACTTCTCCAGTGCTACTACTCCAGAGCTGCTTCTGAAGACTTTTGATCACTACTGCGAGTACAGGCGCACACCTAATGGGGTGGTTTTGGCTCCTGTTCAACTTGGAAAGTGGCTGGTGTTGTTCTGTGATGAAATCAACTTGCCAGATATGGATAAATATGGGACCCAGAGGGTCATATCCTTCATCAGACAGGTTTGTTTCTATCCACAAGGCCCTTCCTGCCCCACAATGTTTCTTGTTCAAGTTTTGCTCTTAATGTGGTACCTGTCCCTTCCTTCAGATGGTGGAGCACGGAGGCTTTTACCGTACCTCAGATCAAACATGGGTGAAGCTGGAGAGAATCCAGTTTGTTGGGGCTTGTAATCCCCCCACAGACCCTGGAAGAAAGCCCCTCTCACACAGGTAAAACAGCTCGGTAGACTGCTCTGCTTCACACACGCACAGCTCCAGGATTGCTGTAAACACAGCGCCACAAAAACCTGGTTTTGATAATAAAGACAACAATACTGCTTATTGTGGATTCCTCTTGGGTTACTTCTCTGTGCTGTAATGCCAGGAAAACATGTTAAAAATAAAAGCATTGGCCGGGCGCAGTGGCTTACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAACACAGTGAAACCTCGTCTCTACTGAAAATACAAAAACAAAATTAAGGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCAGATCACGAGGTCAGGAGGTTGAGGCCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGCAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAATAAATAAATAAATAAAATAAAATGAAATAAAAGCATTGATCTCTTGGTAGTGATGAACTGCTCCAGACTCATCTGTAGAGCCAAGATGAGCCTGAAATAAGCCTTGGTTATTTTTTCATCTTTGCTGGTTTTTCAAGTGTTTTCCATCGACTGTTGTGTGTCAGACCCCAAGCCTGAGCAGCGTGTGTGTGATCTCAGCTAACACTGATGTCAAGTCTGCATAGCTGGGTTAGGAAGCGACCTCCAGACAGGGCCCTGGACAGGGCGACTCCACTGGCACACTGCCCCTTCCTGGGAGGCGCTGTCAGGGAGGGGCGCTGAGCGGGGCTATCTGTGCACAGGTTCCTGCGCCACGTGCCTGTCGTGTATGTGGATTACCCGGGCCCCGCCTCCCTCACACAGATCTACGGCACCTTCAACCGCGCCATGCTGAGGCTCATTCCATCCCTGCGGACGTATGCAGAGCCGCTCACTGCTGCCATGGTGGAGTTCTACACCATGTCTCAGGTACGCAGAGTTTCTTTGCTCTTCCAGAAATTGTTTTCCTCTCATAATTAAGGCACTCGATTGGTCAGGTGTGGTGGTTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCCTTTGAGCCCAGGAGTTTGAGACCAGTCTGGACAACATGGCAAAACCCTGTCTCTACAAAAAATAGGTGGGCGTGGTGGTGCATGCTTGTAATGTCAGCTTCCCAGGAGGCTGAGGTGGGAGAGTTGCTTGAACCTGGAGGCAGAGCTTACGATGAGCCATGATTGTGCCACTGCACCAGCCTGGGTGACAGAGTGAGACTCTACCTCAAAATAAAATGAGAAGTTTATTGAAATAAAGATTGGACTTTATTCAGAGATGTTATTGAGCCGAGAGACTTTCTCCAAGGTCTGTCATCAAAGTCACTTTTCTATGCAGGTGCTAAGACTGCTGACATTTCCATGCTTAATCATTATCCTATGCATGTGTATGTATGTGTATATGATGAAAATAGAGCCATACAGTTTCTAAATGTATATAAAGGCTGCATATCTGCCAGATTGCTCTCAAGATGGTTGGACCAGCTACGCCTCCACCAGCAGCACCCGCTTCCCTGTATTCTGCAACATTTAAAAAATAGTCATTAACAAAAATGTCTTTGCCCATTTGGTGAGAAATGACTCTCGTTGCTATTTGCATTTCTCTGTTGAGCCTCCCATGGAGCCGCTGGCTGCGGGGGATGAGTGGGAGCCGCCAACTGCCCTGCTGTGTCTCCCTCGCTCTTCATGCTTTGGGACAGCTTTCTTGTCATAGGTGGCAGATGCTTTTTCCCAGTATTTAATTTGCTTTTAAGTATTTTCAGAAGGATTTTTTGTAGTTTCATTGTTTAAATATTTAAATCGTTAAATATAATGTATTTCAGCATAAAGTGAGCAGCTTGAATCTAACTTTGTTCTGGACAGTTATTTATCCAATTGTTCCAACATTGTTTACTCATTTGGAGACGGAGTCTCACTCTGTCGCCAAGGCTGGAATGCAGTGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGTCCAGCTATCTTCTTAAATATTTCAGGGTCTAGGTTCTTTAATGTAAACATGTTTTGCCACATTTTACCTTTTGACCACTTCTCTGTGTCTTAAGATATTTACGTGTACCTTCCATTTTTCTCATTGCCATAGGAGAGATTCACCCAGGATACACAACCTCACTATATCTATTCACCCCGTGAAATGACTAGGTGGGTGAGAGGCATCTTTGAAGCGCTGAGACCTCTGGAGACCCTGCCTGTTGAAGGCCTCATTCGGATTTGGGCACATGAAGCTCTGCGTCTCTTCCAAGATAGGTAAGGGAAGCCGAGGATCCAGTTGGTCCCATTCTCCCCTGCTCTGAGTTCTTACAGCTGTCGAAGCTGGGGTCTTTGCAGGGGTGGTCTGCCTAAGTTAGAGCCAGGTGGTGCCAGTGGTGGAAGGAGCAGAGTCAGCCAGGGCAGCCTCCCGTCTGGACACTGGTCACAGTTGCCCCAGGGTAACAAAGTCACAGTGCGCTGAATGCACCGGCTGGCCCACCACTGTCTGCTTACACAAGGCACTTTCATAAACCTTGTGGCTGTGAACAGGGTACTTTTTTTTTTAAAGATACATCATAGAAGTCAAAAAACGGGGCACTTTAATAAACCTTTTAAACTGTCAGGTGGGACCACAAAAGGTAGCAGCTGCCTGTGATAACCTTACCAGAGCACGGGTTCACTGCTGAGTTAAAAGGTCTCCCAACAACTGCCCAGTGTGCGTGTTCCGTAACCACCACCCCTCTTCCTGTTTCTCAGTCTGTGTTCTCATCAAAG
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TGCGCCCAACATACCCATTATCGATTATGAGGTGAGCATGCAGCTACCACCCGTGTTTCTGATTCTCGCCTTGTTGATTTAACTCATCCTGGAACAAGCTGACCATGGACCTTGGCTTCGTCTTTTCATTTTATTCCATTTCATAGAAGGACTTTATCCTTTTAGTTCCATGTGTTAGCAAAGAGTGCAGATTAACCTGACCAATTACTTCCTTGTTCTGAAAGTTCAAGTTTGTGTTCAGGTAAACAAACCTCGTGAGGAGGCACCTTGGTTGCAGCCGGACTCACACTTCCATCTCCGTGTGTAGGTGTCCATCAGCGGAGAATGGTCTCCGTGGCAGGCCAAGGTGCCTCAGATTGAAGTGGAGACGCACAAGGTGGCAGCCCCTGATGTCGTCGTGCCAACGCTGGACACAGTCCGCCACGAAGCCCTCTTGTACACTTGGCTGGCCGAACACAAGCCCCTGGTCTTGTGTGGCCCTCCTGGGTCTGGCAAGACCATGACACTCTTCAGCGCCCTCCGGGCCTTGCCTGACATGGAGGTAAAGAGGCCAGGAGGTGGGCAGCAGACCTTTTGGTGCTGAGCATGGGGTTGGTCTTACAGTGTGGTTTTGTGTCTTCCCTCCAAAGGTGGTGGGTCTCAACTTCTCCAGTGCTACTACTCCAGAGCTGCTTCTGAAGACTTTTGATCACTACTGCGAGTACAGGCGCACACCTAATGGGGTGGTTTTGGCTCCTGTTCAACTTGGAAAGTGGCTGGTGTTGTTCTGTGATGAAATCAACTTGCCAGATATGGATAAATATGGGACCCAGAGGGTCATATCCTTCATCAGACAGGTTTGTTTCTATCCACAAGGCCCTTCCTGCCCCACAATGTTTCTTGTTCAAGTTTTGCTCTTAATGTGGTACCTGTCCCTTCCTTCAGATGGTGGAGCACGGAGGCTTTTACCGTACCTCAGATCAAACATGGGTGAAGCTGGAGAGAATCCAGTTTGTTGGGGCTTGTAATCCCCCCACAGACCCTGGAAGAAAGCCCCTCTCACACAGGTAAAACAGCTCGGTAGACTGCTCTGCTTCACACACGCACAGCTCCAGGATTGCTGTAAACACAGCGCCACAAAAACCTGGTTTTGATAATAAAGACAACAATACTGCTTATTGTGGATTCCTCTTGGGTTACTTCTCTGTGCTGTAATGCCAGGAAAACATGTTAAAAATAAAAGCATTGGCCGGGCGCAGTGGCTTACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAACACAGTGAAACCTCGTCTCTACTGAAAATACAAAAACAAAATTAAGGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCAGATCACGAGGTCAGGAGGTTGAGGCCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGCAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAATAAATAAATAAATAAAATAAAATGAAATAAAAGCATTGATCTCTTGGTAGTGATGAACTGCTCCAGACTCATCTGTAGAGCCAAGATGAGCCTGAAATAAGCCTTGGTTATTTTTTCATCTTTGCTGGTTTTTCAAGTGTTTTCCATCGACTGTTGTGTGTCAGACCCCAAGCCTGAGCAGCGTGTGTGTGATCTCAGCTAACACTGATGTCAAGTCTGCATAGCTGGGTTAGGAAGCGACCTCCAGACAGGGCCCTGGACAGGGCGACTCCACTGGCACACTGCCCCTTCCTGGGAGGCGCTGTCAGGGAGGGGCGCTGAGCGGGGCTATCTGTGCACAGGTTCCTGCGCCACGTGCCTGTCGTGTATGTGGATTACCCGGGCCCCGCCTCCCTCAAACAGATCTACGGCACCTTCAACCGCGCCATGCTGAGGCTCATTCCATCCCTGCGGACGTATGCAGAGCCGCTCACTGCTGCCATGGTGGAGTTCTACACCATGTCTCAGGTACGCAGAGTTTCTTTGCTCTTCCAGAAATTGTTTTCCTCTCATAATTAAGGCACTCGATTGGTCAGGTGTGGTGGTTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCCTTTGAGCCCAGGAGTTTGAGACCAGTCTGGACAACATGGCAAAACCCTGTCTCTACAAAAAATAGGTGGGCGTGGTGGTGCATGCTTGTAATGTCAGCTTCCCAGGAGGCTGAGGTGGGAGAGTTGCTTGAACCTGGAGGCAGAGCTTACGATGAGCCATGATTGTGCCACTGCACCAGCCTGGGTGACAGAGTGAGACTCTACCTCAAAATAAAATGAGAAGTTTATTGAAATAAAGATTGGACTTTATTCAGAGATGTTATTGAGCCGAGAGACTTTCTCCAAGGTCTGTCATCAAAGTCACTTTTCTATGCAGGTGCTAAGACTGCTGACATTTCCATGCTTAATCATTATCCTATGCATGTGTATGTATGTGTATATGATGAAAATAGAGCCATACAGTTTCTAAATGTATATAAAGGCTGCATATCTGCCAGATTGCTCTCAAGATGGTTGGACCAGCTACGCCTCCACCAGCAGCACCCGCTTCCCTGTATTCTGCAACATTTAAAAAATAGTCATTAACAAAAATGTCTTTGCCCATTTGGTGAGAAATGACTCTCGTTGCTATTTGCATTTCTCTGTTGAGCCTCCCATGGAGCCGCTGGCTGCGGGGGATGAGTGGGAGCCGCCAACTGCCCTGCTGTGTCTCCCTCGCTCTTCATGCTTTGGGACAGCTTTCTTGTCATAGGTGGCAGATGCTTTTTCCCAGTATTTAATTTGCTTTTAAGTATTTTCAGAAGGATTTTTTGTAGTTTCATTGTTTAAATATTTAAATCGTTAAATATAATGTATTTCAGCATAAAGTGAGCAGCTTGAATCTAACTTTGTTCTGGACAGTTATTTATCCAATTGTTCCAACATTGTTTACTCATTTGGAGACGGAGTCTCACTCTGTCGCCAAGGCTGGAATGCAGTGGCGCAGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGTCCAGCTATCTTCTTAAATATTTCAGGGTCTAGGTTCTTTAATGTAAACATGTTTTGCCACATTTTACCTTTTGACCACTTCTCTGTGTCTTAAGATATTTACGTGTACCTTCCATTTTTCTCATTGCCATAGGAGAGATTCACCCAGGATACACAACCTCACTATATCTATTCACCCCGTGAAATGACTAGGTGGGTGAGAGGCATCTTTGAAGCGCTGAGACCTCTGGAGACCCTGCCTGTTGAAGGCCTCATTCGGATTTGGGCACATGAAGCTCTGCGTCTCTTCCAAGATAGGTAAGGGAAGCCGAGGATCCAGTTGGTCCCATTCTCCCCTGCTCTGAGTTCTTACAGCTGTCGAAGCTGGGGTCTTTGCAGGGGTGGTCTGCCTAAGTTAGAGCCAGGTGGTGCCAGTGGTGGAAGGAGCAGAGTCAGCCAGGGCAGCCTCCCGTCTGGACACTGGTCACAGTTGCCCCAGGGTAACAAAGTCACAGTGCGCTGAATGCACCGGCTGGCCCACCACTGTCTGCTTACACAAGGCACTTTCATAAACCTTGTGGCTGTGAACAGGGTACTTTTTTTTTTAAAGATACATCATAGAAGTCAAAAAACGGGGCACTTTAATAAACCTTTTAAACTGTCAGGTGGGACCACAAAAGGTAGCAGCTGCCTGTGATAACCTTACCAGAGCACGGGTTCACTGCTGAGTTAAAAGGTCTCCCAACAACTGCCCAGTGTGCGTGTTCCGTAACCACCACCCCTCTTCCTGTTTCTCAGTCTGTGTTCTCATCAAAG
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Task1_train_20362
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This variant affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 13
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TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACG
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TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAATCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACG
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Task1_train_20363
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A mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACG
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TTCAGGTCACTGAACATTGCACATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAATCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACG
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Task1_train_20364
|
A mutation in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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ATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGG
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ATATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGTGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGG
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Task1_train_20365
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Mutation context: Chromosome 14, Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). 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 axonal type 2O
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TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGT
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TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCAGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGT
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Task1_train_20366
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Gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Intellectual disability, autosomal dominant 13
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TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGT
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TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCAGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGT
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Task1_train_20367
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This alteration occurs within gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
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Pathogenic; Intellectual disability
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TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGT
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TATGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCAGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGT
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Task1_train_20368
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A mutation found in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inborn genetic diseases
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TGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGC
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TGCTTCCCTCAAAGGTTCTGGTTTCCAAAAATATCATTAGTAACCATCTGAAGCTTTTTCTGAATGCTTGAGATTGTCTTCATCTCTCAAAGCAAAGTTCCTACAAAGCTAGATTGTATTTACCATAGTGAAACCCCTCTCATAAAAGAAACTTCACAATATAAGCTTTGTGTCAATATACGTTTTTAGAGATCTGTTGATAATTACGTAAGTATGCTATTTATCAATCCCTGACTTGAATTTCACCCAGAAATATAAAATATTCAGTGTAACTGTCTTGTAATTGTTTCTGAGTGTTCTAGCTATGACCCAATTGCTAATTTAAGTATTGATAGCAGTCACTTCTCTTTTTCCATTCCTTACATGCCTATAAGATGCTATAGAAATAGGGCAACAACCTGCCATCCTGTTTTAGTTTGCAATTTACACAGTGAGTAAGACTGCTCTCAGCCAGGCGAGGTGGCTCGCACTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGGCAGGAGGACCATTTGAACTTAGGAGTTTGTGACCAGCCTGGGCAACATAGCTAGACCCCCATCTCTATTTTAAAATAAATGAATAAATGAAAACAAAAGAAAAAAAAGAGTGCTTTCTTCTTGCCCACTGTATTTAACCTGTTTCAAATAACCCAATTATCTGTAGTTTTTACCTTATACAACAAGATGAATTCAAATGCACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGAAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGC
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Task1_train_20369
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This alteration occurs within gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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ACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGAT
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ACCACTCAACCTATATATTTTCATTCAGAGTTGGATTTGGATGATAATTTAATGTAGTTCTCACCTTCTAAATATTACTTAAAATTGTTTTACAAAAATTTCAGCCTAGAAAACTATTTTAGTGTATAGAAGTCATTGGCCATTGTTTTTGTTTTGCTTTGTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGTAGTGGTGCAACCATGGCTCACTGTAGCCTCAGCCTTCCCTGTTTCAGATGATCCTCCCACCTGAGCCTCCTGAGTAGCTGGAACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCAGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGAT
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Task1_train_20370
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A variant affecting Chromosome 14, within the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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ACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACA
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ACTATAGGTGCGCGCCGCCACACCCAGCTAATTTTTGTATTTTTTGTGGAGTCAGGGTTTTGCCATATTGCCCAGGCTGGTTTCAAACTGCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCAGAAGTACTAAGATGTGTGAGCCACTGTGCCTGGCAGCCATTGTTTTAGAACTGTTAACTCCACGTCTTTACGCATCCCTCTAAATTGTAGCAAATTTAAAATGTCTGTTGAAATTATATAAAATAAATGCACAATTGCACTTAAAATATTTTGTAAAATATTTTTTTAAAATATTTTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGCGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGGAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGAAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACA
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Task1_train_20371
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Here’s a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Spinal muscular atrophy with lower extremity predominance
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ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACAGCCTGTGCGCAGGGCTGGATTTGCCTAAATGACCCTTTGACCTAGGAGTTCCACTTCTAGGTGTTCATTCAACAGTAGCCTGGCCTAGGTACAGAATGTGTGTAGGTACCAAGTGTGTACCAGCTGAAGACTGGAGATAACTCAGATGGCCCTCCTGAGGGCCCACCACGCCGTGGTGCTGGGTAGTCTTTGCCAACACAGGACATTCGAATACAGGCTGGACAGGTGCAGAGCGGACAGTAGAGGCCTCCCACGAGGCCACAACTCCCACACTGACACATGTGTCTGTAAATGCTTAGACCTTCTCTGTAAAGACAGGCGAAAAACTGGTAAAAGCCATCACCTGGGCAAGGGACTTTGGTGACCAAAGAATAGGGTCAGAAAGGCAGGGCAGCATGGTTCTTCTCACCATATGCCCTTTTATAGTTGAGTTTTGTAAAAGCTTGTGTGTATATTACCAGTTGGGTTTTTTTTTAACGTTTTAACTGGCTAGACCGTAGGTAGATCACATTAGCTTATTTGTGTCCTTTCCTCATTTGTAGAATGGTTCGATAACAGTGTCA
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ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACTGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACAGCCTGTGCGCAGGGCTGGATTTGCCTAAATGACCCTTTGACCTAGGAGTTCCACTTCTAGGTGTTCATTCAACAGTAGCCTGGCCTAGGTACAGAATGTGTGTAGGTACCAAGTGTGTACCAGCTGAAGACTGGAGATAACTCAGATGGCCCTCCTGAGGGCCCACCACGCCGTGGTGCTGGGTAGTCTTTGCCAACACAGGACATTCGAATACAGGCTGGACAGGTGCAGAGCGGACAGTAGAGGCCTCCCACGAGGCCACAACTCCCACACTGACACATGTGTCTGTAAATGCTTAGACCTTCTCTGTAAAGACAGGCGAAAAACTGGTAAAAGCCATCACCTGGGCAAGGGACTTTGGTGACCAAAGAATAGGGTCAGAAAGGCAGGGCAGCATGGTTCTTCTCACCATATGCCCTTTTATAGTTGAGTTTTGTAAAAGCTTGTGTGTATATTACCAGTTGGGTTTTTTTTTAACGTTTTAACTGGCTAGACCGTAGGTAGATCACATTAGCTTATTTGTGTCCTTTCCTCATTTGTAGAATGGTTCGATAACAGTGTCA
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Task1_train_20372
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The gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACAGCCTGTGCGCAGGGCTGGATTTGCCTAAATGACCCTTTGACCTAGGAGTTCCACTTCTAGGTGTTCATTCAACAGTAGCCTGGCCTAGGTACAGAATGTGTGTAGGTACCAAGTGTGTACCAGCTGAAGACTGGAGATAACTCAGATGGCCCTCCTGAGGGCCCACCACGCCGTGGTGCTGGGTAGTCTTTGCCAACACAGGACATTCGAATACAGGCTGGACAGGTGCAGAGCGGACAGTAGAGGCCTCCCACGAGGCCACAACTCCCACACTGACACATGTGTCTGTAAATGCTTAGACCTTCTCTGTAAAGACAGGCGAAAAACTGGTAAAAGCCATCACCTGGGCAAGGGACTTTGGTGACCAAAGAATAGGGTCAGAAAGGCAGGGCAGCATGGTTCTTCTCACCATATGCCCTTTTATAGTTGAGTTTTGTAAAAGCTTGTGTGTATATTACCAGTTGGGTTTTTTTTTAACGTTTTAACTGGCTAGACCGTAGGTAGATCACATTAGCTTATTTGTGTCCTTTCCTCATTTGTAGAATGGTTCGATAACAGTGTCA
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ACAGAGCTAGACTCAGTCTCAAATAAATAGTAAATATATTCTTAATCTTTATGGGGATAAAGAAATTAGGACTTGTGAGACATTTTAAAGGTAATATCCTGCTTTTTAAGGAATGCTAGCATTTTGTAAGATCTTCATAATCATTTAAGAGATCAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACTGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACAGCCTGTGCGCAGGGCTGGATTTGCCTAAATGACCCTTTGACCTAGGAGTTCCACTTCTAGGTGTTCATTCAACAGTAGCCTGGCCTAGGTACAGAATGTGTGTAGGTACCAAGTGTGTACCAGCTGAAGACTGGAGATAACTCAGATGGCCCTCCTGAGGGCCCACCACGCCGTGGTGCTGGGTAGTCTTTGCCAACACAGGACATTCGAATACAGGCTGGACAGGTGCAGAGCGGACAGTAGAGGCCTCCCACGAGGCCACAACTCCCACACTGACACATGTGTCTGTAAATGCTTAGACCTTCTCTGTAAAGACAGGCGAAAAACTGGTAAAAGCCATCACCTGGGCAAGGGACTTTGGTGACCAAAGAATAGGGTCAGAAAGGCAGGGCAGCATGGTTCTTCTCACCATATGCCCTTTTATAGTTGAGTTTTGTAAAAGCTTGTGTGTATATTACCAGTTGGGTTTTTTTTTAACGTTTTAACTGGCTAGACCGTAGGTAGATCACATTAGCTTATTTGTGTCCTTTCCTCATTTGTAGAATGGTTCGATAACAGTGTCA
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Task1_train_20373
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This is a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located on Chromosome 14. Is this mutation a likely cause of disease or not?
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Pathogenic; Intellectual disability, autosomal dominant 13
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CAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACAGCCTGTGCGCAGGGCTGGATTTGCCTAAATGACCCTTTGACCTAGGAGTTCCACTTCTAGGTGTTCATTCAACAGTAGCCTGGCCTAGGTACAGAATGTGTGTAGGTACCAAGTGTGTACCAGCTGAAGACTGGAGATAACTCAGATGGCCCTCCTGAGGGCCCACCACGCCGTGGTGCTGGGTAGTCTTTGCCAACACAGGACATTCGAATACAGGCTGGACAGGTGCAGAGCGGACAGTAGAGGCCTCCCACGAGGCCACAACTCCCACACTGACACATGTGTCTGTAAATGCTTAGACCTTCTCTGTAAAGACAGGCGAAAAACTGGTAAAAGCCATCACCTGGGCAAGGGACTTTGGTGACCAAAGAATAGGGTCAGAAAGGCAGGGCAGCATGGTTCTTCTCACCATATGCCCTTTTATAGTTGAGTTTTGTAAAAGCTTGTGTGTATATTACCAGTTGGGTTTTTTTTTAACGTTTTAACTGGCTAGACCGTAGGTAGATCACATTAGCTTATTTGTGTCCTTTCCTCATTTGTAGAATGGTTCGATAACAGTGTCAGCCTCATAGGGCTGTTATGAGGATTACGTGACGTAGTGTCTGTAATTTGACACGGTCCTTGGCAATTAAAATTCTGTATAATGTTAATCCCTTGCTGCTGCGACATCATTGATGTTGATACGTGCTGTCTAGAAGGATCGTAAACATGAAAAA
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CAGCTACTTACCCTATTCCAGAGGGTTTAATACAGAAAAGTCTCTCATTTCTTAGCTCTTCTAAGCAGCTAGCTGTCCTTTCTCTCATTGGAGTTGGAGCTCCTGGCTGTTTTGGTTCATTCTCACCATGCTTTGCTCTATCTTCTCCCACCCATCGACCCTCATCCACTCCTGCTGCCACTCAGCTGTGAAGTCGATCAAGAAGCAGCACCTGGTGGAGGTGAGGTCCATGGCCAACCCTCCTGCTGCTGTGAAGCTGGCGCTGGAGTCCATCTGCCTGCTGCTGGGGGAAAGCACCACAGACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCTCTGCAGAGGAGATCAGGTGAGAAAGTGGAAGTGCCAAGGTATTGCCAGAAATTGAAATCAGTTGTTCAGGCCAGGCACGGTGGCTCACGCCTCCAATCCCAGAACTTTCGGCTGTTCAGGCCAGGCACAGTGGCTCACGGCTCCAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGAAGTGCTTGAGCCTAGGAGTTAGAGACCAACCTGGGCTACATGGCGACACCCTGTCTCTACAAAAAAATACAAAAATGAGCTGGGCGGGGTGGCATGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAACCCAGGGGATCAAGGCTTCAGTGAACCGAGATCACACCACCGCACTCCAGCCTGGGTGACAGAGAAAAACCCTGTCTCATTAAAAAAGAAGAAAGAAAAAAATTGTTCAAGTGTTGAGCACATTTTCAGCTTTCACCTGAGAACCAAGGGTCAGTCTAGCTCATCCCCAGTGGTCAGTCACTGGGGCAATGAGATGGGAGCTGGCTCTGGTCTCTTCCATTTTAATTTTATGAAAACTCTTCCTTGCTTTTGTCCTGCATGTGTTTAGAAATATCATTCGTCTTTTACAGTGACGCCATAAGGGAGAAGATGAAGAAAAATTACATGTCCAATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAAATGGGCAATTGCACAGGTGATTAACACAGCCAGGAGCTCCCGTGTGAAAGGTGACCTCTTTTCCTGTCACTTAAATAACAGTTATCAATTGGTTCTTCCCAGCTTAACTATGCAGACATGTTAAAGAGAGTGGAGCCCCTACGCAATGAGCTGCAGAAGCTGGAAGATGACGCCAAGGACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGGCCATCAAGGCAGACCTGGCAGCTGTCGAGGCAAAAGTAAGATTATCATCATTGATCCTCAGCCTTTCCTGCTGTGGAAGCAGAGATTAACACACTTCAACATGCGCTGCATGCACCATGCTGGCCTCGGTGAATTCGCTCTTTAACATCTGTAAGGCCCCGGAGGACTTTTTTCCTGGAAAATAATACACACTGAGTAGTCACTAAGTGTTGTTAATTAGGATAGATTGATACAAACTGGACACTTTTCAGCCGTTGAATCCCCCACCAGCAGCTCCAGACCTGTTTGCTCTGCTGCCTGAGGGCCTCGCTCCGTACCCAGCTTCTGCCCCGCTGAGATTCTGAGTCGTGTGTGGTCATTAGTTATATATGATCTGGGTCTCATCTCCTCTGGGACTGTGAACAACTTGGGCACGTTTCTAACCCACCCAAAACCCTGCACATAATGTGGATGAACCGATTTGCAGGATTCGGTATAAATCCTGAAAGGCCTCATCCCTGAGCATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTGCTGAACGTGAACGATGGGAAAAAACAAGTGAAACTTTCAAAAACCAGATGTCCACCATTGCTGGGGACTGTCTCTTGTCAGCTGCGTTCATTGCCTACGCGGGTTACTTTGACCAGCAGATGTGTCAGAACTTGTTCACTACCTGGTCCCATCACCTACAGCAAGCCAACATCCAGGTGAGAATCACGGGGAGTTCAAAAAGGATGTGCGAGCAGTGTGAGGCAAGCTGGTGTTTAGTGCACAGTTAGAGTCTTGAGAACAGTCCCATCTGTGGCTGTGAAGAGGAGGAAAGGTAACGGCCTTGCCTTTCAGTTCCGTACAGATATTGCCAGGACGGAATACCTTTCCAATGCTGATGAGCGTCTTCGCTGGCAGGCCAGCTCCTTGCCTGCTGATGACCTTTGCACAGAAAATGCCATCATGCTGAAACGATTCAATAGGTATGAGCTCGGGTGCCAAGGAGAGGCATGGGAGGAATGTGGGTGGTGATCTTGAATTTTTTTCAAAATACACCCTTGTTTGAAGAGAGGAATAGAAAATGGGGCGTGGGCATACAGTGCTGGCAGCTTGGTGCTCCTCTGATGGTGGGGCGTGTGCTGTTCTCGTTATTGTCAAGTGTCTGAGTTATTCTGCAGTGAATGCTTCTTGTAACCTTCTAAAATCGATTGGCAGGGGCCAGGCACAGTGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCATGCGCCTGTAATCCCAGTTACTCAGGAGGCTGAGACAGGAAAATCTCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACCCCAGCCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAACATAAAAATAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAAGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAAACCCTATATCTATTAAAAACACAGAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGCGACAGCACAAGACTCCGTCTCAAAAAAATAAAAATAAAGTGGATTGGCAGGGTTGTGTTTGGGGGTGGACATTCAAACAAACAGTCCTCTGTTACAAGAACTGAAAATAGCTAGTTAAAGGGGAAGTACTACCTGTTTTTCTGCTTAGGAAAGACAGAATAAGAAATGGGATGTAACTGCAGTGAAGATGGGCTAGGTGCCGAGAGGGTTCCACGTCTCACCGGGTGGTGCCAGCAAGAGTATGAATCAATCAGTACAGCCTGTGCGCAGGGCTGGATTTGCCTAAATGACCCTTTGACCTAGGAGTTCCACTTCTAGGTGTTCATTCAACAGTAGCCTGGCCTAGGTACAGAATGTGTGTAGGTACCAAGTGTGTACCAGCTGAAGACTGGAGATAACTCAGATGGCCCTCCTGAGGGCCCACCACGCCGTGGTGCTGGGTAGTCTTTGCCAACACAGGACATTCGAATACAGGCTGGACAGGTGCAGAGCGGACAGTAGAGGCCTCCCACGAGGCCACAACTCCCACACTGACACATGTGTCTGTAAATGCTTAGACCTTCTCTGTAAAGACAGGCGAAAAACTGGTAAAAGCCATCACCTGGGCAAGGGACTTTGGTGACCAAAGAATAGGGTCAGAAAGGCAGGGCAGCATGGTTCTTCTCACCATATGCCCTTTTATAGTTGAGTTTTGTAAAAGCTTGTGTGTATATTACCAGTTGGGTTTTTTTTTAACGTTTTAACTGGCTAGACCGTAGGTAGATCACATTAGCTTATTTGTGTCCTTTCCTCATTTGTAGAATGGTTCGATAACAGTGTCAGCCTCATAGGGCTGTTATGAGGATTACGTGACGTAGTGTCTGTAATTTGACACGGTCCTTGGCAATTAAAATTCTGTATAATGTTAATCCCTTGCTGCTGCGACATCATTGATGTTGATACGTGCTGTCTAGAAGGATCGTAAACATGAAAAA
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Task1_train_20374
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This variant lies on Chromosome 14 and affects the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Intellectual disability, autosomal dominant 13
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GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTACAGTAAACCCCATGACAAGTTTACCTATGTAACAAACCTGCACTTGTATTTCTGAACTTAAAAGTTAAAAATGTGTTTTTAAATAAAGCATGTAAGGTCACTAGGAAGCATCAGATTTGCAACGAGATGAATTCATTATGCAAATGGAAAAAAATTTTTAAGAAATGAAATAAAATGCCATTCCAAGGGTCTGTGTCAGCACTGTCCCCAGAACTTTCTGCAGGGGCAGGAATGCCTTATGGTCCACACTGTCCAGTGTGGTAGCCACTAGCCTTGGGGGCTACTGAGCACTTCCCATGGCTAGTGTGACTAGGAACTGAGTTTTAATTTTTTATTTTATGTTTTTTTGAGACAGAGTGTTGCTCTGTCCCCCAGTCTGAACCTCCCAGGTTCAAGCAATTCTGTCTCAGCCTCCCAGGTAGCTGGGACTACAGGCATGTGCCATACACCCCCAGCTAACTTTCGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCATCTGGCTGAGTTTTTAATTTTAGTTCATTTAAATGTAAGTAGCCACACATAGCTAGTGGCCACCACACGCAAGTGGCGGGTGGCTTTTGGGAAGGTATGCTTATCCAGAGTAGGACAGCAACATAGCATTTGGGTGAAGATAAAGTTACAAAGCCCTGACCATCAAGTTCCACCCGTGTGGAATGCAGGATGTGGAAAGCTACGATCCAGTTTTGAACCCGGTGCTGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATCACTCTCGGGGACCAGGACATAGACCTGTCGCCATCGTTTGTCATCTTCCTGTCCACCCGGGATCCAACTGTAAGGAATGGGACCCTTCCCCAGGGAAATCTGGCAGGATGTGGTTTTGAAACTGGATTAAGACAGACTGTTCTGTTACCTATTTTGGCAGGTCGAGTTCCCACCAGATCTCTGTTCCCGGGTTACTTTTGTAAACTTCACAGTTACCCGTAGCAGTTTACAAAGCCAGTGTCTAAATGAAGTACTTAAAGCAGAAAGACCTGATGTGGACGAGAAACGATCTGATCTTCTTAAACTTCAAGGTAGGATCTGGACCTGTGGCTTTTAGATGGTTGGTGCAGGGGAAGGGGCTGAACTTTTAAGTGACTAGGATGTTCCACGTTTGTGGCAAACACTTCTGAGAGCATACCTTTTGAAGGATTATTGCAAACTCTGGATGTTTTATTCATTTAAGGGGAATTTCAGCTCCGTTTGCGTCAGCTGGAAAAATCTCTACTACAAGCTCTGAACGAGGTGAAAGGGCGCATTTTGGATGACGACACGATCATAACCACTCTGGAGAACCTGAAGAGAGAGGCTGCAGAGGTCACCAGGAAAGTTGAGGAGACGGACATTGTCATGCAGGAGGTGGAGACCGTGTCCCAGCAGTACCTCCCGCTCTCCACCGCCTGCAGCAGCATCTACTTCACCATGGAGTCCCTCAAGCAGGTGGGTGCCTTGGCCATGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGCACAGAGGCTGGCGGGCCCTGCACAGTAGCTCCTTGGCCACGCAGAAGTTCAGCGGGGTGCCGAGGGAGCTGCCTCACCGCTGCCCACTGCTTCCTTTCAGATACACTTCTTGTACCAGTACTCCCTCCAGTTTTTCCTGGACATTTATCACAACGTCCTATACGAGAACCCGAACCTGAAGGGTGTCACCGACCACACACAGCGCCTGTCCATTATAACAAAGGACCTCTTCCAGGTAGAGTGAGGTCCTCAGCCGCTCCCTGGCGGGGGGGAAGCAGGGTGCTGCTTCTCTTATGGAACAACATCGTCTCCTGCTCTTGTCCCAGGTGGCGTTTAACCGAGTGGCTCGAGGCATGCTGCATCAGGACCACATTACCTTTGCCATGCTGCTGGCAAGAATCAAACTGAAGGGCACCGTGGGGTAAGAGCACTCACGCCCACAGGAGGATGCCATATTGCTGGTGGCCCCCAAGGGTTTCATGATCAGATACATGCTTTTATTATTTCTTTTATTTTCTCTTTTATTTTCTTTATTTTATTTTTTGAGACGGAGTCTCCCTTTGTTGCCTAGGCTGGAGTGCCGTGGTGTAATCTCACCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCTTCAGTCTCCGAAGTAGCTAGGACTATAGGCGCAGGCCACCACATCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCTTCATGTTGGCAGCCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGAGATTATAGGCCTGAGCCACTGTGCCCGGCCTGTTTTCTCTTTTCTTAAATCACAGCTGTTATCTTAGTGACAGTGGGAGTGAACGTGAGAGACCCTAGCTAACCTGTTGCACCCTTCGCAGGGAGCCCACCTACGATGCAGAATTCCAGCACTTCTTGAGAGGAAATGAGATTGTCCTGAGTGCTGGCTCCACCCCCAGGATCCAGGGCCTGACTGTGGAGCAGGCGGAGGCGGTGGTGAGGCTGAGCTGCCTTCCCGCGTTTAAGGACTTGATTGCAAAGGTTCAGGCAGACGAGGTGATTGTTCTCTTGAATGTTCCCAGTAGGTAAATGTTGGCCTTTTCCCAGGAAATGTAAGGAATTGCATGTGGTATAAAACCCAGAATGTTGTGTCTGCGCTCTCGCGTCAGACTCTCGCTCAGTCGTGGGTTCTGCCCCAGAGGCCAGCCCTGCTCCATGGGTGCTTCCACTATTGTCTCCACAGCAATTTGGCATCTGGCTGGACAGCAGCTCCCCGGAGCAGACTGTGCCCTACCTCTGGAGTGAAGAAACACCTGCAAGTAAGCCCCACTGTGGTTTTCTTTCTGGACCTGAATGTAAAGTTGGGTTTTGCTGCTTAAAGGGATGCTTTCAAAAAACACAAAGTTACTAGCCTGGGCAACATAGTAAGGCCCCATCTCTACAAAAAATAAAACCTTAGCCAGGCGTGGCGGTGCACACCTGTAGTCCCATCTACTCGGGAGGCTAAAGCAGGAAGGTCACTTGAGCCTGGGAGGTCGAGGTTGTGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGGCAGCAGACAGAGGCCTGTCTGTGAATGAATGGTCACTGATTCCCAAGATAAGTATTTCAATGTTAAAACTTTTTAAGGAAACCACTTAGGGAGATCGCTTCTAGGTAGGTGTTGGCTTAGAAGTAAATCAGAAATTTCCAATTCCTATTCATCTCATGCTTAAAGACCACAAGAGAACTAGATGGGGAACTCCTGCCTAATGCTAAGGAGTTAACTGGCTGTATTCATGCTGCAGACAGGAATGGAATGCCATCAGCCGTTTTTGAGTGTGTTAGGCCAGACCCTGGGCTAGCCAGGCTGAGAGGAAGTGTCAGACTGTGGAGGGCAGAGCGTGGAGCCCCCTTCCTGAGTACCTTCAGGTGTTCTCAGGAAGTGAGCAGGTATTAGTTTAGTAATCTAAAAATCAGCAAATGGCACCTTTGTCCTATGGATACATCCAGGTAGTAAGGTGTTCTCACAGGCGTGTCCAGAGGGCTCACGGAAGGCACAGCAGATGTGGCTGAATTTCCTGATTTGAGCTGATCCTGA
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GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTACAGTAAACCCCATGACAAGTTTACCTATGTAACAAACCTGCACTTGTATTTCTGAACTTAAAAGTTAAAAATGTGTTTTTAAATAAAGCATGTAAGGTCACTAGGAAGCATCAGATTTGCAACGAGATGAATTCATTATGCAAATGGAAAAAAATTTTTAAGAAATGAAATAAAATGCCATTCCAAGGGTCTGTGTCAGCACTGTCCCCAGAACTTTCTGCAGGGGCAGGAATGCCTTATGGTCCACACTGTCCAGTGTGGTAGCCACTAGCCTTGGGGGCTACTGAGCACTTCCCATGGCTAGTGTGACTAGGAACTGAGTTTTAATTTTTTATTTTATGTTTTTTTGAGACAGAGTGTTGCTCTGTCCCCCAGTCTGAACCTCCCAGGTTCAAGCAATTCTGTCTCAGCCTCCCAGGTAGCTGGGACTACAGGCATGTGCCATACACCCCCAGCTAACTTTCGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCATCTGGCTGAGTTTTTAATTTTAGTTCATTTAAATGTAAGTAGCCACACATAGCTAGTGGCCACCACACGCAAGTGGCGGGTGGCTTTTGGGAAGGTATGCTTATCCAGAGTAGGACAGCAACATAGCATTTGGGTGAAGATAAAGTTACAAAGCCCTGACCATCAAGTTCCACCCGTGTGGAATGCAGGATGTGGAAAGCTACGATCCAGTTTTGAACCCGGTGCTGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATCACTCTCGGGGACCAGGACATAGACCTGTCGCCATCGTTTGTCATCTTCCTGTCCACCCGGGATCCAACTGTAAGGAATGGGACCCTTCCCCAGGGAAATCTGGCAGGATGTGGTTTTGAAACTGGATTAAGACAGACTGTTCTGTTACCTATTTTGGCAGGTCGAGTTCCCACCAGATCTCTGTTCCCGGGTTACTTTTGTAAACTTCACAGTTACCCGTAGCAGTTTACAAAGCCAGTGTCTAAATGAAGTACTTAAAGCAGAAAGACCTGATGTGGACGAGAAACGATCTGATCTTCTTAAACTTCAAGGTAGGATCTGGACCTGTGGCTTTTAGATGGTTGGTGCAGGGGAAGGGGCTGAACTTTTAAGTGACTAGGATGTTCCACGTTTGTGGCAAACACTTCTGAGAGCATACCTTTTGAAGGATTATTGCAAACTCTGGATGTTTTATTCATTTAAGGGGAATTTCAGCTCCGTTTGCGTCAGCTGGAAAAATCTCTACTACAAGCTCTGAACGAGGTGAAAGGGCGCATTTTGGATGACGACACGATCATAACCACTCTGGAGAACCTGAAGAGAGAGGCTGCAGAGGTCACCAGGAAAGTTGAGGAGACGGACATTGTCATGCAGGAGGTGGAGACCGTGTCCCAGCAGTACCTCCCGCTCTCCACCGCCTGCAGCAGCATCTACTTCACCATGGAGTCCCTCAAGCAGGTGGGTGCCTTGGCCATGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGCACAGAGGCTGGCGGGCCCTGCACAGTAGCTCCTTGGCCACGCAGAAGTTCAGCGGGGTGCCGAGGGAGCTGCCTCACCGCTGCCCACTGCTTCCTTTCAGATACCCTTCTTGTACCAGTACTCCCTCCAGTTTTTCCTGGACATTTATCACAACGTCCTATACGAGAACCCGAACCTGAAGGGTGTCACCGACCACACACAGCGCCTGTCCATTATAACAAAGGACCTCTTCCAGGTAGAGTGAGGTCCTCAGCCGCTCCCTGGCGGGGGGGAAGCAGGGTGCTGCTTCTCTTATGGAACAACATCGTCTCCTGCTCTTGTCCCAGGTGGCGTTTAACCGAGTGGCTCGAGGCATGCTGCATCAGGACCACATTACCTTTGCCATGCTGCTGGCAAGAATCAAACTGAAGGGCACCGTGGGGTAAGAGCACTCACGCCCACAGGAGGATGCCATATTGCTGGTGGCCCCCAAGGGTTTCATGATCAGATACATGCTTTTATTATTTCTTTTATTTTCTCTTTTATTTTCTTTATTTTATTTTTTGAGACGGAGTCTCCCTTTGTTGCCTAGGCTGGAGTGCCGTGGTGTAATCTCACCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCTTCAGTCTCCGAAGTAGCTAGGACTATAGGCGCAGGCCACCACATCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCTTCATGTTGGCAGCCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGAGATTATAGGCCTGAGCCACTGTGCCCGGCCTGTTTTCTCTTTTCTTAAATCACAGCTGTTATCTTAGTGACAGTGGGAGTGAACGTGAGAGACCCTAGCTAACCTGTTGCACCCTTCGCAGGGAGCCCACCTACGATGCAGAATTCCAGCACTTCTTGAGAGGAAATGAGATTGTCCTGAGTGCTGGCTCCACCCCCAGGATCCAGGGCCTGACTGTGGAGCAGGCGGAGGCGGTGGTGAGGCTGAGCTGCCTTCCCGCGTTTAAGGACTTGATTGCAAAGGTTCAGGCAGACGAGGTGATTGTTCTCTTGAATGTTCCCAGTAGGTAAATGTTGGCCTTTTCCCAGGAAATGTAAGGAATTGCATGTGGTATAAAACCCAGAATGTTGTGTCTGCGCTCTCGCGTCAGACTCTCGCTCAGTCGTGGGTTCTGCCCCAGAGGCCAGCCCTGCTCCATGGGTGCTTCCACTATTGTCTCCACAGCAATTTGGCATCTGGCTGGACAGCAGCTCCCCGGAGCAGACTGTGCCCTACCTCTGGAGTGAAGAAACACCTGCAAGTAAGCCCCACTGTGGTTTTCTTTCTGGACCTGAATGTAAAGTTGGGTTTTGCTGCTTAAAGGGATGCTTTCAAAAAACACAAAGTTACTAGCCTGGGCAACATAGTAAGGCCCCATCTCTACAAAAAATAAAACCTTAGCCAGGCGTGGCGGTGCACACCTGTAGTCCCATCTACTCGGGAGGCTAAAGCAGGAAGGTCACTTGAGCCTGGGAGGTCGAGGTTGTGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGGCAGCAGACAGAGGCCTGTCTGTGAATGAATGGTCACTGATTCCCAAGATAAGTATTTCAATGTTAAAACTTTTTAAGGAAACCACTTAGGGAGATCGCTTCTAGGTAGGTGTTGGCTTAGAAGTAAATCAGAAATTTCCAATTCCTATTCATCTCATGCTTAAAGACCACAAGAGAACTAGATGGGGAACTCCTGCCTAATGCTAAGGAGTTAACTGGCTGTATTCATGCTGCAGACAGGAATGGAATGCCATCAGCCGTTTTTGAGTGTGTTAGGCCAGACCCTGGGCTAGCCAGGCTGAGAGGAAGTGTCAGACTGTGGAGGGCAGAGCGTGGAGCCCCCTTCCTGAGTACCTTCAGGTGTTCTCAGGAAGTGAGCAGGTATTAGTTTAGTAATCTAAAAATCAGCAAATGGCACCTTTGTCCTATGGATACATCCAGGTAGTAAGGTGTTCTCACAGGCGTGTCCAGAGGGCTCACGGAAGGCACAGCAGATGTGGCTGAATTTCCTGATTTGAGCTGATCCTGA
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Task1_train_20375
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Here’s a variant in DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2O
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GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTACAGTAAACCCCATGACAAGTTTACCTATGTAACAAACCTGCACTTGTATTTCTGAACTTAAAAGTTAAAAATGTGTTTTTAAATAAAGCATGTAAGGTCACTAGGAAGCATCAGATTTGCAACGAGATGAATTCATTATGCAAATGGAAAAAAATTTTTAAGAAATGAAATAAAATGCCATTCCAAGGGTCTGTGTCAGCACTGTCCCCAGAACTTTCTGCAGGGGCAGGAATGCCTTATGGTCCACACTGTCCAGTGTGGTAGCCACTAGCCTTGGGGGCTACTGAGCACTTCCCATGGCTAGTGTGACTAGGAACTGAGTTTTAATTTTTTATTTTATGTTTTTTTGAGACAGAGTGTTGCTCTGTCCCCCAGTCTGAACCTCCCAGGTTCAAGCAATTCTGTCTCAGCCTCCCAGGTAGCTGGGACTACAGGCATGTGCCATACACCCCCAGCTAACTTTCGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCATCTGGCTGAGTTTTTAATTTTAGTTCATTTAAATGTAAGTAGCCACACATAGCTAGTGGCCACCACACGCAAGTGGCGGGTGGCTTTTGGGAAGGTATGCTTATCCAGAGTAGGACAGCAACATAGCATTTGGGTGAAGATAAAGTTACAAAGCCCTGACCATCAAGTTCCACCCGTGTGGAATGCAGGATGTGGAAAGCTACGATCCAGTTTTGAACCCGGTGCTGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATCACTCTCGGGGACCAGGACATAGACCTGTCGCCATCGTTTGTCATCTTCCTGTCCACCCGGGATCCAACTGTAAGGAATGGGACCCTTCCCCAGGGAAATCTGGCAGGATGTGGTTTTGAAACTGGATTAAGACAGACTGTTCTGTTACCTATTTTGGCAGGTCGAGTTCCCACCAGATCTCTGTTCCCGGGTTACTTTTGTAAACTTCACAGTTACCCGTAGCAGTTTACAAAGCCAGTGTCTAAATGAAGTACTTAAAGCAGAAAGACCTGATGTGGACGAGAAACGATCTGATCTTCTTAAACTTCAAGGTAGGATCTGGACCTGTGGCTTTTAGATGGTTGGTGCAGGGGAAGGGGCTGAACTTTTAAGTGACTAGGATGTTCCACGTTTGTGGCAAACACTTCTGAGAGCATACCTTTTGAAGGATTATTGCAAACTCTGGATGTTTTATTCATTTAAGGGGAATTTCAGCTCCGTTTGCGTCAGCTGGAAAAATCTCTACTACAAGCTCTGAACGAGGTGAAAGGGCGCATTTTGGATGACGACACGATCATAACCACTCTGGAGAACCTGAAGAGAGAGGCTGCAGAGGTCACCAGGAAAGTTGAGGAGACGGACATTGTCATGCAGGAGGTGGAGACCGTGTCCCAGCAGTACCTCCCGCTCTCCACCGCCTGCAGCAGCATCTACTTCACCATGGAGTCCCTCAAGCAGGTGGGTGCCTTGGCCATGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGCACAGAGGCTGGCGGGCCCTGCACAGTAGCTCCTTGGCCACGCAGAAGTTCAGCGGGGTGCCGAGGGAGCTGCCTCACCGCTGCCCACTGCTTCCTTTCAGATACACTTCTTGTACCAGTACTCCCTCCAGTTTTTCCTGGACATTTATCACAACGTCCTATACGAGAACCCGAACCTGAAGGGTGTCACCGACCACACACAGCGCCTGTCCATTATAACAAAGGACCTCTTCCAGGTAGAGTGAGGTCCTCAGCCGCTCCCTGGCGGGGGGGAAGCAGGGTGCTGCTTCTCTTATGGAACAACATCGTCTCCTGCTCTTGTCCCAGGTGGCGTTTAACCGAGTGGCTCGAGGCATGCTGCATCAGGACCACATTACCTTTGCCATGCTGCTGGCAAGAATCAAACTGAAGGGCACCGTGGGGTAAGAGCACTCACGCCCACAGGAGGATGCCATATTGCTGGTGGCCCCCAAGGGTTTCATGATCAGATACATGCTTTTATTATTTCTTTTATTTTCTCTTTTATTTTCTTTATTTTATTTTTTGAGACGGAGTCTCCCTTTGTTGCCTAGGCTGGAGTGCCGTGGTGTAATCTCACCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCTTCAGTCTCCGAAGTAGCTAGGACTATAGGCGCAGGCCACCACATCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCTTCATGTTGGCAGCCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGAGATTATAGGCCTGAGCCACTGTGCCCGGCCTGTTTTCTCTTTTCTTAAATCACAGCTGTTATCTTAGTGACAGTGGGAGTGAACGTGAGAGACCCTAGCTAACCTGTTGCACCCTTCGCAGGGAGCCCACCTACGATGCAGAATTCCAGCACTTCTTGAGAGGAAATGAGATTGTCCTGAGTGCTGGCTCCACCCCCAGGATCCAGGGCCTGACTGTGGAGCAGGCGGAGGCGGTGGTGAGGCTGAGCTGCCTTCCCGCGTTTAAGGACTTGATTGCAAAGGTTCAGGCAGACGAGGTGATTGTTCTCTTGAATGTTCCCAGTAGGTAAATGTTGGCCTTTTCCCAGGAAATGTAAGGAATTGCATGTGGTATAAAACCCAGAATGTTGTGTCTGCGCTCTCGCGTCAGACTCTCGCTCAGTCGTGGGTTCTGCCCCAGAGGCCAGCCCTGCTCCATGGGTGCTTCCACTATTGTCTCCACAGCAATTTGGCATCTGGCTGGACAGCAGCTCCCCGGAGCAGACTGTGCCCTACCTCTGGAGTGAAGAAACACCTGCAAGTAAGCCCCACTGTGGTTTTCTTTCTGGACCTGAATGTAAAGTTGGGTTTTGCTGCTTAAAGGGATGCTTTCAAAAAACACAAAGTTACTAGCCTGGGCAACATAGTAAGGCCCCATCTCTACAAAAAATAAAACCTTAGCCAGGCGTGGCGGTGCACACCTGTAGTCCCATCTACTCGGGAGGCTAAAGCAGGAAGGTCACTTGAGCCTGGGAGGTCGAGGTTGTGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGGCAGCAGACAGAGGCCTGTCTGTGAATGAATGGTCACTGATTCCCAAGATAAGTATTTCAATGTTAAAACTTTTTAAGGAAACCACTTAGGGAGATCGCTTCTAGGTAGGTGTTGGCTTAGAAGTAAATCAGAAATTTCCAATTCCTATTCATCTCATGCTTAAAGACCACAAGAGAACTAGATGGGGAACTCCTGCCTAATGCTAAGGAGTTAACTGGCTGTATTCATGCTGCAGACAGGAATGGAATGCCATCAGCCGTTTTTGAGTGTGTTAGGCCAGACCCTGGGCTAGCCAGGCTGAGAGGAAGTGTCAGACTGTGGAGGGCAGAGCGTGGAGCCCCCTTCCTGAGTACCTTCAGGTGTTCTCAGGAAGTGAGCAGGTATTAGTTTAGTAATCTAAAAATCAGCAAATGGCACCTTTGTCCTATGGATACATCCAGGTAGTAAGGTGTTCTCACAGGCGTGTCCAGAGGGCTCACGGAAGGCACAGCAGATGTGGCTGAATTTCCTGATTTGAGCTGATCCTGA
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GAACCGAGTTTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAACAAGAAAAATGTTCAAGAAACAAGAACAAGGAACATGTTCCTTTGCAGGAACATGGATGGAGCTGGAGGCCATTATCCTCAGCAAACTCATGCAGGAGCAGAAAACCAAGTACCAGATGTTCTCACTTAGAAGTGGGAGCTAAATGATGAGAACACATGGACACACAGAGGAACAACACACACTGGGACCTTTCAGAGCATGGAGGTTTAGGCTTATAACCAGGGTGATGAAATAATTTGTACAGTAAACCCCATGACAAGTTTACCTATGTAACAAACCTGCACTTGTATTTCTGAACTTAAAAGTTAAAAATGTGTTTTTAAATAAAGCATGTAAGGTCACTAGGAAGCATCAGATTTGCAACGAGATGAATTCATTATGCAAATGGAAAAAAATTTTTAAGAAATGAAATAAAATGCCATTCCAAGGGTCTGTGTCAGCACTGTCCCCAGAACTTTCTGCAGGGGCAGGAATGCCTTATGGTCCACACTGTCCAGTGTGGTAGCCACTAGCCTTGGGGGCTACTGAGCACTTCCCATGGCTAGTGTGACTAGGAACTGAGTTTTAATTTTTTATTTTATGTTTTTTTGAGACAGAGTGTTGCTCTGTCCCCCAGTCTGAACCTCCCAGGTTCAAGCAATTCTGTCTCAGCCTCCCAGGTAGCTGGGACTACAGGCATGTGCCATACACCCCCAGCTAACTTTCGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCATCTGGCTGAGTTTTTAATTTTAGTTCATTTAAATGTAAGTAGCCACACATAGCTAGTGGCCACCACACGCAAGTGGCGGGTGGCTTTTGGGAAGGTATGCTTATCCAGAGTAGGACAGCAACATAGCATTTGGGTGAAGATAAAGTTACAAAGCCCTGACCATCAAGTTCCACCCGTGTGGAATGCAGGATGTGGAAAGCTACGATCCAGTTTTGAACCCGGTGCTGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATCACTCTCGGGGACCAGGACATAGACCTGTCGCCATCGTTTGTCATCTTCCTGTCCACCCGGGATCCAACTGTAAGGAATGGGACCCTTCCCCAGGGAAATCTGGCAGGATGTGGTTTTGAAACTGGATTAAGACAGACTGTTCTGTTACCTATTTTGGCAGGTCGAGTTCCCACCAGATCTCTGTTCCCGGGTTACTTTTGTAAACTTCACAGTTACCCGTAGCAGTTTACAAAGCCAGTGTCTAAATGAAGTACTTAAAGCAGAAAGACCTGATGTGGACGAGAAACGATCTGATCTTCTTAAACTTCAAGGTAGGATCTGGACCTGTGGCTTTTAGATGGTTGGTGCAGGGGAAGGGGCTGAACTTTTAAGTGACTAGGATGTTCCACGTTTGTGGCAAACACTTCTGAGAGCATACCTTTTGAAGGATTATTGCAAACTCTGGATGTTTTATTCATTTAAGGGGAATTTCAGCTCCGTTTGCGTCAGCTGGAAAAATCTCTACTACAAGCTCTGAACGAGGTGAAAGGGCGCATTTTGGATGACGACACGATCATAACCACTCTGGAGAACCTGAAGAGAGAGGCTGCAGAGGTCACCAGGAAAGTTGAGGAGACGGACATTGTCATGCAGGAGGTGGAGACCGTGTCCCAGCAGTACCTCCCGCTCTCCACCGCCTGCAGCAGCATCTACTTCACCATGGAGTCCCTCAAGCAGGTGGGTGCCTTGGCCATGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGCACAGAGGCTGGCGGGCCCTGCACAGTAGCTCCTTGGCCACGCAGAAGTTCAGCGGGGTGCCGAGGGAGCTGCCTCACCGCTGCCCACTGCTTCCTTTCAGATACCCTTCTTGTACCAGTACTCCCTCCAGTTTTTCCTGGACATTTATCACAACGTCCTATACGAGAACCCGAACCTGAAGGGTGTCACCGACCACACACAGCGCCTGTCCATTATAACAAAGGACCTCTTCCAGGTAGAGTGAGGTCCTCAGCCGCTCCCTGGCGGGGGGGAAGCAGGGTGCTGCTTCTCTTATGGAACAACATCGTCTCCTGCTCTTGTCCCAGGTGGCGTTTAACCGAGTGGCTCGAGGCATGCTGCATCAGGACCACATTACCTTTGCCATGCTGCTGGCAAGAATCAAACTGAAGGGCACCGTGGGGTAAGAGCACTCACGCCCACAGGAGGATGCCATATTGCTGGTGGCCCCCAAGGGTTTCATGATCAGATACATGCTTTTATTATTTCTTTTATTTTCTCTTTTATTTTCTTTATTTTATTTTTTGAGACGGAGTCTCCCTTTGTTGCCTAGGCTGGAGTGCCGTGGTGTAATCTCACCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCTTCAGTCTCCGAAGTAGCTAGGACTATAGGCGCAGGCCACCACATCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCTTCATGTTGGCAGCCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGAGATTATAGGCCTGAGCCACTGTGCCCGGCCTGTTTTCTCTTTTCTTAAATCACAGCTGTTATCTTAGTGACAGTGGGAGTGAACGTGAGAGACCCTAGCTAACCTGTTGCACCCTTCGCAGGGAGCCCACCTACGATGCAGAATTCCAGCACTTCTTGAGAGGAAATGAGATTGTCCTGAGTGCTGGCTCCACCCCCAGGATCCAGGGCCTGACTGTGGAGCAGGCGGAGGCGGTGGTGAGGCTGAGCTGCCTTCCCGCGTTTAAGGACTTGATTGCAAAGGTTCAGGCAGACGAGGTGATTGTTCTCTTGAATGTTCCCAGTAGGTAAATGTTGGCCTTTTCCCAGGAAATGTAAGGAATTGCATGTGGTATAAAACCCAGAATGTTGTGTCTGCGCTCTCGCGTCAGACTCTCGCTCAGTCGTGGGTTCTGCCCCAGAGGCCAGCCCTGCTCCATGGGTGCTTCCACTATTGTCTCCACAGCAATTTGGCATCTGGCTGGACAGCAGCTCCCCGGAGCAGACTGTGCCCTACCTCTGGAGTGAAGAAACACCTGCAAGTAAGCCCCACTGTGGTTTTCTTTCTGGACCTGAATGTAAAGTTGGGTTTTGCTGCTTAAAGGGATGCTTTCAAAAAACACAAAGTTACTAGCCTGGGCAACATAGTAAGGCCCCATCTCTACAAAAAATAAAACCTTAGCCAGGCGTGGCGGTGCACACCTGTAGTCCCATCTACTCGGGAGGCTAAAGCAGGAAGGTCACTTGAGCCTGGGAGGTCGAGGTTGTGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGGCAGCAGACAGAGGCCTGTCTGTGAATGAATGGTCACTGATTCCCAAGATAAGTATTTCAATGTTAAAACTTTTTAAGGAAACCACTTAGGGAGATCGCTTCTAGGTAGGTGTTGGCTTAGAAGTAAATCAGAAATTTCCAATTCCTATTCATCTCATGCTTAAAGACCACAAGAGAACTAGATGGGGAACTCCTGCCTAATGCTAAGGAGTTAACTGGCTGTATTCATGCTGCAGACAGGAATGGAATGCCATCAGCCGTTTTTGAGTGTGTTAGGCCAGACCCTGGGCTAGCCAGGCTGAGAGGAAGTGTCAGACTGTGGAGGGCAGAGCGTGGAGCCCCCTTCCTGAGTACCTTCAGGTGTTCTCAGGAAGTGAGCAGGTATTAGTTTAGTAATCTAAAAATCAGCAAATGGCACCTTTGTCCTATGGATACATCCAGGTAGTAAGGTGTTCTCACAGGCGTGTCCAGAGGGCTCACGGAAGGCACAGCAGATGTGGCTGAATTTCCTGATTTGAGCTGATCCTGA
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Task1_train_20376
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This alteration occurs within gene AMN (amnion associated transmembrane protein) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
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Pathogenic; Imerslund-Grasbeck syndrome type 2
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CGCGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATTCATTCATTTTTCACTCACCATCCTCATCCATCCATTCATCACCCATCCACCCTCTATCACTCACCATCCACCCCGTCAACCATTTACCATTCATCTGCCATGCGTCCATATGCCGTACACCATGCACCATCAATGTTGCTGTCCATCAGCTGTCCCCTACTCACCATCCACTACTCTCCACCATCATCCACAATCCACCCTCCTATACCATCCACATACCATGTTCCATCCAGGATCTTCCTTCTATCATCCAACCACCACCCACAGCCCATGGGACAGGGGCACTGCGTGGAGAAGTGGACACCCAGTTCCAATGGTGAGCAGACTAGCTCAGCCCTAGCAGCACACAGGACAGAGAAAGGGGTGAATTCAAAGGTCGTTTATTCCCCCTCCCGGCAAGACACCCATTTTACAGGGTAGGTCAGTCTCGCCAAGCCCTTCTTCTTTGCCCTTCTTCCTGAGAACCTAAGGTGTTCAGGCCCTGCAGGGGCGGGTAAGGGGAGGCTGAGAAGGTGCCTCCCAGGGGCCTGAAGAGTCGGCCCTGGGCGGGTCTGGAGGTAAATGTGTAACCGACCCTGGTGCCCCCACCCGACCTGCCTGGTCACGTGGGTCCAGTGGGGCAAAGTCTCCTGGTGGGGTGCAAGGAGCCGAGGCGAGATGGGCGTCCTGGGCCGGGTCCTGCTGTGGCTGCAGCTCTGCGGTGAGCCGGGACCACACCGGTGCGGGCCCGGACGGTAGCGGTCTGTCAGGACCCAGGGCCGAGGTCGCTCTAGGCCTGGAGGGTGAAGATCTTCCGAGGAGTGGGCAGGGAGGGCTTTGGAGGGTTGGGGGCGTGAAACTCGGCCCTGCCTCCCTCGTCTGGCGAGTGCGCAGCCCGGAAGTGCGCGGCCAGTGCATCGGGCGGTGCGGGAGAGGAGAGGAGGGGCTCCGGGAACCTCGGCCAGCCCCGGCCTCCGGCGGCTCCTGCCCTCGCGGTTTTTCCGTCTGCGAAATGGGCGCGGTCCCCAGAACCTGCCGAGAGCAGCGAGTGTGCGCCTGCGGGGCTCGGCAGACCGCCTCAGCTTCCCGGTCCCCAAGGGAGCACTGAGCCCTCCTCCGCCTTCACACCAGGCCGGCGCGTGTCCCTGGCGCCCCCTTCCCTAAACCCCTCGCGGCTCCCTCAGGACAACCCCACCCACCACATTCAGGGCCGGCCTGACCTGGTCCTGCCGCCCCCAGCCCCTTCTTACTTCTCATACCGGGTTGCGCTCTGTCGCAGCTCTTCCCGGCCCAGGTAGGACTCCTCCGGGAAGCCTTCCTGATTCCAAGGCCGAGAAGAGGTCTGTGCTGCCCCATCCTCCTCCATGCCCCAGTTGTCACTGTCCTTAACAACGCTGTCCTCTGCTCCAGCGCCAGGCAAACTGGGGGCAGTGCCGGGAGGCTATCTAGGCAGGCGTCCTGCAGGGCGCGTTTGAGCGGGCTCTGCAGGTATCAGTAGAAGTCCGTTGGAGAGCGCCCGGGCAGGGCGCCCACAGTCTGGCCGGGAGGGACCAGGGTCTGGGTCCGGGCCCCCGGGGATGGGGTTCCTATGCGTCCCGGGTGATCCGCGCGGACCTTCCGCACTTCTCTGGGTGGGTGGCCTTCCCTGAGAAGGGAGCATCCCGGAGAGCATCCCGGGCACTCAGTCGCCTCCTCCCCAGCACTGACCCAGGCGGTCTCCAAACTCTGGGTCCCCAACACGGACTTCGACGTCGCAGCCAACTGGAGCCAGAACCGGACCCCGTGCGCCGGCGGCGCCGTTGAGTTCCCGGCGGACAAGGTGCCTGGGAGCGCCGGCGGGGTCGGTGATGGGCCTGGACCCCTGAGACCGTGTGGCCCCGGTGGGGGTTGCTCCCGGCTCGGCTGAGGCAGCTTCTTCCTGCAGATGGTGTCAGTCCTGGTGCAAGAAGGTCACGCCGTCTCAGACATGGTAAGGCCGGGCTGCTACTGCCACTGGGCTGGGGGTTCACAGAGTCTCTGAAGCGCCTTCAGGGACTGCTGTGCCTTGAGGGCGGACCCCACCGGCATGGAGGCACTGCAGGACTGGGACTTTGGCCTCTGGAGAATATTCTAGGAGGCAGGGAGTGGGGGGGAACCTAGGGGAGCTTGGTCCCATGGTCCCAGCCAGGCTGTGTCCTGGGAGGGATGGGAGGCACCCCTGTCCCCACAGCCCTTGTGATGCCCAGCAGTGGGTGGTCTTCCCAGGAAGCGCCTGCTCCATGCCCTTCCCCCAAAGCCTTGCCTTGTCCTGGTGCCTAAAGCTCCATCTTTAGAACACTAGGGAAAGTGTCCCCAACACCCCCCCCTCTACCCACCATCCGGGTCCCTGGCCTGTTAGGAAGTGGCCGCCCAGGAAGAGGCGAGCCCACTCCTGCCTGGCTCTGCCTCCCTTCAGATCAGATCAGATTCTCCTAGGGACCCCTATTGTCACTGCGCCAGCGAGGGGCCTGGGTGGGTGTGCACTCCTTAAGTGGCTGACATCTGAGATGGGACAGCTTAATCCTGAAACCTTCCCCACTCCCATCAGTCCATGGAAGAACTGTCTTCCACAAAACTGGTCCCTGGTGCCAAAAAGGTTGGGGACTGCTGCCCTAGGGGACCTTTTTCTCAAACTGCTTCACACAACACTCCAAGAACATGATGGGAACTGGGAGGAAAGCGGGTTCCATGAGTAGGTAAGTTTGGGAAATGCTGCAGCCTGCACTTTCCTGGAGCTTCATCACGTATTAAAGGCTCTGATAAGGCCCCAGAGAAAGAAGCTAATTTCCTTGTTTAAGGTGGAGTTCCGCAAGCTACAGGCCAAATGCAGCCCCTACGGGTGGAGCAAGGAACGGTTTTTACACTTTGTAATCGTTGGGGAAAAAAAGAACAATCTTTTGTGGCACTTGAAAAATATATGACATTCACACCTCAGCGACAGTAAATACAGCTTCACTGGCACACAGCCTGCCCGCTTGGTTGAGTATCCTCGGTGGCCACTGTCCCATTGCATCGGCAGCCCACCAGCTTCCAGGGTGACTGTGGGGCCTGCAGGCCAAGCCTCTGGGCAAAAGCTTCCTTCCAGCCCCTTCACAGCCACTCCTGGGCTGCGTCCTCATCCTGTCACCTGCACACCTGCCAGCTCAGTCACTCCTGAGTGAGGGTCACTGGTGAGCTGGGTCGGGGTGTCGGCTCCAGATGTGGGGTCCAGGCCTGGGGCCCCCGCGTGTGCGGGTGGGGAGGATGGCTCAATGGGCTTGGCCTGGCCCATTCCTGCCCCATGCGGGGTCAGGGACCCTGGGCCTCATTTCCACCCCAGGGCCGCTTGGTTCCTTCCTTCAGGTTTTCCAAAGCTGCCTTAACCCAAAAGCTGCCACACACTGGGGAGGGCACCCACAGCAAGATGGCGACGCTCCCACCCGGGAAACAGGAGGAGGGCAGGGAGAGGGAGGCGGTTGCCCCTTGTGGCCCGGCCCCCAGAACCCACGCATAACCTTGGCAACCAGGCAGCCCGAGTGAGGGGGGCACTGGGAGCTGATGGGGGACCTGTGGGCAGAGGAGTCAGGCTGGGCTGGGGGTTCCAGGGCATGGATTTCCCCCTACTCCCCTCCCCTGCCGGCCTCCTTACTTTCATGATCTCCTTTGGAAGCACTTGGGCTCTGAAAGGAGGCAATACTCCATTCATTCATCTATTCAATAATTCATTCATTGATCATCCATTGGCCGGTGGGAACAGCGCAGGGGCAGGGGACAGTGGCCCCAGGGTCCCAGCCTGCAGAGGCCGAATTCACCCAGAGCCGCCCAAGCACCCCCATCCCCTGCCCGCGTCGGCTATGTTGCCCTCCACACCCCTGGCTCCCAGCTTCATCCATCTGCCTAGATGAGGCCCGAGTAACAGGCCGTGCACATCAGTGCCTTACTTTGTAATTCTGTGGTTGGGAGCGTCCCTCCCTGCGATTTTCCTTTTCCTTGCCCTTCCTCCCATTTCTACCTTTTG
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CGCGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATTCATTCATTTTTCACTCACCATCCTCATCCATCCATTCATCACCCATCCACCCTCTATCACTCACCATCCACCCCGTCAACCATTTACCATTCATCTGCCATGCGTCCATATGCCGTACACCATGCACCATCAATGTTGCTGTCCATCAGCTGTCCCCTACTCACCATCCACTACTCTCCACCATCATCCACAATCCACCCTCCTATACCATCCACATACCATGTTCCATCCAGGATCTTCCTTCTATCATCCAACCACCACCCACAGCCCATGGGACAGGGGCACTGCGTGGAGAAGTGGACACCCAGTTCCAATGGTGAGCAGACTAGCTCAGCCCTAGCAGCACACAGGACAGAGAAAGGGGTGAATTCAAAGGTCGTTTATTCCCCCTCCCGGCAAGACACCCATTTTACAGGGTAGGTCAGTCTCGCCAAGCCCTTCTTCTTTGCCCTTCTTCCTGAGAACCTAAGGTGTTCAGGCCCTGCAGGGGCGGGTAAGGGGAGGCTGAGAAGGTGCCTCCCAGGGGCCTGAAGAGTCGGCCCTGGGCGGGTCTGGAGGTAAATGTGTAACCGACCCTGGTGCCCCCACCCGACCTGCCTGGTCACGTGGGTCCAGTGGGGCAAAGTCTCCTGGTGGGGTGCAAGGAGCCGAGGCGAGATGGGCGTCCTGGGCCGGGTCCTGCTGTGGCTGCAGCTCTGCGGTGAGCCGGGACCACACCGGTGCGGGCCCGGACGGTAGCGGTCTGTCAGGACCCAGGGCCGAGGTCGCTCTAGGCCTGGAGGGTGAAGATCTTCCGAGGAGTGGGCAGGGAGGGCTTTGGAGGGTTGGGGGCGTGAAACTCGGCCCTGCCTCCCTCGTCTGGCGAGTGCGCAGCCCGGAAGTGCGCGGCCAGTGCATCGGGCGGTGCGGGAGAGGAGAGGAGGGGCTCCGGGAACCTCGGCCAGCCCCGGCCTCCGGCGGCTCCTGCCCTCGCGGTTTTTCCGTCTGCGAAATGGGCGCGGTCCCCAGAACCTGCCGAGAGCAGCGAGTGTGCGCCTGCGGGGCTCGGCAGACCGCCTCAGCTTCCCGGTCCCCAAGGGAGCACTGAGCCCTCCTCCGCCTTCACACCAGGCCGGCGCGTGTCCCTGGCGCCCCCTTCCCTAAACCCCTCGCGGCTCCCTCAGGACAACCCCACCCACCACATTCAGGGCCGGCCTGACCTGGTCCTGCCGCCCCCAGCCCCTTCTTACTTCTCATACCGGGTTGCGCTCTGTCGCAGCTCTTCCCGGCCCAGGTAGGACTCCTCCGGGAAGCCTTCCTGATTCCAAGGCCGAGAAGAGGTCTGTGCTGCCCCATCCTCCTCCATGCCCCAGTTGTCACTGTCCTTAACAACGCTGTCCTCTGCTCCAGCGCCAGGCAAACTGGGGGCAGTGCCGGGAGGCTATCTAGGCAGGCGTCCTGCAGGGCGCGTTTGAGCGGGCTCTGCAGGTATCAGTAGAAGTCCGTTGGAGAGCGCCCGGGCAGGGCGCCCACAGTCTGGCCGGGAGGGACCAGGGTCTGGGTCCGGGCCCCCGGGGATGGGGTTCCTATGCGTCCCGGGTGATCCGCGCGGACCTTCCGCACTTCTCTGGGTGGGTGGCCTTCCCTGAGAAGGGAGCATCCCGGAGAGCATCCCGGGCACTCAGTCGCCTCCTCCCCAGCACTGACCCAGGCGGTCTCCAAACTCTGGGTCCCCAACACGGACTTCGACGTCGCAGCCAACTGGAGCCAGAACCGGACCCCGTGCGCCGGCGGCGCCGTTGAGTTCCCGGCGGACAAGGTGCCTGGGAGCGCCGGCGGGGTCGGTGATGGGCCTGGACCCCTGAGACCGTGTGGCCCCGGTGGGGGTTGCTCCCGGCTCGGCTGAGGCAGCTTCTTCCTGCAGATGGTGTCAGTCCTGGTGCAAGAAGGTCACGCCGTCTCAGACAAGGTAAGGCCGGGCTGCTACTGCCACTGGGCTGGGGGTTCACAGAGTCTCTGAAGCGCCTTCAGGGACTGCTGTGCCTTGAGGGCGGACCCCACCGGCATGGAGGCACTGCAGGACTGGGACTTTGGCCTCTGGAGAATATTCTAGGAGGCAGGGAGTGGGGGGGAACCTAGGGGAGCTTGGTCCCATGGTCCCAGCCAGGCTGTGTCCTGGGAGGGATGGGAGGCACCCCTGTCCCCACAGCCCTTGTGATGCCCAGCAGTGGGTGGTCTTCCCAGGAAGCGCCTGCTCCATGCCCTTCCCCCAAAGCCTTGCCTTGTCCTGGTGCCTAAAGCTCCATCTTTAGAACACTAGGGAAAGTGTCCCCAACACCCCCCCCTCTACCCACCATCCGGGTCCCTGGCCTGTTAGGAAGTGGCCGCCCAGGAAGAGGCGAGCCCACTCCTGCCTGGCTCTGCCTCCCTTCAGATCAGATCAGATTCTCCTAGGGACCCCTATTGTCACTGCGCCAGCGAGGGGCCTGGGTGGGTGTGCACTCCTTAAGTGGCTGACATCTGAGATGGGACAGCTTAATCCTGAAACCTTCCCCACTCCCATCAGTCCATGGAAGAACTGTCTTCCACAAAACTGGTCCCTGGTGCCAAAAAGGTTGGGGACTGCTGCCCTAGGGGACCTTTTTCTCAAACTGCTTCACACAACACTCCAAGAACATGATGGGAACTGGGAGGAAAGCGGGTTCCATGAGTAGGTAAGTTTGGGAAATGCTGCAGCCTGCACTTTCCTGGAGCTTCATCACGTATTAAAGGCTCTGATAAGGCCCCAGAGAAAGAAGCTAATTTCCTTGTTTAAGGTGGAGTTCCGCAAGCTACAGGCCAAATGCAGCCCCTACGGGTGGAGCAAGGAACGGTTTTTACACTTTGTAATCGTTGGGGAAAAAAAGAACAATCTTTTGTGGCACTTGAAAAATATATGACATTCACACCTCAGCGACAGTAAATACAGCTTCACTGGCACACAGCCTGCCCGCTTGGTTGAGTATCCTCGGTGGCCACTGTCCCATTGCATCGGCAGCCCACCAGCTTCCAGGGTGACTGTGGGGCCTGCAGGCCAAGCCTCTGGGCAAAAGCTTCCTTCCAGCCCCTTCACAGCCACTCCTGGGCTGCGTCCTCATCCTGTCACCTGCACACCTGCCAGCTCAGTCACTCCTGAGTGAGGGTCACTGGTGAGCTGGGTCGGGGTGTCGGCTCCAGATGTGGGGTCCAGGCCTGGGGCCCCCGCGTGTGCGGGTGGGGAGGATGGCTCAATGGGCTTGGCCTGGCCCATTCCTGCCCCATGCGGGGTCAGGGACCCTGGGCCTCATTTCCACCCCAGGGCCGCTTGGTTCCTTCCTTCAGGTTTTCCAAAGCTGCCTTAACCCAAAAGCTGCCACACACTGGGGAGGGCACCCACAGCAAGATGGCGACGCTCCCACCCGGGAAACAGGAGGAGGGCAGGGAGAGGGAGGCGGTTGCCCCTTGTGGCCCGGCCCCCAGAACCCACGCATAACCTTGGCAACCAGGCAGCCCGAGTGAGGGGGGCACTGGGAGCTGATGGGGGACCTGTGGGCAGAGGAGTCAGGCTGGGCTGGGGGTTCCAGGGCATGGATTTCCCCCTACTCCCCTCCCCTGCCGGCCTCCTTACTTTCATGATCTCCTTTGGAAGCACTTGGGCTCTGAAAGGAGGCAATACTCCATTCATTCATCTATTCAATAATTCATTCATTGATCATCCATTGGCCGGTGGGAACAGCGCAGGGGCAGGGGACAGTGGCCCCAGGGTCCCAGCCTGCAGAGGCCGAATTCACCCAGAGCCGCCCAAGCACCCCCATCCCCTGCCCGCGTCGGCTATGTTGCCCTCCACACCCCTGGCTCCCAGCTTCATCCATCTGCCTAGATGAGGCCCGAGTAACAGGCCGTGCACATCAGTGCCTTACTTTGTAATTCTGTGGTTGGGAGCGTCCCTCCCTGCGATTTTCCTTTTCCTTGCCCTTCCTCCCATTTCTACCTTTTG
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Task1_train_20377
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This sequence variant lies in MARK3 (microtubule affinity regulating kinase 3) on Chromosome 14. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Visual impairment and progressive phthisis bulbi
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ACTGTGTGTGTTAGATGAAACTGCAGACTTCCAGCCACTCTATCTTACCATGTCTGTTAACAGTTAATTTGCTCTGATGAATTTGCCCATCTTGGAGAAGGGGGCTCTGCTGACTGTTTTTTATCTTGGAGTAAATGTCCTTTGATTAGGAAGGTTCTAGACTATATTGTTAAAACAACATTGGAAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGTATCGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGACAAAACTCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGAGTGCGCCTGTATTCCCAGCCACTTAGGAGGCTGAGGTGGGAGAACCACCTGAGCCCAGGAAGTTGAGGCTGCATTGAGCCATGATCGTACCACTGCACTGCAGCTAGGTGACAGCAAAACCCTGTCTCAAAAAAACACCAAACAACATAGGATACTGTTATATAACAGCTAGTTCCTATACCTGTAATCTTATTAATTCATTTAAAATACATCAGTGCGGGCCGGGTGTGGTGGCTCACACTTATAATCCCAACACTTTGGAAGGCCAAGGCGGGAGGATCACTTGAAGCCACAAATTTAAGACCAGCCTGGATAATATAGCGAGACCCTGTCTCTACAAAAAAAATAAATAAAGAAAAAATAAAATATGTCAGTGTGTTTTGGGAACAGGTTGAGAGCATAGCATGCTCATATTATATATTCATTTTACCACTTAGATTTGAATTGAGGCATCTCTTAGAATAGGTTTTATTTTGTGCATACCCTCAGAGGACATTGTCCCTCTCATAGAAACAGATATTCAAACATGTAATCTGCTATTTTATTTTAAGGTAATAGATTTTTATGATTACTGTTTGGAAAAAAAAAAAAGCAACTATAGGTTAGCAGTTGCTCCAGAATCTCCAAAACAAGCTTAGGAGATTTTTATTCTTTACCAGAAATGAGATGGCTTGGGAGGAAGGTGTGTGCATTACACACAGGTTGCTCTGTGGTCACTGCTCCTTCATACTGTGTTTCTGCCTCTGCCTGAACCCAAACCCCTCCCAGCCTGACAGAAATGTTCGCTTACGCAGCTAGCCCTGCCTCAGTTTGTACATCTACCTGTCGGCTGAGACATCAGAAGTCGATGTCCATGTCAGCCTCTGGGCACCCCAAGATGATGTTACCTCCAATAGACAGTGAAGGAGATAACTTCAAGGCTATGTAAGAAAAATGCACATTCTTTGTGAAACTAATGTGTACCCACTGCTTCTTAATTTTGTGCTGTGGATTTTATAGTCTGAGATTTTGTTACAGTTGTCCACAAGGCGTCCTTCCTCCATGTGATTTTAGTTAAGCACATCTTTTGTCATGATGTCCTCGGTTGTGTATTGTGTGTCTTCGTGCCTTCGCGTACTACAAAATGTATAAGAAGTTCCTGCTCCTCCCAAGTTGCTTTCAGCATGTGGAATTTTATACATATATCATTTGTTTACTTCCAAAACTTTTTAGTTGCCTGTTCTTCAGTTACGCCAGCATATCCTTTATTTCTTTCGTATTGGCACAGTTCTCTATGTAAGCAATTTGAGAGGGAAGCAAAGGGGAAAAGTTTGAGTTAGCTGTTCTCTGTCCTAGAATTTCCCTGCATTAATCTTGTCCTTGAAAATATATATAATACTGGTCCCTTAAACTCCATGAGGCTTTGTCTCATTATGTATTGTTCTTTTGGTACCCTTTCCCACTTAACTTACCTTTTGCTCCTAAGTCCTATAAAATACCCCTTGGATCTGGATTTTTTATACCCGATTTTCTCCACTGTGTATAAAAGGTATATTGTGACTGTAAATTTTTGTATATCATGTTCTGAGAGCTTCTTACTTTCTGATCTCATAGCACTATTCCTGATCAGAGAACTCCAGTTGCTTCAACACACAGTATCAGTAGTGCAGCCACCCCAGATCGAATCCGCTTCCCAAGAGGCACTGCCAGTCGTAGCACTTTCCACGGCCAGCCCCGGGAACGGCGAACCGCAACATATAATGGCCCTCCTGCCTCTCCCAGCCTGTCCCATGAAGCCACACCATTGTCCCAGACTCGAAGCCGAGGCTCCACTAATCTCTTTAGTAAATTAACTTCAAAACTCACAAGGAGGTAAGTGCTAGGTGCTGGTTGTTTTGGAGTGAACACATAGAGCAAAAGGAAAGATGTCTTTTTTGTTGTGTGAAGCCACTGCTACCTGGATGCTTTTCAGTCTGCCTTCAGCTCATGGTTTTCTGGTTTTATATATATCTAACTTTATACTTTAAAACCTTTAAAGTAGAAATTGTAGAGCTCAGAGTCTTCATAACACTAAAAGTTAACTAGCATTTAGGAGGTTTTTGTTACTGTTCTTTAATTATTGTTCCTTTTGCTCACGTATCTGTCTGCATGGCATGTTCGTTGTTGTTGAGCAGGCAGACCTCGAGTTCTGGTGTGGGGTGGGGGGCTGGCACTCTGTAACAATCAGCAGGAAAGACCATGCATGTCTTTCATAATCATCTCCAGCCCCAGAGGAAAGAGACAGCTTCTCTTTTCTCACTTTATTGTTGTTAAGGAGCAGTAAATTTCTTAAGAGTCCAAATCTTGAAAGTTTCTCTCTCAGTCTTAGTAATTTATATTGAGAGCAAGGTAATGTCCTTAAATGGTATAGTTTTGGAGATAAAATCTCTGGTTTATTATCAAAAAATAATGTTACTATTATTAAGTTATTTTTATTAAATGCTGCATGATTCTTGGCTGATGGTCCTGGAAATTTTTTAAAATGTTCCATGTGTCTAGTAGGCTAGCATCTGGGGCCTCAGTAAACTCTCAAGGGTCCTTTGAGATTAACTTCATTTCCGTAACCTTGTTACCTGTTACAAAAGCCCAGAAATACTGGCTGCTTCAAGAGGAAAAAGAAAGGATACCACTTTGAACCGTAAACAATAGTGAAAGGCACCTTTCCGAGAAGGAGCCCAGGAAACCCAAGAGCCCCTGCAGTTTCAGGACATCCTTGGAGAAATGTTTTGAAATTAAGCCTAGCTGTGGATGAGTCTGTCTGTGGTATCTTGCAGGTTTGCCTAGGACGGACCCTCTTATTTGTCATCTGTAGCTTACAGGACAGCAGTAGGAGTCTTTCCCGAGTCTGAAATGATCAGTACCCTCCTCTGTTTTTCTGCATTCCCTATGGCCTATAGCCTATTACTTCATTTCACTCCATCTCCATTATTTAAACTAAGCTAAATGTAATCTTGTATTCGATCATCTGAAACTTCGGTGAGTCACATTAAAGTCTGATCTACTTATTATTAGGACATGGAATAGATTAGGGAGTATTCCTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTCGCCAAGGCTGGAGTGCAGTGGTGCAATCTTGGCTAACTTCAACCTCCGCCTAGATTAGGGAGGATCTCTGACATCCATTAGCATTAACTAGAAGTCAGACGCATCAGAAGGTTTCTATTTACCCTCTTACTCACTTCTTAGCCCCTTTATTAAGCCACCTCATTTTAAACTGGGCAAAACAGAATCAGCCAAAGAGCTTTGCCAGGTTTGGGACACCCATTCATGACCAGCCAGCAAGAGAGACAGTGAGTTCAATCTGAGAAGAGTCTGGTGACTCCCAGAATAAACCATTCCTTCCTGGCCAGCCGTGGTGGTTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCTCCTGAAGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGGAGTCCCAGCTACCCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCGTACCACTGCACTCTAGTCTGGGTGACAAAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAACTTTGAGTTTATTTTTCTTCTTTGTACTCTTTTTTCAGTCATTTTAAGACTA
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ACTGTGTGTGTTAGATGAAACTGCAGACTTCCAGCCACTCTATCTTACCATGTCTGTTAACAGTTAATTTGCTCTGATGAATTTGCCCATCTTGGAGAAGGGGGCTCTGCTGACTGTTTTTTATCTTGGAGTAAATGTCCTTTGATTAGGAAGGTTCTAGACTATATTGTTAAAACAACATTGGAAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGTATCGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGACAAAACTCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGAGTGCGCCTGTATTCCCAGCCACTTAGGAGGCTGAGGTGGGAGAACCACCTGAGCCCAGGAAGTTGAGGCTGCATTGAGCCATGATCGTACCACTGCACTGCAGCTAGGTGACAGCAAAACCCTGTCTCAAAAAAACACCAAACAACATAGGATACTGTTATATAACAGCTAGTTCCTATACCTGTAATCTTATTAATTCATTTAAAATACATCAGTGCGGGCCGGGTGTGGTGGCTCACACTTATAATCCCAACACTTTGGAAGGCCAAGGCGGGAGGATCACTTGAAGCCACAAATTTAAGACCAGCCTGGATAATATAGCGAGACCCTGTCTCTACAAAAAAAATAAATAAAGAAAAAATAAAATATGTCAGTGTGTTTTGGGAACAGGTTGAGAGCATAGCATGCTCATATTATATATTCATTTTACCACTTAGATTTGAATTGAGGCATCTCTTAGAATAGGTTTTATTTTGTGCATACCCTCAGAGGACATTGTCCCTCTCATAGAAACAGATATTCAAACATGTAATCTGCTATTTTATTTTAAGGTAATAGATTTTTATGATTACTGTTTGGAAAAAAAAAAAAGCAACTATAGGTTAGCAGTTGCTCCAGAATCTCCAAAACAAGCTTAGGAGATTTTTATTCTTTACCAGAAATGAGATGGCTTGGGAGGAAGGTGTGTGCATTACACACAGGTTGCTCTGTGGTCACTGCTCCTTCATACTGTGTTTCTGCCTCTGCCTGAACCCAAACCCCTCCCAGCCTGACAGAAATGTTCGCTTACGCAGCTAGCCCTGCCTCAGTTTGTACATCTACCTGTCGGCTGAGACATCAGAAGTCGATGTCCATGTCAGCCTCTGGGCACCCCAAGATGATGTTACCTCCAATAGACAGTGAAGGAGATAACTTCAAGGCTATGTAAGAAAAATGCACATTCTTTGTGAAACTAATGTGTACCCACTGCTTCTTAATTTTGTGCTGTGGATTTTATAGTCTGAGATTTTGTTACAGTTGTCCACAAGGCGTCCTTCCTCCATGTGATTTTAGTTAAGCACATCTTTTGTCATGATGTCCTCGGTTGTGTATTGTGTGTCTTCGTGCCTTCGCGTACTACAAAATGTATAAGAAGTTCCTGCTCCTCCCAAGTTGCTTTCAGCATGTGGAATTTTATACATATATCATTTGTTTACTTCCAAAACTTTTTAGTTGCCTGTTCTTCAGTTACGCCAGCATATCCTTTATTTCTTTCGTATTGGCACAGTTCTCTATGTAAGCAATTTGAGAGGGAAGCAAAGGGGAAAAGTTTGAGTTAGCTGTTCTCTGTCCTAGAATTTCCCTGCATTAATCTTGTCCTTGAAAATATATATAATACTGGTCCCTTAAACTCCATGAGGCTTTGTCTCATTATGTATTGTTCTTTTGGTACCCTTTCCCACTTAACTTACCTTTTGCTCCTAAGTCCTATAAAATACCCCTTGGATCTGGATTTTTTATACCCGATTTTCTCCACTGTGTATAAAAGGTATATTGTGACTGTAAATTTTTGTATATCATGTTCTGAGAGCTTCTTACTTTCTGATCTCATAGCACTATTCCTGATCAGAGAACTCCAGTTGCTTCAACACACAGTATCAGTAGTGCAGCCACCCCAGATCGAATCCGCTTCCCAAGAGGCACTGCCAGTCGTAGCACTTTCCACGGCCAGCCCGGGGAACGGCGAACCGCAACATATAATGGCCCTCCTGCCTCTCCCAGCCTGTCCCATGAAGCCACACCATTGTCCCAGACTCGAAGCCGAGGCTCCACTAATCTCTTTAGTAAATTAACTTCAAAACTCACAAGGAGGTAAGTGCTAGGTGCTGGTTGTTTTGGAGTGAACACATAGAGCAAAAGGAAAGATGTCTTTTTTGTTGTGTGAAGCCACTGCTACCTGGATGCTTTTCAGTCTGCCTTCAGCTCATGGTTTTCTGGTTTTATATATATCTAACTTTATACTTTAAAACCTTTAAAGTAGAAATTGTAGAGCTCAGAGTCTTCATAACACTAAAAGTTAACTAGCATTTAGGAGGTTTTTGTTACTGTTCTTTAATTATTGTTCCTTTTGCTCACGTATCTGTCTGCATGGCATGTTCGTTGTTGTTGAGCAGGCAGACCTCGAGTTCTGGTGTGGGGTGGGGGGCTGGCACTCTGTAACAATCAGCAGGAAAGACCATGCATGTCTTTCATAATCATCTCCAGCCCCAGAGGAAAGAGACAGCTTCTCTTTTCTCACTTTATTGTTGTTAAGGAGCAGTAAATTTCTTAAGAGTCCAAATCTTGAAAGTTTCTCTCTCAGTCTTAGTAATTTATATTGAGAGCAAGGTAATGTCCTTAAATGGTATAGTTTTGGAGATAAAATCTCTGGTTTATTATCAAAAAATAATGTTACTATTATTAAGTTATTTTTATTAAATGCTGCATGATTCTTGGCTGATGGTCCTGGAAATTTTTTAAAATGTTCCATGTGTCTAGTAGGCTAGCATCTGGGGCCTCAGTAAACTCTCAAGGGTCCTTTGAGATTAACTTCATTTCCGTAACCTTGTTACCTGTTACAAAAGCCCAGAAATACTGGCTGCTTCAAGAGGAAAAAGAAAGGATACCACTTTGAACCGTAAACAATAGTGAAAGGCACCTTTCCGAGAAGGAGCCCAGGAAACCCAAGAGCCCCTGCAGTTTCAGGACATCCTTGGAGAAATGTTTTGAAATTAAGCCTAGCTGTGGATGAGTCTGTCTGTGGTATCTTGCAGGTTTGCCTAGGACGGACCCTCTTATTTGTCATCTGTAGCTTACAGGACAGCAGTAGGAGTCTTTCCCGAGTCTGAAATGATCAGTACCCTCCTCTGTTTTTCTGCATTCCCTATGGCCTATAGCCTATTACTTCATTTCACTCCATCTCCATTATTTAAACTAAGCTAAATGTAATCTTGTATTCGATCATCTGAAACTTCGGTGAGTCACATTAAAGTCTGATCTACTTATTATTAGGACATGGAATAGATTAGGGAGTATTCCTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTCGCCAAGGCTGGAGTGCAGTGGTGCAATCTTGGCTAACTTCAACCTCCGCCTAGATTAGGGAGGATCTCTGACATCCATTAGCATTAACTAGAAGTCAGACGCATCAGAAGGTTTCTATTTACCCTCTTACTCACTTCTTAGCCCCTTTATTAAGCCACCTCATTTTAAACTGGGCAAAACAGAATCAGCCAAAGAGCTTTGCCAGGTTTGGGACACCCATTCATGACCAGCCAGCAAGAGAGACAGTGAGTTCAATCTGAGAAGAGTCTGGTGACTCCCAGAATAAACCATTCCTTCCTGGCCAGCCGTGGTGGTTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCTCCTGAAGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGGAGTCCCAGCTACCCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCGTACCACTGCACTCTAGTCTGGGTGACAAAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAACTTTGAGTTTATTTTTCTTCTTTGTACTCTTTTTTCAGTCATTTTAAGACTA
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Task1_train_20378
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A variant was discovered in gene KIF26A (kinesin family member 26A), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not specified
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GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCCCTGCCTGATTCTCTTGCCCCCCTAGGCCGAAGTCTGCTCGGGGACCGTGGCCGACGTGCTCCAGTCGGTGGTCAGTGGGGCTGATGGCTGCATTTTTTCCTTTGGCCACATGAGCCTGGGTAAGCACCCTTGCCCCACCCTAGATGGGTCCTGCTGGCCACCCCCTCCCATCCTCATCACGGTGGTTGCTGGCAGCTTCTGATGGGAAAGGAGGCTGGTCCTACACATGGGCCGTGGTGGGCATATGGGGTGAGGGGCTTGTGGAGAGGAAGCTGAACCCCTGCCGAACTGAAAGGCAGAGGGCTTAGGATGGATCCAAAGAGGCCCCTGAGATCTCGGTGCCCCTGGTTGGCCCCCGGGGACGCCAGTAGCCATAAAGGCTCCTTGCGTGGTGTGTGGTGGGGCCTGACGCCTGCGTGGCCCCCAGGCAAGTCGTACACCATGATCGGGAAGGACAGCTCACCCCAGAGCCTGGGCATCGTGCCCTGCGCCATCTCCTGGCTCTTCAGGCTCATCGAGGAGCGCAGGGAGAGGACGGGCACCCGCTTCTCCGTCCGGGTCTCAGCCGTGGAGGTGTGCGGGCGCGACCAGAGCCTGCGGGACCTGCTGGCCGAGGTGGCCCCTGGCAGCCTCCAGGACACCCAGTCTCCGGGAGTGTACCTGCGGGAGGACCCCGTGTGTGGGGCGCAGGTGCGCCTGCCTACTGTCCCACCTTGGGGGAGGGGGGCTGCACTTGGCCCTGAGCCACTGAAGACGCCGCTGCCTCTGCCTTTCCTGCAGCTCCAGAACCAAAGCGAGCTGCGGGCACCCACGGCCGAGAAGGCGGCTTTCTACCTGGATGCGGCCCTGGCGGCCCGCAGCACCAGCCGAGCGGGCTGTGGCGAGGACGCCCGACGCAGCTCCCACATGTTGTTCACGCTGCACGTCTACCAGTACCGCATGGAGAAGTGCGGCCGGGGAGGAAGTAGGTGCCACACCCGCACTCCCGGGCCCCTGTGGGATGCGTGTCAGCAGAGACCCAGGCACAGGGGCCTGTCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTGGCCCCTTGGTGACCTGGTAAATCCGTGTCTGGTGTGCCCGGTGCTGCTGTGGCCCCCAGCTCCTCAGGGCTTTGCTCCTCCACCACCTGACAGGCCTCGCTGCCCGTGGGCTGCCTGGGGCCCCACGCTGGGCTGGTGCCGGAGCTGGGTGGGAACCAGACTGATCCCAGGGCTGCCCTTGGCCAGCCTGTCCCCGAAGCTCCCTTCCCAAGGCCTTGGCATCTGAACCGCCTCGACCCGCAGGGACCACAGGCTCACCATGCTGCTGCGTGAATCCCTGGCCACCGCTGGCTGCCGCACCACCATGATCGCCCACGTGTCGGATGCGCCAGCCCAGCACGCAGAGACACTCAGCACCGTGCAGCTCGCCGCCCGCATCCACCGCCTGCGCAGGAAGAAGGCCAAGGTGCTCCCCACCTCCTGCCCGCCCCATCTCGGGGCCGTCTCGGCTCCTGTGTCCACTGCAGGCCTCTGCTGGCCTGGTTGGGGTGGGGGTCAGCAGGTGGCCTGGAGCCTGGGTAGATGTCCTATGTGTTCTGATGTCATGAGGCTATGCCCATGTGGCCCTCCCTGGGGGGTGGGGAGCCCAGCCTGAGGTCCCTGGCTGCAGTGGGCAGAATCGGGGCTTGCTGTATGTGGCTTGTGGTGGCCTCACTCCAGCCTGCTGCCCCCGCACAGGCCCTGGGGTGCTCAGGAGAGCCGCACCACCTCTGCAGGGGCTTCCTAGGGACCCCTCTCTGGGGCTGGAGGGTGGAGTTTGGGGCACTCTGGGGTTACACGGCCCTTGGTGTGAGTCCTGGCCACTGGCCTGGGCACACATGCTTGTCTTTTGAGCTTCCCGTTCCCTCCCAGCGCGGGGTGACACCGTTTTCCTTGTAAAGTTGCTAAGAATGGTCACTTAAGTTCTTCCCCTGAGACTCAGTTCCGCTCCCAGCGTTTGGTGGGACATGGTTGGTGGTGCCTGCTGTAGTTTTCATCACAGTGACCGCAGCATTGGCCCTGTGCTCTGGGGAGGGTCGGGGAAGCGGGGGCGTGTAGGGGAGACTGGGCTCGGCAGCTCCACTTTTCTTCCCCCAGTACGCCTCCAGCTCCTCTGGCGGGGAGAGCTCCTGTGAGGAAGGCCGGGCCCGTCGGCCCCCGCACCTGCGGCCCTTCCACCCACGCACTGTGGCCCTGGACCCCGACCGCACGCCTCCCTGCCTGCCCGGTGACCCCGATTACTCCTCCAGCAGCGAGCAGTCCTGTGACACGGTCATCTACGTGGGGCCCGGTGGGGCGGCGCTGTCAGACCGGGAGCTCACCGACAACGAAGGTCCGCCTGACTTCGTGCCCATCATCCCTGCCCTGAGCCGCCACCGGCCCTCCAAGGGTCCCCGAGACGCAGACCACTTCCGCTGCAGCACCTTCGCGGAGCTGCAGGAGCGGCTGGAATGCATGGACGGCAACGAGGGTCCCTCAGGAGGTCCAGGTGGCACCGACGGAGCTCAGGCCAGCCCCGCCCGAGGGGGCCGGAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAA
|
GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCCCTGCCTGATTCTCTTGCCCCCCTAGGCCGAAGTCTGCTCGGGGACCGTGGCCGACGTGCTCCAGTCGGTGGTCAGTGGGGCTGATGGCTGCATTTTTTCCTTTGGCCACATGAGCCTGGGTAAGCACCCTTGCCCCACCCTAGATGGGTCCTGCTGGCCACCCCCTCCCATCCTCATCACGGTGGTTGCTGGCAGCTTCTGATGGGAAAGGAGGCTGGTCCTACACATGGGCCGTGGTGGGCATATGGGGTGAGGGGCTTGTGGAGAGGAAGCTGAACCCCTGCCGAACTGAAAGGCAGAGGGCTTAGGATGGATCCAAAGAGGCCCCTGAGATCTCGGTGCCCCTGGTTGGCCCCCGGGGACGCCAGTAGCCATAAAGGCTCCTTGCGTGGTGTGTGGTGGGGCCTGACGCCTGCGTGGCCCCCAGGCAAGTCGTACACCATGATCGGGAAGGACAGCTCACCCCAGAGCCTGGGCATCGTGCCCTGCGCCATCTCCTGGCTCTTCAGGCTCATCGAGGAGCGCAGGGAGAGGACGGGCACCCGCTTCTCCGTCCGGGTCTCAGCCGTGGAGGTGTGCGGGCGCGACCAGAGCCTGCGGGACCTGCTGGCCGAGGTGGCCCCTGGCAGCCTCCAGGACACCCAGTCTCCGGGAGTGTACCTGCGGGAGGACCCCGTGTGTGGGGCGCAGGTGCGCCTGCCTACTGTCCCACCTTGGGGGAGGGGGGCTGCACTTGGCCCTGAGCCACTGAAGACGCCGCTGCCTCTGCCTTTCCTGCAGCTCCAGAACCAAAGCGAGCTGCGGGCACCCACGGCCGAGAAGGCGGCTTTCTACCTGGATGCGGCCCTGGCGGCCCGCAGCACCAGCCGAGCGGGCTGTGGCGAGGACGCCCGACGCAGCTCCCACATGTTGTTCACGCTGCACGTCTACCAGTACCGCATGGAGAAGTGCGGCCGGGGAGGAAGTAGGTGCCACACCCGCACTCCCGGGCCCCTGTGGGATGCGTGTCAGCAGAGACCCAGGCACAGGGGCCTGTCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTGGCCCCTTGGTGACCTGGTAAATCCGTGTCTGGTGTGCCCGGTGCTGCTGTGGCCCCCAGCTCCTCAGGGCTTTGCTCCTCCACCACCTGACAGGCCTCGCTGCCCGTGGGCTGCCTGGGGCCCCACGCTGGGCTGGTGCCGGAGCTGGGTGGGAACCAGACTGATCCCAGGGCTGCCCTTGGCCAGCCTGTCCCCGAAGCTCCCTTCCCAAGGCCTTGGCATCTGAACCGCCTCGACCCGCAGGGACCACAGGCTCACCATGCTGCTGCGTGAATCCCTGGCCACCGCTGGCTGCCGCACCACCATGATCGCCCACGTGTCGGATGCGCCAGCCCAGCACGCAGAGACACTCAGCACCGTGCAGCTCGCCGCCTGCATCCACCGCCTGCGCAGGAAGAAGGCCAAGGTGCTCCCCACCTCCTGCCCGCCCCATCTCGGGGCCGTCTCGGCTCCTGTGTCCACTGCAGGCCTCTGCTGGCCTGGTTGGGGTGGGGGTCAGCAGGTGGCCTGGAGCCTGGGTAGATGTCCTATGTGTTCTGATGTCATGAGGCTATGCCCATGTGGCCCTCCCTGGGGGGTGGGGAGCCCAGCCTGAGGTCCCTGGCTGCAGTGGGCAGAATCGGGGCTTGCTGTATGTGGCTTGTGGTGGCCTCACTCCAGCCTGCTGCCCCCGCACAGGCCCTGGGGTGCTCAGGAGAGCCGCACCACCTCTGCAGGGGCTTCCTAGGGACCCCTCTCTGGGGCTGGAGGGTGGAGTTTGGGGCACTCTGGGGTTACACGGCCCTTGGTGTGAGTCCTGGCCACTGGCCTGGGCACACATGCTTGTCTTTTGAGCTTCCCGTTCCCTCCCAGCGCGGGGTGACACCGTTTTCCTTGTAAAGTTGCTAAGAATGGTCACTTAAGTTCTTCCCCTGAGACTCAGTTCCGCTCCCAGCGTTTGGTGGGACATGGTTGGTGGTGCCTGCTGTAGTTTTCATCACAGTGACCGCAGCATTGGCCCTGTGCTCTGGGGAGGGTCGGGGAAGCGGGGGCGTGTAGGGGAGACTGGGCTCGGCAGCTCCACTTTTCTTCCCCCAGTACGCCTCCAGCTCCTCTGGCGGGGAGAGCTCCTGTGAGGAAGGCCGGGCCCGTCGGCCCCCGCACCTGCGGCCCTTCCACCCACGCACTGTGGCCCTGGACCCCGACCGCACGCCTCCCTGCCTGCCCGGTGACCCCGATTACTCCTCCAGCAGCGAGCAGTCCTGTGACACGGTCATCTACGTGGGGCCCGGTGGGGCGGCGCTGTCAGACCGGGAGCTCACCGACAACGAAGGTCCGCCTGACTTCGTGCCCATCATCCCTGCCCTGAGCCGCCACCGGCCCTCCAAGGGTCCCCGAGACGCAGACCACTTCCGCTGCAGCACCTTCGCGGAGCTGCAGGAGCGGCTGGAATGCATGGACGGCAACGAGGGTCCCTCAGGAGGTCCAGGTGGCACCGACGGAGCTCAGGCCAGCCCCGCCCGAGGGGGCCGGAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAA
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Task1_train_20379
|
Given this variant in gene KIF26A (kinesin family member 26A) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Cortical dysplasia, complex, with other brain malformations 11
|
GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCCCTGCCTGATTCTCTTGCCCCCCTAGGCCGAAGTCTGCTCGGGGACCGTGGCCGACGTGCTCCAGTCGGTGGTCAGTGGGGCTGATGGCTGCATTTTTTCCTTTGGCCACATGAGCCTGGGTAAGCACCCTTGCCCCACCCTAGATGGGTCCTGCTGGCCACCCCCTCCCATCCTCATCACGGTGGTTGCTGGCAGCTTCTGATGGGAAAGGAGGCTGGTCCTACACATGGGCCGTGGTGGGCATATGGGGTGAGGGGCTTGTGGAGAGGAAGCTGAACCCCTGCCGAACTGAAAGGCAGAGGGCTTAGGATGGATCCAAAGAGGCCCCTGAGATCTCGGTGCCCCTGGTTGGCCCCCGGGGACGCCAGTAGCCATAAAGGCTCCTTGCGTGGTGTGTGGTGGGGCCTGACGCCTGCGTGGCCCCCAGGCAAGTCGTACACCATGATCGGGAAGGACAGCTCACCCCAGAGCCTGGGCATCGTGCCCTGCGCCATCTCCTGGCTCTTCAGGCTCATCGAGGAGCGCAGGGAGAGGACGGGCACCCGCTTCTCCGTCCGGGTCTCAGCCGTGGAGGTGTGCGGGCGCGACCAGAGCCTGCGGGACCTGCTGGCCGAGGTGGCCCCTGGCAGCCTCCAGGACACCCAGTCTCCGGGAGTGTACCTGCGGGAGGACCCCGTGTGTGGGGCGCAGGTGCGCCTGCCTACTGTCCCACCTTGGGGGAGGGGGGCTGCACTTGGCCCTGAGCCACTGAAGACGCCGCTGCCTCTGCCTTTCCTGCAGCTCCAGAACCAAAGCGAGCTGCGGGCACCCACGGCCGAGAAGGCGGCTTTCTACCTGGATGCGGCCCTGGCGGCCCGCAGCACCAGCCGAGCGGGCTGTGGCGAGGACGCCCGACGCAGCTCCCACATGTTGTTCACGCTGCACGTCTACCAGTACCGCATGGAGAAGTGCGGCCGGGGAGGAAGTAGGTGCCACACCCGCACTCCCGGGCCCCTGTGGGATGCGTGTCAGCAGAGACCCAGGCACAGGGGCCTGTCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTGGCCCCTTGGTGACCTGGTAAATCCGTGTCTGGTGTGCCCGGTGCTGCTGTGGCCCCCAGCTCCTCAGGGCTTTGCTCCTCCACCACCTGACAGGCCTCGCTGCCCGTGGGCTGCCTGGGGCCCCACGCTGGGCTGGTGCCGGAGCTGGGTGGGAACCAGACTGATCCCAGGGCTGCCCTTGGCCAGCCTGTCCCCGAAGCTCCCTTCCCAAGGCCTTGGCATCTGAACCGCCTCGACCCGCAGGGACCACAGGCTCACCATGCTGCTGCGTGAATCCCTGGCCACCGCTGGCTGCCGCACCACCATGATCGCCCACGTGTCGGATGCGCCAGCCCAGCACGCAGAGACACTCAGCACCGTGCAGCTCGCCGCCCGCATCCACCGCCTGCGCAGGAAGAAGGCCAAGGTGCTCCCCACCTCCTGCCCGCCCCATCTCGGGGCCGTCTCGGCTCCTGTGTCCACTGCAGGCCTCTGCTGGCCTGGTTGGGGTGGGGGTCAGCAGGTGGCCTGGAGCCTGGGTAGATGTCCTATGTGTTCTGATGTCATGAGGCTATGCCCATGTGGCCCTCCCTGGGGGGTGGGGAGCCCAGCCTGAGGTCCCTGGCTGCAGTGGGCAGAATCGGGGCTTGCTGTATGTGGCTTGTGGTGGCCTCACTCCAGCCTGCTGCCCCCGCACAGGCCCTGGGGTGCTCAGGAGAGCCGCACCACCTCTGCAGGGGCTTCCTAGGGACCCCTCTCTGGGGCTGGAGGGTGGAGTTTGGGGCACTCTGGGGTTACACGGCCCTTGGTGTGAGTCCTGGCCACTGGCCTGGGCACACATGCTTGTCTTTTGAGCTTCCCGTTCCCTCCCAGCGCGGGGTGACACCGTTTTCCTTGTAAAGTTGCTAAGAATGGTCACTTAAGTTCTTCCCCTGAGACTCAGTTCCGCTCCCAGCGTTTGGTGGGACATGGTTGGTGGTGCCTGCTGTAGTTTTCATCACAGTGACCGCAGCATTGGCCCTGTGCTCTGGGGAGGGTCGGGGAAGCGGGGGCGTGTAGGGGAGACTGGGCTCGGCAGCTCCACTTTTCTTCCCCCAGTACGCCTCCAGCTCCTCTGGCGGGGAGAGCTCCTGTGAGGAAGGCCGGGCCCGTCGGCCCCCGCACCTGCGGCCCTTCCACCCACGCACTGTGGCCCTGGACCCCGACCGCACGCCTCCCTGCCTGCCCGGTGACCCCGATTACTCCTCCAGCAGCGAGCAGTCCTGTGACACGGTCATCTACGTGGGGCCCGGTGGGGCGGCGCTGTCAGACCGGGAGCTCACCGACAACGAAGGTCCGCCTGACTTCGTGCCCATCATCCCTGCCCTGAGCCGCCACCGGCCCTCCAAGGGTCCCCGAGACGCAGACCACTTCCGCTGCAGCACCTTCGCGGAGCTGCAGGAGCGGCTGGAATGCATGGACGGCAACGAGGGTCCCTCAGGAGGTCCAGGTGGCACCGACGGAGCTCAGGCCAGCCCCGCCCGAGGGGGCCGGAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAA
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GGGGCGCCCGGTGCTCCCTGCCCATGCTGAGCCGTGCACCGTGTGGCTGCGTGTGCGTCTCTCTGCGCGTGGTGGTCTGCCCCTGCGCCCGGCGGCTGGACTTCTGGGCTTTGCGGGTGTGTGTCTGCACGTGTCTGGCCAGTCCCTCCTACGTGTGTCCTGGGTCCTGTTCATGTGTGTTCTGTGCTTTCCGTGTGCACATGGGATCTGTCCTTGGTCCCAGGTGTGCAGCCCAATCTCCTTGTGGGTCGACTGCCTGCATGTGCCAGGACAGACCGGCCTCAGGCCCACAGACGTGGCAGAAGGAAGGGGCCACAGCCCTGCCTGATTCTCTTGCCCCCCTAGGCCGAAGTCTGCTCGGGGACCGTGGCCGACGTGCTCCAGTCGGTGGTCAGTGGGGCTGATGGCTGCATTTTTTCCTTTGGCCACATGAGCCTGGGTAAGCACCCTTGCCCCACCCTAGATGGGTCCTGCTGGCCACCCCCTCCCATCCTCATCACGGTGGTTGCTGGCAGCTTCTGATGGGAAAGGAGGCTGGTCCTACACATGGGCCGTGGTGGGCATATGGGGTGAGGGGCTTGTGGAGAGGAAGCTGAACCCCTGCCGAACTGAAAGGCAGAGGGCTTAGGATGGATCCAAAGAGGCCCCTGAGATCTCGGTGCCCCTGGTTGGCCCCCGGGGACGCCAGTAGCCATAAAGGCTCCTTGCGTGGTGTGTGGTGGGGCCTGACGCCTGCGTGGCCCCCAGGCAAGTCGTACACCATGATCGGGAAGGACAGCTCACCCCAGAGCCTGGGCATCGTGCCCTGCGCCATCTCCTGGCTCTTCAGGCTCATCGAGGAGCGCAGGGAGAGGACGGGCACCCGCTTCTCCGTCCGGGTCTCAGCCGTGGAGGTGTGCGGGCGCGACCAGAGCCTGCGGGACCTGCTGGCCGAGGTGGCCCCTGGCAGCCTCCAGGACACCCAGTCTCCGGGAGTGTACCTGCGGGAGGACCCCGTGTGTGGGGCGCAGGTGCGCCTGCCTACTGTCCCACCTTGGGGGAGGGGGGCTGCACTTGGCCCTGAGCCACTGAAGACGCCGCTGCCTCTGCCTTTCCTGCAGCTCCAGAACCAAAGCGAGCTGCGGGCACCCACGGCCGAGAAGGCGGCTTTCTACCTGGATGCGGCCCTGGCGGCCCGCAGCACCAGCCGAGCGGGCTGTGGCGAGGACGCCCGACGCAGCTCCCACATGTTGTTCACGCTGCACGTCTACCAGTACCGCATGGAGAAGTGCGGCCGGGGAGGAAGTAGGTGCCACACCCGCACTCCCGGGCCCCTGTGGGATGCGTGTCAGCAGAGACCCAGGCACAGGGGCCTGTCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTGGCCCCTTGGTGACCTGGTAAATCCGTGTCTGGTGTGCCCGGTGCTGCTGTGGCCCCCAGCTCCTCAGGGCTTTGCTCCTCCACCACCTGACAGGCCTCGCTGCCCGTGGGCTGCCTGGGGCCCCACGCTGGGCTGGTGCCGGAGCTGGGTGGGAACCAGACTGATCCCAGGGCTGCCCTTGGCCAGCCTGTCCCCGAAGCTCCCTTCCCAAGGCCTTGGCATCTGAACCGCCTCGACCCGCAGGGACCACAGGCTCACCATGCTGCTGCGTGAATCCCTGGCCACCGCTGGCTGCCGCACCACCATGATCGCCCACGTGTCGGATGCGCCAGCCCAGCACGCAGAGACACTCAGCACCGTGCAGCTCGCCGCCTGCATCCACCGCCTGCGCAGGAAGAAGGCCAAGGTGCTCCCCACCTCCTGCCCGCCCCATCTCGGGGCCGTCTCGGCTCCTGTGTCCACTGCAGGCCTCTGCTGGCCTGGTTGGGGTGGGGGTCAGCAGGTGGCCTGGAGCCTGGGTAGATGTCCTATGTGTTCTGATGTCATGAGGCTATGCCCATGTGGCCCTCCCTGGGGGGTGGGGAGCCCAGCCTGAGGTCCCTGGCTGCAGTGGGCAGAATCGGGGCTTGCTGTATGTGGCTTGTGGTGGCCTCACTCCAGCCTGCTGCCCCCGCACAGGCCCTGGGGTGCTCAGGAGAGCCGCACCACCTCTGCAGGGGCTTCCTAGGGACCCCTCTCTGGGGCTGGAGGGTGGAGTTTGGGGCACTCTGGGGTTACACGGCCCTTGGTGTGAGTCCTGGCCACTGGCCTGGGCACACATGCTTGTCTTTTGAGCTTCCCGTTCCCTCCCAGCGCGGGGTGACACCGTTTTCCTTGTAAAGTTGCTAAGAATGGTCACTTAAGTTCTTCCCCTGAGACTCAGTTCCGCTCCCAGCGTTTGGTGGGACATGGTTGGTGGTGCCTGCTGTAGTTTTCATCACAGTGACCGCAGCATTGGCCCTGTGCTCTGGGGAGGGTCGGGGAAGCGGGGGCGTGTAGGGGAGACTGGGCTCGGCAGCTCCACTTTTCTTCCCCCAGTACGCCTCCAGCTCCTCTGGCGGGGAGAGCTCCTGTGAGGAAGGCCGGGCCCGTCGGCCCCCGCACCTGCGGCCCTTCCACCCACGCACTGTGGCCCTGGACCCCGACCGCACGCCTCCCTGCCTGCCCGGTGACCCCGATTACTCCTCCAGCAGCGAGCAGTCCTGTGACACGGTCATCTACGTGGGGCCCGGTGGGGCGGCGCTGTCAGACCGGGAGCTCACCGACAACGAAGGTCCGCCTGACTTCGTGCCCATCATCCCTGCCCTGAGCCGCCACCGGCCCTCCAAGGGTCCCCGAGACGCAGACCACTTCCGCTGCAGCACCTTCGCGGAGCTGCAGGAGCGGCTGGAATGCATGGACGGCAACGAGGGTCCCTCAGGAGGTCCAGGTGGCACCGACGGAGCTCAGGCCAGCCCCGCCCGAGGGGGCCGGAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAA
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Task1_train_20380
|
The gene KIF26A (kinesin family member 26A) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cortical dysplasia, complex, with other brain malformations 11
|
TCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTGGCCCCTTGGTGACCTGGTAAATCCGTGTCTGGTGTGCCCGGTGCTGCTGTGGCCCCCAGCTCCTCAGGGCTTTGCTCCTCCACCACCTGACAGGCCTCGCTGCCCGTGGGCTGCCTGGGGCCCCACGCTGGGCTGGTGCCGGAGCTGGGTGGGAACCAGACTGATCCCAGGGCTGCCCTTGGCCAGCCTGTCCCCGAAGCTCCCTTCCCAAGGCCTTGGCATCTGAACCGCCTCGACCCGCAGGGACCACAGGCTCACCATGCTGCTGCGTGAATCCCTGGCCACCGCTGGCTGCCGCACCACCATGATCGCCCACGTGTCGGATGCGCCAGCCCAGCACGCAGAGACACTCAGCACCGTGCAGCTCGCCGCCCGCATCCACCGCCTGCGCAGGAAGAAGGCCAAGGTGCTCCCCACCTCCTGCCCGCCCCATCTCGGGGCCGTCTCGGCTCCTGTGTCCACTGCAGGCCTCTGCTGGCCTGGTTGGGGTGGGGGTCAGCAGGTGGCCTGGAGCCTGGGTAGATGTCCTATGTGTTCTGATGTCATGAGGCTATGCCCATGTGGCCCTCCCTGGGGGGTGGGGAGCCCAGCCTGAGGTCCCTGGCTGCAGTGGGCAGAATCGGGGCTTGCTGTATGTGGCTTGTGGTGGCCTCACTCCAGCCTGCTGCCCCCGCACAGGCCCTGGGGTGCTCAGGAGAGCCGCACCACCTCTGCAGGGGCTTCCTAGGGACCCCTCTCTGGGGCTGGAGGGTGGAGTTTGGGGCACTCTGGGGTTACACGGCCCTTGGTGTGAGTCCTGGCCACTGGCCTGGGCACACATGCTTGTCTTTTGAGCTTCCCGTTCCCTCCCAGCGCGGGGTGACACCGTTTTCCTTGTAAAGTTGCTAAGAATGGTCACTTAAGTTCTTCCCCTGAGACTCAGTTCCGCTCCCAGCGTTTGGTGGGACATGGTTGGTGGTGCCTGCTGTAGTTTTCATCACAGTGACCGCAGCATTGGCCCTGTGCTCTGGGGAGGGTCGGGGAAGCGGGGGCGTGTAGGGGAGACTGGGCTCGGCAGCTCCACTTTTCTTCCCCCAGTACGCCTCCAGCTCCTCTGGCGGGGAGAGCTCCTGTGAGGAAGGCCGGGCCCGTCGGCCCCCGCACCTGCGGCCCTTCCACCCACGCACTGTGGCCCTGGACCCCGACCGCACGCCTCCCTGCCTGCCCGGTGACCCCGATTACTCCTCCAGCAGCGAGCAGTCCTGTGACACGGTCATCTACGTGGGGCCCGGTGGGGCGGCGCTGTCAGACCGGGAGCTCACCGACAACGAAGGTCCGCCTGACTTCGTGCCCATCATCCCTGCCCTGAGCCGCCACCGGCCCTCCAAGGGTCCCCGAGACGCAGACCACTTCCGCTGCAGCACCTTCGCGGAGCTGCAGGAGCGGCTGGAATGCATGGACGGCAACGAGGGTCCCTCAGGAGGTCCAGGTGGCACCGACGGAGCTCAGGCCAGCCCCGCCCGAGGGGGCCGGAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGCGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAG
|
TCATCCAGTGGCTCCTGGGGATGTCCCTGGGGTTGTCCCCAGCTTGGGCCTGGGGTGGGGATGTGGAGCAGGATCTGGGGGCCCCTGGCTACACCATCATTTGCTTGCCTTGTGGTTCCAGTGTCCGGAGGCCGCAGCCGCCTGCACCTCATCGACCTGGGCAGCTGTGAGGCGGCGGCTGGCAGGGCCGGGGAGGCTGCTGGGGGTCCCCTGTGTCTGTCCCTGTCGGCCCTGGGCAGCGTCATCTTGGCCCTGGTCAACGGAGCCAAGCATGTGCCGTATCGGTGAGTGTAGGGCCTGGGCAGGTGCCGACCAGGGTGGCCCCTTGGTGACCTGGTAAATCCGTGTCTGGTGTGCCCGGTGCTGCTGTGGCCCCCAGCTCCTCAGGGCTTTGCTCCTCCACCACCTGACAGGCCTCGCTGCCCGTGGGCTGCCTGGGGCCCCACGCTGGGCTGGTGCCGGAGCTGGGTGGGAACCAGACTGATCCCAGGGCTGCCCTTGGCCAGCCTGTCCCCGAAGCTCCCTTCCCAAGGCCTTGGCATCTGAACCGCCTCGACCCGCAGGGACCACAGGCTCACCATGCTGCTGCGTGAATCCCTGGCCACCGCTGGCTGCCGCACCACCATGATCGCCCACGTGTCGGATGCGCCAGCCCAGCACGCAGAGACACTCAGCACCGTGCAGCTCGCCGCCCGCATCCACCGCCTGCGCAGGAAGAAGGCCAAGGTGCTCCCCACCTCCTGCCCGCCCCATCTCGGGGCCGTCTCGGCTCCTGTGTCCACTGCAGGCCTCTGCTGGCCTGGTTGGGGTGGGGGTCAGCAGGTGGCCTGGAGCCTGGGTAGATGTCCTATGTGTTCTGATGTCATGAGGCTATGCCCATGTGGCCCTCCCTGGGGGGTGGGGAGCCCAGCCTGAGGTCCCTGGCTGCAGTGGGCAGAATCGGGGCTTGCTGTATGTGGCTTGTGGTGGCCTCACTCCAGCCTGCTGCCCCCGCACAGGCCCTGGGGTGCTCAGGAGAGCCGCACCACCTCTGCAGGGGCTTCCTAGGGACCCCTCTCTGGGGCTGGAGGGTGGAGTTTGGGGCACTCTGGGGTTACACGGCCCTTGGTGTGAGTCCTGGCCACTGGCCTGGGCACACATGCTTGTCTTTTGAGCTTCCCGTTCCCTCCCAGCGCGGGGTGACACCGTTTTCCTTGTAAAGTTGCTAAGAATGGTCACTTAAGTTCTTCCCCTGAGACTCAGTTCCGCTCCCAGCGTTTGGTGGGACATGGTTGGTGGTGCCTGCTGTAGTTTTCATCACAGTGACCGCAGCATTGGCCCTGTGCTCTGGGGAGGGTCGGGGAAGCGGGGGCGTGTAGGGGAGACTGGGCTCGGCAGCTCCACTTTTCTTCCCCCAGTACGCCTCCAGCTCCTCTGGCGGGGAGAGCTCCTGTGAGGAAGGCCGGGCCCGTCGGCCCCCGCACCTGCGGCCCTTCCACCCACGCACTGTGGCCCTGGACCCCGACCGCACGCCTCCCTGCCTGCCCGGTGACCCCGATTACTCCTCCAGCAGCGAGCAGTCCTGTGACACGGTCATCTACGTGGGGCCCGGTGGGGCGGCGCTGTCAGACCGGGAGCTCACCGACAACGAAGGTCCGCCTGACTTCGTGCCCATCATCCCTGCCCTGAGCCGCCACCGGCCCTCCAAGGGTCCCCGAGACGCAGACCACTTCCGCTGCAGCACCTTCGCGGAGCTGCAGGAGCGGCTGGAATGCATGGACGGCAACGAGGGTCCCTCAGGAGGTCCAGGTGGCACCGACGGAGCTCAGGCCAGCCCCGCCCGAGGGGGCCGGAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGTCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGCGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAG
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Task1_train_20381
|
This mutation occurs in KIF26A (kinesin family member 26A) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not specified
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GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGCGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAGCGACAACAGCAGCGTGCTGAGTGGAGAGCTGCCGCCCGCCATGGGCCGCACCGCCCTTTTCCACCACAGCGGTGGCAGCAGTGGCTATGAGAGCCTGCGGCGCGACAGCGAGGCCACCGGCAGCGCCTCCTCCGCCCCTGACTCCATGAGCGAGAGTGGGGCTGCCTCCCCAGGCGCCCGCACCCGCAGCCTCAAGTCCCCCAAGAAGAGGGCCACAGGTGGGTGCAGAGGTGCACAGCCCTCTACAGTTTACGGGCTTTCTGTGTGTAGATGTGCACAGCCCTCTACAGTTTACAGGGCCAGGAGATGCTGGACAGATGGGCACAGCCTTCAAGGTCCCAGACCCACACAGCCGTGGACGGTTTACAGACTCGCCTGGGGCTTTTTGTGTGTGGAGGTGCACGGCCCTCTGCAGTTTATAAACCCCCTGTACTTGCCCTTCTCTGGCCCCACCCTGCCCTGGGGGGCTGATCCTGGTCTGTGTCTGGGTGAGCACAAGGGCAGCCCTGCACAGGTCGCCAGGCTGGGGCACTGGACTCGGGTTTGGGTCCCGGGCCTCGTGCCTCCCTGGCGAGTGTCGAGCTGCCTGGAAGGCCCCCGCCAGGGCTGCCCCAAGGGACAGAACTGCTCAGGTCATGGCAGGGAAAGTGGGAGGCCCTGGTGGTGGTGGGGGCGCCCTTGAGAGCTGTGGGCCTGGCTTGGGGTCGGCTTCCTCCCTGCCCTGGGCAGAGCGCCAGCCTGAGGATTCCTGGACTGGATCCCGAAGGCCTCCCTGTCAGGACTCGGGCCGGCTCCGCAGCGTCCCCGCAGGGGCTGTGCTTGGGCTGGGCCCCGCCTCTGTTCACCCTGTGCCCGGCTCTCCGTTCCAGGTCTGCAGCGGCGGCGCCTGATTCCCGCCCCACTGCCCGACACCACTGCCCTGGGCCGTAAGCCCAGCCTCCCCGGGCAGTGGGTGGACCTGCCCCCGCCCCTGGCTGGCTCCCTGAAGGAGCCGTTCGAGATCAAGGTGTACGAGATCGATGACGTGGAGCGCCTTCAGCGGCCCCGCCCCACCCCGAGGGAGGCCCCCACCCAGGTAGGGCCTTTGGTGGGCTGGGGTCTATGACCCCTGGTGGGGAGCCTGCCGCGGATGGCAGAGTGAGCCATTTGATGGGCTCGCCAGGCCTCTGGGGGTGTGGCTGGGCAGCCCCTGACCTCACTTTCTGTCCACGTTCCTCCCAGGACGCAAAGGTAGGAGCGGCCCTGCCCAGCCCAAGCCTGTTGCAGCTCCGACACTCCCCTTGGGCAGTGGGTGGGTGGCTGGGGGGTCCTGAGGCCACTGCTGCTGTCCGCTGGAATTCTCCCCTGTCGTGGGGAGGGTGGTCCTAGAGCCGAGCCAGGACCCAGACGGGCATGGGTGGGCTGCCCCAGGTCCGCCCCCTGCCCGCCCTTGGAGCCCCACTGTGTGCCTGCCAAGGCCTGGCAGGTGAAGGGAGGCGGGGGCCACATCAGGGCTGCTTGGGGGTCTCTGGGGAGAGGGTCCCATGCCTGAGCCCCCGCCCGCCCTGCCTCCCAGGGTCTGGCGTGCGTCAGTACAAGGCTGCGGCTGGCGGAGCGCAGGCAGCAGCGGCTGCGGGAGGTGCAGGCCAAGCACAAGCACCTGTGTGAGGAGCTGGCCGAGACCCAGGGCCGGCTGATGCTGGAGCCTGGCCGCTGGCTGGAGCAGTGTGAGTCCCGCCCGCCCACGGACCCAGCCCGGCCCACCGTGTGCCCTGACAGCTGCCCTCCCCTCCCAGAGCCCTGTTGCTCTCCTGTACCTCGTGGTGGGAAGGCTGGAAGGCAGGGTCGGCCG
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GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGTGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAGCGACAACAGCAGCGTGCTGAGTGGAGAGCTGCCGCCCGCCATGGGCCGCACCGCCCTTTTCCACCACAGCGGTGGCAGCAGTGGCTATGAGAGCCTGCGGCGCGACAGCGAGGCCACCGGCAGCGCCTCCTCCGCCCCTGACTCCATGAGCGAGAGTGGGGCTGCCTCCCCAGGCGCCCGCACCCGCAGCCTCAAGTCCCCCAAGAAGAGGGCCACAGGTGGGTGCAGAGGTGCACAGCCCTCTACAGTTTACGGGCTTTCTGTGTGTAGATGTGCACAGCCCTCTACAGTTTACAGGGCCAGGAGATGCTGGACAGATGGGCACAGCCTTCAAGGTCCCAGACCCACACAGCCGTGGACGGTTTACAGACTCGCCTGGGGCTTTTTGTGTGTGGAGGTGCACGGCCCTCTGCAGTTTATAAACCCCCTGTACTTGCCCTTCTCTGGCCCCACCCTGCCCTGGGGGGCTGATCCTGGTCTGTGTCTGGGTGAGCACAAGGGCAGCCCTGCACAGGTCGCCAGGCTGGGGCACTGGACTCGGGTTTGGGTCCCGGGCCTCGTGCCTCCCTGGCGAGTGTCGAGCTGCCTGGAAGGCCCCCGCCAGGGCTGCCCCAAGGGACAGAACTGCTCAGGTCATGGCAGGGAAAGTGGGAGGCCCTGGTGGTGGTGGGGGCGCCCTTGAGAGCTGTGGGCCTGGCTTGGGGTCGGCTTCCTCCCTGCCCTGGGCAGAGCGCCAGCCTGAGGATTCCTGGACTGGATCCCGAAGGCCTCCCTGTCAGGACTCGGGCCGGCTCCGCAGCGTCCCCGCAGGGGCTGTGCTTGGGCTGGGCCCCGCCTCTGTTCACCCTGTGCCCGGCTCTCCGTTCCAGGTCTGCAGCGGCGGCGCCTGATTCCCGCCCCACTGCCCGACACCACTGCCCTGGGCCGTAAGCCCAGCCTCCCCGGGCAGTGGGTGGACCTGCCCCCGCCCCTGGCTGGCTCCCTGAAGGAGCCGTTCGAGATCAAGGTGTACGAGATCGATGACGTGGAGCGCCTTCAGCGGCCCCGCCCCACCCCGAGGGAGGCCCCCACCCAGGTAGGGCCTTTGGTGGGCTGGGGTCTATGACCCCTGGTGGGGAGCCTGCCGCGGATGGCAGAGTGAGCCATTTGATGGGCTCGCCAGGCCTCTGGGGGTGTGGCTGGGCAGCCCCTGACCTCACTTTCTGTCCACGTTCCTCCCAGGACGCAAAGGTAGGAGCGGCCCTGCCCAGCCCAAGCCTGTTGCAGCTCCGACACTCCCCTTGGGCAGTGGGTGGGTGGCTGGGGGGTCCTGAGGCCACTGCTGCTGTCCGCTGGAATTCTCCCCTGTCGTGGGGAGGGTGGTCCTAGAGCCGAGCCAGGACCCAGACGGGCATGGGTGGGCTGCCCCAGGTCCGCCCCCTGCCCGCCCTTGGAGCCCCACTGTGTGCCTGCCAAGGCCTGGCAGGTGAAGGGAGGCGGGGGCCACATCAGGGCTGCTTGGGGGTCTCTGGGGAGAGGGTCCCATGCCTGAGCCCCCGCCCGCCCTGCCTCCCAGGGTCTGGCGTGCGTCAGTACAAGGCTGCGGCTGGCGGAGCGCAGGCAGCAGCGGCTGCGGGAGGTGCAGGCCAAGCACAAGCACCTGTGTGAGGAGCTGGCCGAGACCCAGGGCCGGCTGATGCTGGAGCCTGGCCGCTGGCTGGAGCAGTGTGAGTCCCGCCCGCCCACGGACCCAGCCCGGCCCACCGTGTGCCCTGACAGCTGCCCTCCCCTCCCAGAGCCCTGTTGCTCTCCTGTACCTCGTGGTGGGAAGGCTGGAAGGCAGGGTCGGCCG
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Task1_train_20382
|
Consider this mutation in KIF26A (kinesin family member 26A) on Chromosome 14. Is this a benign change or a disease-causing variant?
|
Pathogenic; Cortical dysplasia, complex, with other brain malformations 11
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GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGCGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAGCGACAACAGCAGCGTGCTGAGTGGAGAGCTGCCGCCCGCCATGGGCCGCACCGCCCTTTTCCACCACAGCGGTGGCAGCAGTGGCTATGAGAGCCTGCGGCGCGACAGCGAGGCCACCGGCAGCGCCTCCTCCGCCCCTGACTCCATGAGCGAGAGTGGGGCTGCCTCCCCAGGCGCCCGCACCCGCAGCCTCAAGTCCCCCAAGAAGAGGGCCACAGGTGGGTGCAGAGGTGCACAGCCCTCTACAGTTTACGGGCTTTCTGTGTGTAGATGTGCACAGCCCTCTACAGTTTACAGGGCCAGGAGATGCTGGACAGATGGGCACAGCCTTCAAGGTCCCAGACCCACACAGCCGTGGACGGTTTACAGACTCGCCTGGGGCTTTTTGTGTGTGGAGGTGCACGGCCCTCTGCAGTTTATAAACCCCCTGTACTTGCCCTTCTCTGGCCCCACCCTGCCCTGGGGGGCTGATCCTGGTCTGTGTCTGGGTGAGCACAAGGGCAGCCCTGCACAGGTCGCCAGGCTGGGGCACTGGACTCGGGTTTGGGTCCCGGGCCTCGTGCCTCCCTGGCGAGTGTCGAGCTGCCTGGAAGGCCCCCGCCAGGGCTGCCCCAAGGGACAGAACTGCTCAGGTCATGGCAGGGAAAGTGGGAGGCCCTGGTGGTGGTGGGGGCGCCCTTGAGAGCTGTGGGCCTGGCTTGGGGTCGGCTTCCTCCCTGCCCTGGGCAGAGCGCCAGCCTGAGGATTCCTGGACTGGATCCCGAAGGCCTCCCTGTCAGGACTCGGGCCGGCTCCGCAGCGTCCCCGCAGGGGCTGTGCTTGGGCTGGGCCCCGCCTCTGTTCACCCTGTGCCCGGCTCTCCGTTCCAGGTCTGCAGCGGCGGCGCCTGATTCCCGCCCCACTGCCCGACACCACTGCCCTGGGCCGTAAGCCCAGCCTCCCCGGGCAGTGGGTGGACCTGCCCCCGCCCCTGGCTGGCTCCCTGAAGGAGCCGTTCGAGATCAAGGTGTACGAGATCGATGACGTGGAGCGCCTTCAGCGGCCCCGCCCCACCCCGAGGGAGGCCCCCACCCAGGTAGGGCCTTTGGTGGGCTGGGGTCTATGACCCCTGGTGGGGAGCCTGCCGCGGATGGCAGAGTGAGCCATTTGATGGGCTCGCCAGGCCTCTGGGGGTGTGGCTGGGCAGCCCCTGACCTCACTTTCTGTCCACGTTCCTCCCAGGACGCAAAGGTAGGAGCGGCCCTGCCCAGCCCAAGCCTGTTGCAGCTCCGACACTCCCCTTGGGCAGTGGGTGGGTGGCTGGGGGGTCCTGAGGCCACTGCTGCTGTCCGCTGGAATTCTCCCCTGTCGTGGGGAGGGTGGTCCTAGAGCCGAGCCAGGACCCAGACGGGCATGGGTGGGCTGCCCCAGGTCCGCCCCCTGCCCGCCCTTGGAGCCCCACTGTGTGCCTGCCAAGGCCTGGCAGGTGAAGGGAGGCGGGGGCCACATCAGGGCTGCTTGGGGGTCTCTGGGGAGAGGGTCCCATGCCTGAGCCCCCGCCCGCCCTGCCTCCCAGGGTCTGGCGTGCGTCAGTACAAGGCTGCGGCTGGCGGAGCGCAGGCAGCAGCGGCTGCGGGAGGTGCAGGCCAAGCACAAGCACCTGTGTGAGGAGCTGGCCGAGACCCAGGGCCGGCTGATGCTGGAGCCTGGCCGCTGGCTGGAGCAGTGTGAGTCCCGCCCGCCCACGGACCCAGCCCGGCCCACCGTGTGCCCTGACAGCTGCCCTCCCCTCCCAGAGCCCTGTTGCTCTCCTGTACCTCGTGGTGGGAAGGCTGGAAGGCAGGGTCGGCCG
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GAAGCCCTCGCCACCAGAGGCTGCATCCCCCAGGAAGGCCGTGGGCACCCCGATGGCTGCCAGCACCCCTCGAGGCAGTTCTGGTCCAGACACCCACCAGGGTACCCCTGAGCCCTGCAAGGCCATTGTCTGGGGTGACCAGAGAGAGGACAGCAGCGCTTGGCCTGAGCTGCTGGTCCCGGAAAAGGCTGCAGTGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGTGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAGCGACAACAGCAGCGTGCTGAGTGGAGAGCTGCCGCCCGCCATGGGCCGCACCGCCCTTTTCCACCACAGCGGTGGCAGCAGTGGCTATGAGAGCCTGCGGCGCGACAGCGAGGCCACCGGCAGCGCCTCCTCCGCCCCTGACTCCATGAGCGAGAGTGGGGCTGCCTCCCCAGGCGCCCGCACCCGCAGCCTCAAGTCCCCCAAGAAGAGGGCCACAGGTGGGTGCAGAGGTGCACAGCCCTCTACAGTTTACGGGCTTTCTGTGTGTAGATGTGCACAGCCCTCTACAGTTTACAGGGCCAGGAGATGCTGGACAGATGGGCACAGCCTTCAAGGTCCCAGACCCACACAGCCGTGGACGGTTTACAGACTCGCCTGGGGCTTTTTGTGTGTGGAGGTGCACGGCCCTCTGCAGTTTATAAACCCCCTGTACTTGCCCTTCTCTGGCCCCACCCTGCCCTGGGGGGCTGATCCTGGTCTGTGTCTGGGTGAGCACAAGGGCAGCCCTGCACAGGTCGCCAGGCTGGGGCACTGGACTCGGGTTTGGGTCCCGGGCCTCGTGCCTCCCTGGCGAGTGTCGAGCTGCCTGGAAGGCCCCCGCCAGGGCTGCCCCAAGGGACAGAACTGCTCAGGTCATGGCAGGGAAAGTGGGAGGCCCTGGTGGTGGTGGGGGCGCCCTTGAGAGCTGTGGGCCTGGCTTGGGGTCGGCTTCCTCCCTGCCCTGGGCAGAGCGCCAGCCTGAGGATTCCTGGACTGGATCCCGAAGGCCTCCCTGTCAGGACTCGGGCCGGCTCCGCAGCGTCCCCGCAGGGGCTGTGCTTGGGCTGGGCCCCGCCTCTGTTCACCCTGTGCCCGGCTCTCCGTTCCAGGTCTGCAGCGGCGGCGCCTGATTCCCGCCCCACTGCCCGACACCACTGCCCTGGGCCGTAAGCCCAGCCTCCCCGGGCAGTGGGTGGACCTGCCCCCGCCCCTGGCTGGCTCCCTGAAGGAGCCGTTCGAGATCAAGGTGTACGAGATCGATGACGTGGAGCGCCTTCAGCGGCCCCGCCCCACCCCGAGGGAGGCCCCCACCCAGGTAGGGCCTTTGGTGGGCTGGGGTCTATGACCCCTGGTGGGGAGCCTGCCGCGGATGGCAGAGTGAGCCATTTGATGGGCTCGCCAGGCCTCTGGGGGTGTGGCTGGGCAGCCCCTGACCTCACTTTCTGTCCACGTTCCTCCCAGGACGCAAAGGTAGGAGCGGCCCTGCCCAGCCCAAGCCTGTTGCAGCTCCGACACTCCCCTTGGGCAGTGGGTGGGTGGCTGGGGGGTCCTGAGGCCACTGCTGCTGTCCGCTGGAATTCTCCCCTGTCGTGGGGAGGGTGGTCCTAGAGCCGAGCCAGGACCCAGACGGGCATGGGTGGGCTGCCCCAGGTCCGCCCCCTGCCCGCCCTTGGAGCCCCACTGTGTGCCTGCCAAGGCCTGGCAGGTGAAGGGAGGCGGGGGCCACATCAGGGCTGCTTGGGGGTCTCTGGGGAGAGGGTCCCATGCCTGAGCCCCCGCCCGCCCTGCCTCCCAGGGTCTGGCGTGCGTCAGTACAAGGCTGCGGCTGGCGGAGCGCAGGCAGCAGCGGCTGCGGGAGGTGCAGGCCAAGCACAAGCACCTGTGTGAGGAGCTGGCCGAGACCCAGGGCCGGCTGATGCTGGAGCCTGGCCGCTGGCTGGAGCAGTGTGAGTCCCGCCCGCCCACGGACCCAGCCCGGCCCACCGTGTGCCCTGACAGCTGCCCTCCCCTCCCAGAGCCCTGTTGCTCTCCTGTACCTCGTGGTGGGAAGGCTGGAAGGCAGGGTCGGCCG
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Task1_train_20383
|
This sequence change occurs on Chromosome 14, altering KIF26A (kinesin family member 26A). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Cortical dysplasia, complex, with other brain malformations 11
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TGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGCGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGCGCTACAGCAGCGGCCATGGCAGCGACAACAGCAGCGTGCTGAGTGGAGAGCTGCCGCCCGCCATGGGCCGCACCGCCCTTTTCCACCACAGCGGTGGCAGCAGTGGCTATGAGAGCCTGCGGCGCGACAGCGAGGCCACCGGCAGCGCCTCCTCCGCCCCTGACTCCATGAGCGAGAGTGGGGCTGCCTCCCCAGGCGCCCGCACCCGCAGCCTCAAGTCCCCCAAGAAGAGGGCCACAGGTGGGTGCAGAGGTGCACAGCCCTCTACAGTTTACGGGCTTTCTGTGTGTAGATGTGCACAGCCCTCTACAGTTTACAGGGCCAGGAGATGCTGGACAGATGGGCACAGCCTTCAAGGTCCCAGACCCACACAGCCGTGGACGGTTTACAGACTCGCCTGGGGCTTTTTGTGTGTGGAGGTGCACGGCCCTCTGCAGTTTATAAACCCCCTGTACTTGCCCTTCTCTGGCCCCACCCTGCCCTGGGGGGCTGATCCTGGTCTGTGTCTGGGTGAGCACAAGGGCAGCCCTGCACAGGTCGCCAGGCTGGGGCACTGGACTCGGGTTTGGGTCCCGGGCCTCGTGCCTCCCTGGCGAGTGTCGAGCTGCCTGGAAGGCCCCCGCCAGGGCTGCCCCAAGGGACAGAACTGCTCAGGTCATGGCAGGGAAAGTGGGAGGCCCTGGTGGTGGTGGGGGCGCCCTTGAGAGCTGTGGGCCTGGCTTGGGGTCGGCTTCCTCCCTGCCCTGGGCAGAGCGCCAGCCTGAGGATTCCTGGACTGGATCCCGAAGGCCTCCCTGTCAGGACTCGGGCCGGCTCCGCAGCGTCCCCGCAGGGGCTGTGCTTGGGCTGGGCCCCGCCTCTGTTCACCCTGTGCCCGGCTCTCCGTTCCAGGTCTGCAGCGGCGGCGCCTGATTCCCGCCCCACTGCCCGACACCACTGCCCTGGGCCGTAAGCCCAGCCTCCCCGGGCAGTGGGTGGACCTGCCCCCGCCCCTGGCTGGCTCCCTGAAGGAGCCGTTCGAGATCAAGGTGTACGAGATCGATGACGTGGAGCGCCTTCAGCGGCCCCGCCCCACCCCGAGGGAGGCCCCCACCCAGGTAGGGCCTTTGGTGGGCTGGGGTCTATGACCCCTGGTGGGGAGCCTGCCGCGGATGGCAGAGTGAGCCATTTGATGGGCTCGCCAGGCCTCTGGGGGTGTGGCTGGGCAGCCCCTGACCTCACTTTCTGTCCACGTTCCTCCCAGGACGCAAAGGTAGGAGCGGCCCTGCCCAGCCCAAGCCTGTTGCAGCTCCGACACTCCCCTTGGGCAGTGGGTGGGTGGCTGGGGGGTCCTGAGGCCACTGCTGCTGTCCGCTGGAATTCTCCCCTGTCGTGGGGAGGGTGGTCCTAGAGCCGAGCCAGGACCCAGACGGGCATGGGTGGGCTGCCCCAGGTCCGCCCCCTGCCCGCCCTTGGAGCCCCACTGTGTGCCTGCCAAGGCCTGGCAGGTGAAGGGAGGCGGGGGCCACATCAGGGCTGCTTGGGGGTCTCTGGGGAGAGGGTCCCATGCCTGAGCCCCCGCCCGCCCTGCCTCCCAGGGTCTGGCGTGCGTCAGTACAAGGCTGCGGCTGGCGGAGCGCAGGCAGCAGCGGCTGCGGGAGGTGCAGGCCAAGCACAAGCACCTGTGTGAGGAGCTGGCCGAGACCCAGGGCCGGCTGATGCTGGAGCCTGGCCGCTGGCTGGAGCAGTGTGAGTCCCGCCCGCCCACGGACCCAGCCCGGCCCACCGTGTGCCCTGACAGCTGCCCTCCCCTCCCAGAGCCCTGTTGCTCTCCTGTACCTCGTGGTGGGAAGGCTGGAAGGCAGGGTCGGCCGGGCCAAGATGCCTTTCCTGGGGCCTCTGGGGGGCCAGGTGGCTGCCCCCAGCCTCGGGCCTGACGCAGGTGCCCCTCCCCTCTCCTCCCCTCCCCAGTTGAGGTGGACCCGGAGCTGGAGCCCGAGTCGGCCGAGTACCTGGCGGCCCTGGAGCGAGCCACGGCGGCCCTGGAGCAGTGCGTGAACCTGTGCAA
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TGAGTGGAGGCAGGAGGCCACTGCCCAGCCCGGCTCCCCCACCTCCTCAGTTGCTGGAAGCCTGCAGAGCCCCAGAAGAGCCTGGGGGAGGGGGCACTGATGGAGTGGCACGGACCCCTCCCGTGGGCATGAGTGGGCAGGTGGCTGGGTCCCCGATGCTTCCTGGGGCCACCTGCCCCCGCCTGGCTGCTGGCAGTCGCTGTCCGGAGCGGGGCCTGCTCACCACCACAGTGACCCTGCAGCGGCCAGTGGAGCTCAACGGCGAGGACGAGCTGGTGTTCACGGTGGTGGAGGAGCTGTCCCTGGGGGCGCTTGCCGGAGCTGGGCGGCCCACCAGCCTGGCTAGCTTCGACAGTGACTGCTCCCTGCGGGCCCTGGCCTCGGGGTCCCGGCCAGTCAGCATCATCAGCAGCATCAATGATGAGTTTGACGCCTACACCTCTCAGGCCCCTGAGGGGGGGCCCCTGGAGGGGGCAGCCTGGGCCGGCAGCAGTCACGGCTCCTCCATCAGCTCCTGGCTCAGCGAGGTCAGCGTCTGCACTGCCGACAGCCGTGACCCCACGCCGCAGCCCCGCTTCAGCCCCGACTCGCTGGCAGGGCTTGACCCTGGGGGCCCCCCTGCCCTGGATGGTTCCCTGGGGGATGGAAGCTCTGGGTTCCTGGGGCCAGACAGACCTGACAGTCCTGGGCCAACCTGGGGTCCGTGCCCTGGGGAAGTGGCTGCAGTGGCCCCATCCCGACCCGGCAGGGAGCCCCAGGCCGGGCCCTCGCGGTGGGCATCCGCAGCCCAGACCATCCACTCCAGCCTCCCCCGGAAACCGAGGACTGCCTCTGCCACCACCCGTGTGGGCTGTGCTCGCCTGGGCCAGAGCCCACCTGGCCGTGGAGGCCTGTTTGAGGACCCATGGCTGCTCCGGGTAGGGGAGTGTGATACCCAGGCAGCTTCTGCTGGCAGGGCCCCCAGCCCCACACTTGGCTCCCCCCGGCTGCCTGAGGCCCAGGTGATGCTAGCCTGTGCCCAGAGAGTGGTGGACGGGTGTGAGGTGGCAGCCAGGGCGGCCCGCAGGCCAGAGGCTGTGGCTCGGATCCCACCGCTGCGGAGGGGTGCCACCACGCTGGGTGTGACAACGCCAGCTGTGTCCTGGGGAGATGCTCCCACGGAGGTGGTGGCCTGCTCGGGGAGCCTGAAGGCCTCCCCCACCAGCAAGAAGGGTCTGGCTCCCAAGGCGGGCTTCCTCCCGAGGCCCAGTGGGGCGGCCCCCCCGGCCCCACCCACGCGGAAGTCCAGCCTGGAGCAGAGGAGCAGCCCGGCCTCGGCCCCTCCGCATGCTGTGAACCCGGCGCGGGTCGGGGCTGCTGCTGTCCTTCGAGGGGAGGAGGAGCCCAGACCCAGCAGCCGGGCTGACCACTCTGTCCCCAGGGCCACGTCCAGCCTGAAGGCCCGGGCCAGCAAGGTAGAAGCAGCACACCGTCTTGCCGGACACGCGTCTCTGGAGCGGTACGAAGGCCTGGCGCACAGCAGCAGCAAGGGCCGGGAAGCCCCTGGGCGGCCTCCCCGGGCTGTACCCAAGCTGGGTGTGCCACCCTCCAGCCCCACACACGGTCCAGCTCCCGCCTGTAGGAGCGGCGCAGCCAAGGCTGTGGGGGCCCCCAAGCCCCCTGTTGGTGGAGGCAAGGGCCGTGGCCTAGTGGCTGGTGGGTCGCGGGCTCTGGGGCCTTCGGTGAAGCTGTCTACGGCCTCTGTGACGGGCAGGAGCCCTGGCGGCCCTGTGGCCGGTCCCAGAGCAGCCCCACGGGCCGGGCCCAGTGTCGGGGCGAAGGCTGGCCGGGGTACCGTCATGGGCACAAAGCAGGCGCTCCGGGCTGCTCACAGCCGCGTCCATGAGCTGTCAGCCAGTGGAGCCCCGGGCCGAGGTGGCTCCTCGTGGGGCTCGGCGGACTCAGACAGCGGCCATGACAGCGGCGTGAACGTGGGGGAGGAGCGGCCACCCACGGGCCCGGCCCTGCCCTCCCCCTACAGCAAGGTGACCGCCCCACGGCGGCCCCAGTGCTACAGCAGCGGCCATGGCAGCGACAACAGCAGCGTGCTGAGTGGAGAGCTGCCGCCCGCCATGGGCCGCACCGCCCTTTTCCACCACAGCGGTGGCAGCAGTGGCTATGAGAGCCTGCGGCGCGACAGCGAGGCCACCGGCAGCGCCTCCTCCGCCCCTGACTCCATGAGCGAGAGTGGGGCTGCCTCCCCAGGCGCCCGCACCCGCAGCCTCAAGTCCCCCAAGAAGAGGGCCACAGGTGGGTGCAGAGGTGCACAGCCCTCTACAGTTTACGGGCTTTCTGTGTGTAGATGTGCACAGCCCTCTACAGTTTACAGGGCCAGGAGATGCTGGACAGATGGGCACAGCCTTCAAGGTCCCAGACCCACACAGCCGTGGACGGTTTACAGACTCGCCTGGGGCTTTTTGTGTGTGGAGGTGCACGGCCCTCTGCAGTTTATAAACCCCCTGTACTTGCCCTTCTCTGGCCCCACCCTGCCCTGGGGGGCTGATCCTGGTCTGTGTCTGGGTGAGCACAAGGGCAGCCCTGCACAGGTCGCCAGGCTGGGGCACTGGACTCGGGTTTGGGTCCCGGGCCTCGTGCCTCCCTGGCGAGTGTCGAGCTGCCTGGAAGGCCCCCGCCAGGGCTGCCCCAAGGGACAGAACTGCTCAGGTCATGGCAGGGAAAGTGGGAGGCCCTGGTGGTGGTGGGGGCGCCCTTGAGAGCTGTGGGCCTGGCTTGGGGTCGGCTTCCTCCCTGCCCTGGGCAGAGCGCCAGCCTGAGGATTCCTGGACTGGATCCCGAAGGCCTCCCTGTCAGGACTCGGGCCGGCTCCGCAGCGTCCCCGCAGGGGCTGTGCTTGGGCTGGGCCCCGCCTCTGTTCACCCTGTGCCCGGCTCTCCGTTCCAGGTCTGCAGCGGCGGCGCCTGATTCCCGCCCCACTGCCCGACACCACTGCCCTGGGCCGTAAGCCCAGCCTCCCCGGGCAGTGGGTGGACCTGCCCCCGCCCCTGGCTGGCTCCCTGAAGGAGCCGTTCGAGATCAAGGTGTACGAGATCGATGACGTGGAGCGCCTTCAGCGGCCCCGCCCCACCCCGAGGGAGGCCCCCACCCAGGTAGGGCCTTTGGTGGGCTGGGGTCTATGACCCCTGGTGGGGAGCCTGCCGCGGATGGCAGAGTGAGCCATTTGATGGGCTCGCCAGGCCTCTGGGGGTGTGGCTGGGCAGCCCCTGACCTCACTTTCTGTCCACGTTCCTCCCAGGACGCAAAGGTAGGAGCGGCCCTGCCCAGCCCAAGCCTGTTGCAGCTCCGACACTCCCCTTGGGCAGTGGGTGGGTGGCTGGGGGGTCCTGAGGCCACTGCTGCTGTCCGCTGGAATTCTCCCCTGTCGTGGGGAGGGTGGTCCTAGAGCCGAGCCAGGACCCAGACGGGCATGGGTGGGCTGCCCCAGGTCCGCCCCCTGCCCGCCCTTGGAGCCCCACTGTGTGCCTGCCAAGGCCTGGCAGGTGAAGGGAGGCGGGGGCCACATCAGGGCTGCTTGGGGGTCTCTGGGGAGAGGGTCCCATGCCTGAGCCCCCGCCCGCCCTGCCTCCCAGGGTCTGGCGTGCGTCAGTACAAGGCTGCGGCTGGCGGAGCGCAGGCAGCAGCGGCTGCGGGAGGTGCAGGCCAAGCACAAGCACCTGTGTGAGGAGCTGGCCGAGACCCAGGGCCGGCTGATGCTGGAGCCTGGCCGCTGGCTGGAGCAGTGTGAGTCCCGCCCGCCCACGGACCCAGCCCGGCCCACCGTGTGCCCTGACAGCTGCCCTCCCCTCCCAGAGCCCTGTTGCTCTCCTGTACCTCGTGGTGGGAAGGCTGGAAGGCAGGGTCGGCCGGGCCAAGATGCCTTTCCTGGGGCCTCTGGGGGGCCAGGTGGCTGCCCCCAGCCTCGGGCCTGACGCAGGTGCCCCTCCCCTCTCCTCCCCTCCCCAGTTGAGGTGGACCCGGAGCTGGAGCCCGAGTCGGCCGAGTACCTGGCGGCCCTGGAGCGAGCCACGGCGGCCCTGGAGCAGTGCGTGAACCTGTGCAA
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Task1_train_20384
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The gene INF2 (inverted formin 2) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Focal segmental glomerulosclerosis 5
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AGGGGCGTTGGGGACCTGAGGCTGCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTG
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AGGGGCGTTGGGGACCTGAGGCTGCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCCCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTG
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Task1_train_20385
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A variant on Chromosome 14 in gene INF2 (inverted formin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Focal segmental glomerulosclerosis 5
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GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCC
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GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACGACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCC
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Task1_train_20386
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Gene INF2 (inverted formin 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCC
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GCCTGGGAGGGACCCGGCTGTCTCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACGACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCC
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Task1_train_20387
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A variant has been detected on Chromosome 14 in INF2 (inverted formin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Focal segmental glomerulosclerosis 5
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TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGG
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TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCCGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGG
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Task1_train_20388
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The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGG
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TCTGGCAGCTCAGCGGTCAGCAGCGATGAGAAGCCAGGGGAGCGTGAGGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCCGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGG
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Task1_train_20389
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Chromosome 14 houses a mutation in gene INF2 (inverted formin 2). 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 dominant intermediate E
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GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCC
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GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCAGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCC
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Task1_train_20390
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This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Focal segmental glomerulosclerosis 5
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GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCC
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GGAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCAGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCC
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Task1_train_20391
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A variant found in Chromosome 14 affects INF2 (inverted formin 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Focal segmental glomerulosclerosis 5
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GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCT
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GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGTCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCT
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Task1_train_20392
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A change on Chromosome 14 affects gene INF2 (inverted formin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCT
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GAGCAGCCCAGGACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGTCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCT
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Task1_train_20393
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A change on Chromosome 14 affects gene INF2 (inverted formin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Focal segmental glomerulosclerosis 5
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ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGG
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ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCCGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGG
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Task1_train_20394
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The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGG
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ACAGGGCCCAGAGTGGGTGGGCAGAGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCCGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGG
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Task1_train_20395
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This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Focal segmental glomerulosclerosis 5
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AGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCAT
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AGGTGGCCGGAAGGTCTTGCGCATCTGGGTGAGTGGACGGCCACTGGGTGACCAAGAGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTGGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCAT
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Task1_train_20396
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The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Focal segmental glomerulosclerosis 5
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AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGC
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AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCCGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGC
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Task1_train_20397
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A mutation in INF2 (inverted formin 2), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGC
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AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCCGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGC
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Task1_train_20398
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The gene INF2 (inverted formin 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGC
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AGGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCCGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGC
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Task1_train_20399
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This variant lies on Chromosome 14 and affects the gene INF2 (inverted formin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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GGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCC
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GGGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTTCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCC
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Subsets and Splits
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