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_14300
|
This is a variant in LGI1 (leucine rich glioma inactivated 1), located on Chromosome 10. Is this mutation a likely cause of disease or not?
|
Pathogenic; LGI1-related disorder
|
AGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCAAATCAGTGAGTGTGGGAGGTATAATATTTGTGTGTACCAATTTCTTCCTTATTCCATTCTCTCCACTGCTGATGCTGCCTATACTGAATGCAATGAAAGTCTGGAACCTAAGGAAGCCTTTGGGTGTTAGCTTACCTTGGAGTCAAGCTGAGCAGTCTTCTTGTTTTCCAGAGCCATGAAGTGAGAAGAGACACAATTGCCAAAGCTGTGATGGAAATCATACAGCTTTGAATTTGTTTTAGTAACATGGAATTCTAACATGTGTCACTGTTCATTAGTACTGGCTTTTCAGAGCCTCGTGAATTACTTGGGTACAAATCCATGACATTAGAGGCATGAGGGATTAGAAGACAATCCAACACCACTCTAGGATTGATAGTTTAGGAAGAAATGCAAGAAATCATCTCATTTTGTTTGGTTGGTTCATTCCTACCCCCCATTCTCCACATTTTTATGAAAAATTTTAAGTATATATAAATGTAGACAAAATAGTAAAATTCACTCTTATGTATCCATCTTTCAGCTTCAAAAATCATCAACTCATGCCAATTCTTCTCTAACCCCTTGTTGTCCCCCTCCTCTGATTATTTGAAGCAATCCCAGATGACAAATAAATTACTCATAAATGTTCACAAAGTGAGATCTCCTAGTTTTAATTCCTGTAGTTCACAGGTTCAGCGGTGAATTCACTAAGCTAGTTAGTGGTACTTATATTTAATCCCTGGCTTCAGAAGTAAAAGTGATAAGCTTTACTAACAGAATTACTATTATTATTATTACATTATGACATAATATAATATATTCTTGTACTGTTTGGCCTAAAACTACCTCTTTTAAGCCTCTCATTCAGTTCTCCAAGGAGTTCAACAGGGTGTGGGATGGCTGATTGATGTTCTTTTTCATCAGTAATTTCTAAACCAAATCCTTGTGGATTTTGAAATTGCAAATATATTTGTCCAAGTAAAAGCTTCAACTATTTGGTAATAAAATGGGTCTAAGACTCTTCCCAAACCTCATGTTTCCCATTTTCAGTCTGTGTGCAAAGGAGGAGGTTGGCTGTTGTTCATGGAGCCAGTGTCAACTGCCTGTCTGTTACGAGATGTCACAGCACAACCAGGCATGCAGCTTACTTTTTTTTAGGTTTCCCAGGCTCAAAACCGCAAAGTACCATTGTTTTTGCCAGTTAGAACACTCCAGAGGTTTCTAGAACAAGCAGAAAAGATTGTTAGTGCCTTTGTCATGAAAATATGTAAAATGTTGCTTTGGCTGCTTTGGCTATCATAGCTGCTCTGATTGTATCTCAAAATGTCACCCAGGGTATGTGGCAGTCATTGTGAGGAATCGGGCACCAGGCACCCCTTGATGAGCCTTTGATGAGGAGATGATTAGGAGTAAAAAAATGCTGCATAGATTATCTGCATAACTAACACTGTAGCAGACAGCCATGCAGACATTTTTCTGTATACAACTCCCACTCATTTTTCTGAGAGATAAAAGCAGCCAAGATTGACAATCTGTCAGTTTCACCATTTTCATTGTGTACTTTTTCTGGGCAGGTTATTCACATCGAACTCCTTTGATGTGATCAGTGATGATGCTTTTATTGGTCTTCCACATCTAGAGTATTTGTAAGTAAAAAAGCTTTTTTAAAACATGATGATTCAGGACAAGTACTCTCAAGTTCCTGTAACTGTTTGACAAAAAATATTATAACTTATTGCAGATTCATAGAAAACAACAACATCAAGTCAATTTCAAGACATACTTTCCGGGGACTAAAGTCATTAATTCACTTGTAAGTATGAATGTTGCTATTACTTTTTAAGCTTGCTAATGGACAATGCAGTTTGATCACCTGTGGTTAATGCACCTACTTTATGAGTGTCCATAAAAATTTAAGAAACCCAAATGACTTCTCTCCATGCACACTTGCCATCTTTCCCTGTCATCTGTCAGAGGGTGTTCAATAAATTGATTACTATTAATATTTTTATCCAAAACCAACCACAATTAGAAAAGCAATCTAATGCAGGGAAATTGTGTGCCTGAAATAACTTCTTTTATTATCTACATCATTACTTGCTTCATGGATCATTATGAGTTGACTGTATAATTTGATATCAGCTTTTTTTCCCTCTATAAGCCCTCACTTTATATACATTTAAACATAATATAGCCACAGGCGATGTCTTCATAGTACCTGATCAACTTGTTTATCAGTGAAATATTTAATTACTCAATGGATGATTACAGCTAACAGCAGTTGTTCTTAACAGGGAACAATTTTGTCTCCCAGGGAACATTTGGCAATATCTAGAGACATGTTTGGTTGTCACAACTGGGGATGTAAATGGCATCTAGTGGGTGAAAGGCAGGGATTCTTCTACTGCTTAGGACAGCCCTTCACGACCAAGAATTATCCAGCCTAAAGTGGCATCGTGGGCAGGTTGAGAAACCCTGAACAACAGGACCCAAACAATTTGTTTCTTCTAGCCTCCCTCACCCTCTACAGACAAACACATTCACACACACACACACACACACACACACACACACACACAGGCACACATGTGCATACACACACACACTCACACACACACTCTCACATACACACAGATTATTTTAAGGAAACTAGAAGAGCATGGAAAGAAAAGGCACTAACATTTACATCACTTTTCATCTAATCCTCTCAATAATCCTGCCAAACAGGCACAATAATCCCTGTTTCAGAAATGAGGAAACAGTCTTGGAGGGGATATATGCCTCGTGAGCTGATTAGTTACGGAATTATGAGAACATCTACTTAATTGTTGAATTGCAGTGACTCTTCATCCTTTCAACAGCTATTTCTCAATCTACCTAATATGTATCTTATCAGTTCTAGATACAGATGCAAGAGATCCAAGTGTCATAGTCATTCTGTCAGCTTTAACCTGTTCTCTCATCATACTTCATTCCCAGCTCTGCTCTAGGCCCTAGGATGCAGCAGGGAACAAAGGAGACAAAAATGCCTGTCCTTGGACTGAGCCTGATTTCCAGTGTGTCCACGCGGTTGTCACTCTGCCTCCACCAGGCCCCTTTCTCTCCTGTTGCTTGTTTTGTAGCAAAGAGAAGCTAATAGCCAGATATATTTTACAAAATCATGCCTTTCAAGGCTTCTGTATAGAGTTATTGTAATAAAAAAACAGTGTTTGCAATACTACTCTTCATGTCAATGACATGATATGATGCAAAGATGGCTGTTTACAGAATGAATGCTATGCAATTTTATCACAGAGCTCAACACTGCCAAACCTCATTTTTCAGACAACAAATAAACAAAAGAAACAAATATATGGAAGGAGAAATGGAAATTCATGACCTCAACTTGAAATCCACTAGATTCACATACATCCCAATCCACATGGCCTCTGTCCAGTGCTTAGCATCATGAGAGCTGTAGGGAGGATGCACAGCCCAATTCATCCAGCTGTGTCTCCTCTCCAGCCTAAAAGCCTGTGGTTTCTCTCAGGCTCCATGCACAGAACAGGAAAAAATGTTTCCCTGTCTTGGAAGGAAGGAGGGAAGGAAAGAAAGAAGGAAGGAAGGAAGGAGGGAGGGAGCGAGGGAGGGAGGGAGGGGAGGGGAGGGGAAAGGAGGGAAGGAAGGGAGGAAAGAGGAAAGGAGGGAGGGAGAAAGAAAAAGAGGAAGGAAGATGAGAGAGGAAGGGAAGGGGGAGAAAGGAGGGAAGGGGAAGAGGAAAAAGGGAAAGAAAAAGTCTGTTTGACATCCTAGTGTAGGACACCCATTTTGTTTACTGGAGCCTATGATGTGTATC
|
AGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCAAATCAGTGAGTGTGGGAGGTATAATATTTGTGTGTACCAATTTCTTCCTTATTCCATTCTCTCCACTGCTGATGCTGCCTATACTGAATGCAATGAAAGTCTGGAACCTAAGGAAGCCTTTGGGTGTTAGCTTACCTTGGAGTCAAGCTGAGCAGTCTTCTTGTTTTCCAGAGCCATGAAGTGAGAAGAGACACAATTGCCAAAGCTGTGATGGAAATCATACAGCTTTGAATTTGTTTTAGTAACATGGAATTCTAACATGTGTCACTGTTCATTAGTACTGGCTTTTCAGAGCCTCGTGAATTACTTGGGTACAAATCCATGACATTAGAGGCATGAGGGATTAGAAGACAATCCAACACCACTCTAGGATTGATAGTTTAGGAAGAAATGCAAGAAATCATCTCATTTTGTTTGGTTGGTTCATTCCTACCCCCCATTCTCCACATTTTTATGAAAAATTTTAAGTATATATAAATGTAGACAAAATAGTAAAATTCACTCTTATGTATCCATCTTTCAGCTTCAAAAATCATCAACTCATGCCAATTCTTCTCTAACCCCTTGTTGTCCCCCTCCTCTGATTATTTGAAGCAATCCCAGATGACAAATAAATTACTCATAAATGTTCACAAAGTGAGATCTCCTAGTTTTAATTCCTGTAGTTCACAGGTTCAGCGGTGAATTCACTAAGCTAGTTAGTGGTACTTATATTTAATCCCTGGCTTCAGAAGTAAAAGTGATAAGCTTTACTAACAGAATTACTATTATTATTATTACATTATGACATAATATAATATATTCTTGTACTGTTTGGCCTAAAACTACCTCTTTTAAGCCTCTCATTCAGTTCTCCAAGGAGTTCAACAGGGTGTGGGATGGCTGATTGATGTTCTTTTTCATCAGTAATTTCTAAACCAAATCCTTGTGGATTTTGAAATTGCAAATATATTTGTCCAAGTAAAAGCTTCAACTATTTGGTAATAAAATGGGTCTAAGACTCTTCCCAAACCTCATGTTTCCCATTTTCAGTCTGTGTGCAAAGGAGGAGGTTGGCTGTTGTTCATGGAGCCAGTGTCAACTGCCTGTCTGTTACGAGATGTCACAGCACAACCAGGCATGCAGCTTACTTTTTTTTAGGTTTCCCAGGCTCAAAACCGCAAAGTACCATTGTTTTTGCCAGTTAGAACACTCCAGAGGTTTCTAGAACAAGCAGAAAAGATTGTTAGTGCCTTTGTCATGAAAATATGTAAAATGTTGCTTTGGCTGCTTTGGCTATCATAGCTGCTCTGATTGTATCTCAAAATGTCACCCAGGGTATGTGGCAGTCATTGTGAGGAATCGGGCACCAGGCACCCCTTGATGAGCCTTTGATGAGGAGATGATTAGGAGTAAAAAAATGCTGCATAGATTATCTGCATAACTAACACTGTAGCAGACAGCCATGCAGACATTTTTCTGTATACAACTCCCACTCATTTTTCTGAGAGATAAAAGCAGCCAAGATTGACAATCTGTCAGTTTCACCATTTTCATTGTGTACTTTTTCTGGGCAGGTTATTCACATCGAACTCCTTTGATGTGATCAGTGATGATGCTTTTATTGGTCTTCCACATCTAGAGTATTTGTAAGTAAAAAAGCTTTTTTAAAACATGATGATTCAGGACAAGTACTCTCAAGTTCCTGTAACTGTTTGACAAAAAATATTATAACTTATTGCAGATTCATAGAAAACAACAACATCAAGTCAATTTCAAGACATACTTTCTGGGGACTAAAGTCATTAATTCACTTGTAAGTATGAATGTTGCTATTACTTTTTAAGCTTGCTAATGGACAATGCAGTTTGATCACCTGTGGTTAATGCACCTACTTTATGAGTGTCCATAAAAATTTAAGAAACCCAAATGACTTCTCTCCATGCACACTTGCCATCTTTCCCTGTCATCTGTCAGAGGGTGTTCAATAAATTGATTACTATTAATATTTTTATCCAAAACCAACCACAATTAGAAAAGCAATCTAATGCAGGGAAATTGTGTGCCTGAAATAACTTCTTTTATTATCTACATCATTACTTGCTTCATGGATCATTATGAGTTGACTGTATAATTTGATATCAGCTTTTTTTCCCTCTATAAGCCCTCACTTTATATACATTTAAACATAATATAGCCACAGGCGATGTCTTCATAGTACCTGATCAACTTGTTTATCAGTGAAATATTTAATTACTCAATGGATGATTACAGCTAACAGCAGTTGTTCTTAACAGGGAACAATTTTGTCTCCCAGGGAACATTTGGCAATATCTAGAGACATGTTTGGTTGTCACAACTGGGGATGTAAATGGCATCTAGTGGGTGAAAGGCAGGGATTCTTCTACTGCTTAGGACAGCCCTTCACGACCAAGAATTATCCAGCCTAAAGTGGCATCGTGGGCAGGTTGAGAAACCCTGAACAACAGGACCCAAACAATTTGTTTCTTCTAGCCTCCCTCACCCTCTACAGACAAACACATTCACACACACACACACACACACACACACACACACACACAGGCACACATGTGCATACACACACACACTCACACACACACTCTCACATACACACAGATTATTTTAAGGAAACTAGAAGAGCATGGAAAGAAAAGGCACTAACATTTACATCACTTTTCATCTAATCCTCTCAATAATCCTGCCAAACAGGCACAATAATCCCTGTTTCAGAAATGAGGAAACAGTCTTGGAGGGGATATATGCCTCGTGAGCTGATTAGTTACGGAATTATGAGAACATCTACTTAATTGTTGAATTGCAGTGACTCTTCATCCTTTCAACAGCTATTTCTCAATCTACCTAATATGTATCTTATCAGTTCTAGATACAGATGCAAGAGATCCAAGTGTCATAGTCATTCTGTCAGCTTTAACCTGTTCTCTCATCATACTTCATTCCCAGCTCTGCTCTAGGCCCTAGGATGCAGCAGGGAACAAAGGAGACAAAAATGCCTGTCCTTGGACTGAGCCTGATTTCCAGTGTGTCCACGCGGTTGTCACTCTGCCTCCACCAGGCCCCTTTCTCTCCTGTTGCTTGTTTTGTAGCAAAGAGAAGCTAATAGCCAGATATATTTTACAAAATCATGCCTTTCAAGGCTTCTGTATAGAGTTATTGTAATAAAAAAACAGTGTTTGCAATACTACTCTTCATGTCAATGACATGATATGATGCAAAGATGGCTGTTTACAGAATGAATGCTATGCAATTTTATCACAGAGCTCAACACTGCCAAACCTCATTTTTCAGACAACAAATAAACAAAAGAAACAAATATATGGAAGGAGAAATGGAAATTCATGACCTCAACTTGAAATCCACTAGATTCACATACATCCCAATCCACATGGCCTCTGTCCAGTGCTTAGCATCATGAGAGCTGTAGGGAGGATGCACAGCCCAATTCATCCAGCTGTGTCTCCTCTCCAGCCTAAAAGCCTGTGGTTTCTCTCAGGCTCCATGCACAGAACAGGAAAAAATGTTTCCCTGTCTTGGAAGGAAGGAGGGAAGGAAAGAAAGAAGGAAGGAAGGAAGGAGGGAGGGAGCGAGGGAGGGAGGGAGGGGAGGGGAGGGGAAAGGAGGGAAGGAAGGGAGGAAAGAGGAAAGGAGGGAGGGAGAAAGAAAAAGAGGAAGGAAGATGAGAGAGGAAGGGAAGGGGGAGAAAGGAGGGAAGGGGAAGAGGAAAAAGGGAAAGAAAAAGTCTGTTTGACATCCTAGTGTAGGACACCCATTTTGTTTACTGGAGCCTATGATGTGTATC
|
Task1_train_14301
|
Here’s a variant in LGI1 (leucine rich glioma inactivated 1) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Epilepsy, familial temporal lobe, 1
|
TGAATGATATGGTTTAATTCCAGGAGAATGCCCAAATCAGGATTCTTCCAAGAGAGTCCTGGACAGACCATAGTTATCCTCTCTGGTTTACAGTAGCCTGAAAGGTTGCCACTCATTAGTGTGGGTCAGAGTTCTCTTGGGAGACTAGGTCAGTTCTGGGAGTGTCTTGGAAGTTAGAACACACTCCATGGGTGACGTGGGATGTAGCTCATTGGGGGTCCTTTACCCCATTTTTGTGTCAGTCTATACCCTACACTAGTGAAAGACAAAACAAAAAAATATTGAAATTGGCTCAGTCTCTCATGGGAATCCCAAGATGGGTTTAGCCTTTTGGACCTACTCTAATATGCCCAAATCAAGAATTATCTTAGAAGTACAAGGATCCATGCCAACTTGCCTTTTAGTGGATTTCTTGGCTTTCTTGAAAGTATCCTCTAAAAAACATTTTTAAATGTTTGGGCGTTTAAAAATTATTTATGTGTGGTGTGAAGAGTAGGCAGCACCTATCTTAAGAATTCTGTGTGACCAGGAAAGGAGGTGGAATTCCTGAACAGAAGCAATGCAAATACACAGAGAACTTGGTGAGTTGGGGTCATATGTGGATATGTAAATGGTCTATGCTGTATAACTTATTACAGGCATGAGCGATTGTATGCCTGTGTTAACTCTGCTGTGTCAAAGTCATTTCCTATTTAAACTGAATTTGTAGACCACGGAAGAGGATCAGGATTAATTATGTCTGTGAGGAAGAAGAAAAGCAAATAGCTCACTTGATTAAATACATTACAATAATCACTACATTCTGTCCTTTAGACCTGTGCTGTCCAATAGGGTAGCCACCAGACCTTATGGTCACTGAGCACCTAAAATGTGCTCCTAGTACAACTGAGAGACTGAATTTTAAATTTTACTTAATTTTTTAACAGTTAAATTTAAATTTAAAAGCTGATTCTCAGCTCAATTATTGGAAAATGTTAAGTACGCTTGGAATAATTTGGGTATATACACCTATTTTTTTCAATTATGAATTTTATGACATCTAAATATAGATCACCTATTTCTGGTAAAATTTAGCATCTGAATTGAGATATATTGTAGGTATAAAATACACACTGGACTTCAAAGACTTAGTATAAAAAAGGAATGTAAAATATCTCAATAATGTTTATATTGATGATGTGTCAAAATGATAATCTTTTGTATGTATTGGGTTAAATAAAACATATTATTAAAATGAATTATACCTGCTTCTTTTTACTTTTTTAATGTGGCTATAGAAAATTTTAAATTACAATTACGGTTCATATACTGTTTCTATTGACAGCACAGCCCTAGACTAAGCCGCTTTGGAATTCAAGAGGGAGTAAGTGATGAGGTTCCATTGACTGGGTAGTCTTCAAGTGTGCATGGTGCTAACTCTCTGAGCCCAAAGTGAATGAGTGGTCAGTCAGGTTCCAGGCAGGTTATAGGGCAGGATGCAACGCCGGGTAAGGTCATTCTGCACATGTTAATTGTTGATGTAGAACTCTTTCCTGCGTGGGTAGGGCCCTTGTACAGCAAAAGCAGCTGAAGTTTGTCTTTCAGGGACCTGAGGGGTAATTCATTTAATTGTGACTGTAAACTGAAATGGCTAGTGGAATGGCTTGGCCACACCAATGCAACTGTTGAAGACATCTACTGCGAAGGCCCCCCAGAATACAAGAAGCGCAAAATCAATAGTCTCTCCTCGAAGGATTTTGATTGCATCATTACAGGTAATGTACTCATCATCATTCCACCTCAAAAAATTAAAATAAGGGCTACCTTTTTTTTTCATGTGCAGGAACTGATATTTTTTATATCTTAAAAACTAGCTGAGCAACTTAATTTTAAAAAAATTATGAACCATTGACAATGCTTCATGTGTTTAAAAGTAAAATGGCCATTTTACTATTCTCTGAAATAAATGTATTTCTTGTGAATATTTAAGATCTAGCCAAGGAAAGAGGTATTAGCTCACAGTTACTTATTATTTCCTATTTTTGCAGAATTTGCAAAGTCTCAAGACCTGCCTTATCAATCATTGTCCATAGACACTTTTTCTTATTTGAATGATGAGTATGTAGTCATCGCTCAGCCTTTTACTGGAAAATGCATTTTCCTTGAATGGGACCATGTGGAAAAGACCTTCCGGAATTATGACAACATTACAGGTATGAAAAGCCTAATGATATTTTGAGTGGTAATTTAAACTGCTTCAGCCAAGGGCAACAAGGAAAGATGAGTGGTATAGGGGAATGCTTTAGCATTTGAATTCCAACTCTACCATTTGTTAAGTGACCTGGGATTGTTCTCTAAGCCATAATTTCCCCACTTGTAAAACGGGAATAATATTAATACTTAACTCACAAGGTTGTTAATAAGATCATGTGAACACATATTCAAGAAACTTAGCATAGGGTCTAGTATAATACATAAACAGTAAATATTTGATTATTTTTCTTCAAATAAAAGTATTGGATGGTGAATCATGAGTTCTAGTCCAGGTTCTGCCACAGTCTATTTGGGCAAGCTGCTCATACTCACTGACACCCCTCAACCCCTTTTTCTTAACTATAAAATAAGAAGGTTATTTTAGATCAATAAGTCTCAAATTTGTTACACAAACGTGTCTTCTACAAAATGTTAATGTATGCCTTGTAATGAAAAGGATTTTGTGGTCCAATAAATTCATGAACCATATCTTGGTCTTGTAGGTTCATAATACAGACATCTGTGGATCTGAGAAGTCCTGCAGTGAGGAAATTTTTCCAATATTTTTCACCCTTAATTTGGCCATGGAATTTAATTCTTTCTTTTCTTTTCTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCAACTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATATTGGCAAAGCTGGTATTGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTCTCAAAGTGCTGCCATTACAAGCGTGAGCCACCGCACCCGGCCGGAATCTAATTCTTTCTATGAAAACTTTTACTTATCTGGATCTCTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCGTGATCTGGGGTCAATGCAACCTCAGCCTCCTGGGTTCAAGCGATTCTTGTCCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCTAATAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAAGTTGGTCAGGCTGGTTTCGAATTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAAGAGTAAACCACCTTGCCTGGGCTTACTTAGCTGATCTCTTAAGTTTCTTTCCCATTTTAATAATTTTTAAAATTATAAGTCATAAGTTAGAACATAGGGCTCCCTCTACAATTTTTAATATCAGTTTTAGCTTCTAATACCTTTAAATCTGCTCTCAAGAGCACTCACACCTCCCCATAAAAGGTAACCCTTTAGACAAGGCATGGAGGGTCATGATAGATTTTGCTGGTAGCCATCACCCTCATTGCTCAAAGGACCAAGACAGGTCTGGGGCTTGCTTGAGGCTGGGGTTGCTTAAATAAAGGGATCCCTTCCAAACTGAGACCCTTTTGGAATCCTCCTTTCTTTTAGAATCCTCCTCTCTGAAGGAAGAAGGTCATGCTTCCTTAGGCCCCCATAAGTTTTCCAGTGGACTATAGCAGGGTTTTGTGCGGTCGAAACCAGGCTTTTCTTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCT
|
TGAATGATATGGTTTAATTCCAGGAGAATGCCCAAATCAGGATTCTTCCAAGAGAGTCCTGGACAGACCATAGTTATCCTCTCTGGTTTACAGTAGCCTGAAAGGTTGCCACTCATTAGTGTGGGTCAGAGTTCTCTTGGGAGACTAGGTCAGTTCTGGGAGTGTCTTGGAAGTTAGAACACACTCCATGGGTGACGTGGGATGTAGCTCATTGGGGGTCCTTTACCCCATTTTTGTGTCAGTCTATACCCTACACTAGTGAAAGACAAAACAAAAAAATATTGAAATTGGCTCAGTCTCTCATGGGAATCCCAAGATGGGTTTAGCCTTTTGGACCTACTCTAATATGCCCAAATCAAGAATTATCTTAGAAGTACAAGGATCCATGCCAACTTGCCTTTTAGTGGATTTCTTGGCTTTCTTGAAAGTATCCTCTAAAAAACATTTTTAAATGTTTGGGCGTTTAAAAATTATTTATGTGTGGTGTGAAGAGTAGGCAGCACCTATCTTAAGAATTCTGTGTGACCAGGAAAGGAGGTGGAATTCCTGAACAGAAGCAATGCAAATACACAGAGAACTTGGTGAGTTGGGGTCATATGTGGATATGTAAATGGTCTATGCTGTATAACTTATTACAGGCATGAGCGATTGTATGCCTGTGTTAACTCTGCTGTGTCAAAGTCATTTCCTATTTAAACTGAATTTGTAGACCACGGAAGAGGATCAGGATTAATTATGTCTGTGAGGAAGAAGAAAAGCAAATAGCTCACTTGATTAAATACATTACAATAATCACTACATTCTGTCCTTTAGACCTGTGCTGTCCAATAGGGTAGCCACCAGACCTTATGGTCACTGAGCACCTAAAATGTGCTCCTAGTACAACTGAGAGACTGAATTTTAAATTTTACTTAATTTTTTAACAGTTAAATTTAAATTTAAAAGCTGATTCTCAGCTCAATTATTGGAAAATGTTAAGTACGCTTGGAATAATTTGGGTATATACACCTATTTTTTTCAATTATGAATTTTATGACATCTAAATATAGATCACCTATTTCTGGTAAAATTTAGCATCTGAATTGAGATATATTGTAGGTATAAAATACACACTGGACTTCAAAGACTTAGTATAAAAAAGGAATGTAAAATATCTCAATAATGTTTATATTGATGATGTGTCAAAATGATAATCTTTTGTATGTATTGGGTTAAATAAAACATATTATTAAAATGAATTATACCTGCTTCTTTTTACTTTTTTAATGTGGCTATAGAAAATTTTAAATTACAATTACGGTTCATATACTGTTTCTATTGACAGCACAGCCCTAGACTAAGCCGCTTTGGAATTCAAGAGGGAGTAAGTGATGAGGTTCCATTGACTGGGTAGTCTTCAAGTGTGCATGGTGCTAACTCTCTGAGCCCAAAGTGAATGAGTGGTCAGTCAGGTTCCAGGCAGGTTATAGGGCAGGATGCAACGCCGGGTAAGGTCATTCTGCACATGTTAATTGTTGATGTAGAACTCTTTCCTGCGTGGGTAGGGCCCTTGTACAGCAAAAGCAGCTGAAGTTTGTCTTTCAGGGACCTGAGGGGTAATTCATTTAATTGTGACTGTAAACTGAAATGGCTAGTGGAATGGCTTGGCCACACCAATGCAACTGTTGAAGACATCTACTGCGAAGGCCCCCCAGAATACAAGAAGCGCAAAATCAATAGTCTCTCCTCGAAGGATTTTGATTGCATCATTACAGGTAATGTACTCATCATCATTCCACCTCAAAAAATTAAAATAAGGGCTACCTTTTTTTTTCATGTGCAGGAACTGATATTTTTTATATCTTAAAAACTAGCTGAGCAACTTAATTTTAAAAAAATTATGAACCATTGACAATGCTTCATGTGTTTAAAAGTAAAATGGCCATTTTACTATTCTCTGAAATAAATGTATTTCTTGTGAATATTTAAGATCTAGCCAAGGAAAGAGGTATTAGCTCACAGTTACTTATTATTTCCTATTTTTGCAGAATTTGCAAAGTCTCAAGACCCGCCTTATCAATCATTGTCCATAGACACTTTTTCTTATTTGAATGATGAGTATGTAGTCATCGCTCAGCCTTTTACTGGAAAATGCATTTTCCTTGAATGGGACCATGTGGAAAAGACCTTCCGGAATTATGACAACATTACAGGTATGAAAAGCCTAATGATATTTTGAGTGGTAATTTAAACTGCTTCAGCCAAGGGCAACAAGGAAAGATGAGTGGTATAGGGGAATGCTTTAGCATTTGAATTCCAACTCTACCATTTGTTAAGTGACCTGGGATTGTTCTCTAAGCCATAATTTCCCCACTTGTAAAACGGGAATAATATTAATACTTAACTCACAAGGTTGTTAATAAGATCATGTGAACACATATTCAAGAAACTTAGCATAGGGTCTAGTATAATACATAAACAGTAAATATTTGATTATTTTTCTTCAAATAAAAGTATTGGATGGTGAATCATGAGTTCTAGTCCAGGTTCTGCCACAGTCTATTTGGGCAAGCTGCTCATACTCACTGACACCCCTCAACCCCTTTTTCTTAACTATAAAATAAGAAGGTTATTTTAGATCAATAAGTCTCAAATTTGTTACACAAACGTGTCTTCTACAAAATGTTAATGTATGCCTTGTAATGAAAAGGATTTTGTGGTCCAATAAATTCATGAACCATATCTTGGTCTTGTAGGTTCATAATACAGACATCTGTGGATCTGAGAAGTCCTGCAGTGAGGAAATTTTTCCAATATTTTTCACCCTTAATTTGGCCATGGAATTTAATTCTTTCTTTTCTTTTCTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCAACTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCGTGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATATTGGCAAAGCTGGTATTGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTCTCAAAGTGCTGCCATTACAAGCGTGAGCCACCGCACCCGGCCGGAATCTAATTCTTTCTATGAAAACTTTTACTTATCTGGATCTCTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCGTGATCTGGGGTCAATGCAACCTCAGCCTCCTGGGTTCAAGCGATTCTTGTCCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCTAATAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAAGTTGGTCAGGCTGGTTTCGAATTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAAGAGTAAACCACCTTGCCTGGGCTTACTTAGCTGATCTCTTAAGTTTCTTTCCCATTTTAATAATTTTTAAAATTATAAGTCATAAGTTAGAACATAGGGCTCCCTCTACAATTTTTAATATCAGTTTTAGCTTCTAATACCTTTAAATCTGCTCTCAAGAGCACTCACACCTCCCCATAAAAGGTAACCCTTTAGACAAGGCATGGAGGGTCATGATAGATTTTGCTGGTAGCCATCACCCTCATTGCTCAAAGGACCAAGACAGGTCTGGGGCTTGCTTGAGGCTGGGGTTGCTTAAATAAAGGGATCCCTTCCAAACTGAGACCCTTTTGGAATCCTCCTTTCTTTTAGAATCCTCCTCTCTGAAGGAAGAAGGTCATGCTTCCTTAGGCCCCCATAAGTTTTCCAGTGGACTATAGCAGGGTTTTGTGCGGTCGAAACCAGGCTTTTCTTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCT
|
Task1_train_14302
|
This variant lies on Chromosome 10 and affects the gene LGI1 (leucine rich glioma inactivated 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Epilepsy, familial temporal lobe, 1
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CCCCCATAAGTTTTCCAGTGGACTATAGCAGGGTTTTGTGCGGTCGAAACCAGGCTTTTCTTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACATAAATTTTGGAGGGACAGAAACATTCCAACCATAGCAGATGACAAATATATGCCCCATACTCAGTCATTATCCCTTCCTTCACTCTAGACAGGCACCACTAATCTATCATGGGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGCCTAAAGCCCAGATTTGTTCAGCTGTCTCTGGATTTTCTAGAGCCAAACTCCTGCAAGATCAGAATCTACTGATAAATGTCAAACTCTTCCCCAAAGGATACCAAGCTAGGCCACTGACAGATCCCACATCATTTTCTGTGATTTTCCAAAATAACTTTCAGGAGCAGTGCCCATGGCTGCACCCTTCTTTCGATTTTTTTAAAGATTCCTTTTCCTTCTCTTCACTCCTGCCACCAGTGACCTAAAGCTCCAGAAAAGTGACAAGTGGCATCTCCTTTCTTTGCAGGGGAAAGGCAAATTATTCTAGAGCAGGAAGCAGTTCAGACTTAGAGCAAAACAATTACAGTAGAGCCATGGGCTACCCAGACCACAACGCTAGCCTTTGGTTATCTAAGATCTTAGATAAACCAAATTTGAAGTCCTGGAATAGCTAACTTGTCCCCAGCTTGGGTTAAAAGCATAGAGATGCTGGTAGGCCTGGCTTTGAATCCCCAACTCTGCCTTCTGCTACCAGAACAGCCTCTCTGAGCTTCAGTTTACTCATGTGGAAAAAGGATAATATTTATCTCTTAAGATTGTTGGGAAAATTAATGAGGTAAATTGAGAAAGCACATAATAGATGCTCAGTAAACAGTAGTTTTCATTAGAATTATGATTAACTCATTTGTGTCAGGGAAACTAATGCTTTCTTTCTGCAAGAAGTAAGAGGAGAACACTCGGGCCATAGCTGTGTGTCCTGAACGTCTAGCGCAGGCTAGATATGACATTAACAACTCAATTGTTGGCAACAAGGCCCCACGAGGCACAAAGGCACGGAACTTTAGGACACTGCTGCCATTGGGCTTTGGAGACCAGCCTTGCCTAATCAACCAAGGAGATCTCTTGTTTCAGGCTGATTTGGGTGGAAGTTGTATGGCCCCAGCCCGCATGTTTACATGCTCCAAAAGAGGATGGCCACACAACTAATCTCTCCTTTGTCTTTTCCCAGGCACATCCACTGTAGTATGCAAGCCTATAGTCATTGAAACTCAGCTCTATGTTATTGTGGCCCAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATTCATAAAAATCCAGGATATTGAAATTCTCAAAATCCGAAAACCCAATGACATTGAAACATTCAAGATTGAAAACAACTGGTACTTTGTTGTTGCTGACAGTTCAAAAGCTGGTTTTACTACCATTTACAAATGGAACGGAAACGGATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGAATATCTAGAAATAGTCAGAACACCTCAGACACTCAGAACGCCTCATTTAATTCTGTCTAGTAGTTCCCAGCGTCCTGTAATTTATCAGTGGAACAAAGCAACACAATTATTCACTAACCAAACTGACATTCCTAACATGGAGGATGTGTACGCAGTGAAGCACTTCTCAGTGAAAGGGGACGTGTACATTTGCTTGACAAGATTCATTGGTGATTCCAAAGTCATGAAATGGGGAGGCTCCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAATAAATAATTACCAATATGCAATTCTTGGAAGTGATTACTCCTTTACTCAAGTGTATAACTGGGATGCAGAGAAAGCCAAATTTGTGAAATTTCAGGAATTAAATGTTCAGGCACCAAGATCATTCACACATGTGTCCATTAATAAGCGTAATTTTCTTTTTGCTTCCAGTTTTAAGGGAAATACACAGATTTACAAACATGTCATAGTTGACTTAAGCGCATGAGACACCAAATTCTGTGGCTGCCATCAGAAATTTTCTACAGTACATGACCCGGATGAACTCAATGCATGATGACTCTTCTTATCACACTTGCAAATGAATGCCTTTCAAACATTGAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAGTCCAGTGATGTGGGAAGTTACCTTTTATAAGACAAAATTTAATTGTGTAACTGTTCTTTGCAGTGAAGATGTGTAAATAAGCGTTTAATGGTATCTGTTACTCCAAAAAGAAATATTAATATGTACTTTTCCATTTATTTATTCATGTGTACAGAAACAACTGCCAAATAAAATGTTTACATTTTCTTTCATATCCCAGAGGTAATTATTTACAGGAGCTGTTTCATTCTTGTTGTTGGTATGTTGAAGAAATAGTTTTATATAATAGTATTGTATTTGGATCAAGGATTTACGATGTGAAGAATGAGTGAAGATAAAATTATGGGTAATATGATATTGATTACCCATTGATTATGACCAGGTTTATCTGTGGCTGGATCAGCTGATTTTGAACATTCAAAGGTATTTCCAAAGGTCATGGCCTTTAGGGATAATTTGAGGTGAAATGGTGACAAATTAAAAGAAAGGTAGAGAAATTTGCCTACTACAAGAAGACTGATTTGAAATTAAGGACAGCAAGACCCATCCTTTCCTGACTGATAAGCCCAGCTAAAATCATCACTCAGACAATTTCTAGGAGAAAGTAAAATCAAGAATTAGGATCTCAATACCCTATTTAGGGTCTTTCTAAACATCTGACAGCTGATAGAGATTGTAACCTTACAGTGCTTGCCTCAAATGTACCTGTCATGAAGGCCTCTTAATCTGACCAAGGATGCTTCACTTCTAGATACCAATTTTGATTTGTTATTTACCTGCTGCAGAATGCCCAAAAGGCTCATATTTGATTTTCTAAATTTCTGCTTCTAGATCACATGGGTCATTAGCACAATGCCGGTGATAGAGTAGGCTCTCAAAAAATGCTTTTAAAGAAGCACGTGTCCTCCTGTTATAATATAATAAACTTTCTGAGGCCTTTTGACCTAATTATTGCCTACCTACTAAGAATGGGGTATTGTATAGCAGGGGTGGGGGACTGAGGCAGAATAGGGCATGAACCTTGCCCTCTGAGGCCTTAGAAGACTAACTGGGGTGTTAGAACACAAAAATCCTACAGAGCAAGCAGTGAGTGCCAAGTACCTTCTAAAGATTCCAGATTATAAGTATCCTGGGAGTATCAAGATGACTTTCTGGAAGTCTAGGTTCTTGTTTGCACTTAAAGG
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CCCCCATAAGTTTTCCAGTGGACTATAGCAGGGTTTTGTGCGGTCGAAACCAGGCTTTTCTTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACATAAATTTTGGAGGGACAGAAACATTCCAACCATAGCAGATGACAAATATATGCCCCATACTCAGTCATTATCCCTTCCTTCACTCTAGACAGGCACCACTAATCTATCATGGGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGCCTAAAGCCCAGATTTGTTCAGCTGTCTCTGGATTTTCTAGAGCCAAACTCCTGCAAGATCAGAATCTACTGATAAATGTCAAACTCTTCCCCAAAGGATACCAAGCTAGGCCACTGACAGATCCCACATCATTTTCTGTGATTTTCCAAAATAACTTTCAGGAGCAGTGCCCATGGCTGCACCCTTCTTTCGATTTTTTTAAAGATTCCTTTTCCTTCTCTTCACTCCTGCCACCAGTGACCTAAAGCTCCAGAAAAGTGACAAGTGGCATCTCCTTTCTTTGCAGGGGAAAGGCAAATTATTCTAGAGCAGGAAGCAGTTCAGACTTAGAGCAAAACAATTACAGTAGAGCCATGGGCTACCCAGACCACAACGCTAGCCTTTGGTTATCTAAGATCTTAGATAAACCAAATTTGAAGTCCTGGAATAGCTAACTTGTCCCCAGCTTGGGTTAAAAGCATAGAGATGCTGGTAGGCCTGGCTTTGAATCCCCAACTCTGCCTTCTGCTACCAGAACAGCCTCTCTGAGCTTCAGTTTACTCATGTGGAAAAAGGATAATATTTATCTCTTAAGATTGTTGGGAAAATTAATGAGGTAAATTGAGAAAGCACATAATAGATGCTCAGTAAACAGTAGTTTTCATTAGAATTATGATTAACTCATTTGTGTCAGGGAAACTAATGCTTTCTTTCTGCAAGAAGTAAGAGGAGAACACTCGGGCCATAGCTGTGTGTCCTGAACGTCTAGCGCAGGCTAGATATGACATTAACAACTCAATTGTTGGCAACAAGGCCCCACGAGGCACAAAGGCACGGAACTTTAGGACACTGCTGCCATTGGGCTTTGGAGACCAGCCTTGCCTAATCAACCAAGGAGATCTCTTGTTTCAGGCTGATTTGGGTGGAAGTTGTATGGCCCCAGCCCGCATGTTTACATGCTCCAAAAGAGGATGGCCACACAACTAATCTCTCCTTTGTCTTTTCCCAGGCACATCCACTGTAGTATGCAAGCCTATAGTCATTGAAACTCAGCTCTATGTTATTGTGGCCCAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATGCATAAAAATCCAGGATATTGAAATTCTCAAAATCCGAAAACCCAATGACATTGAAACATTCAAGATTGAAAACAACTGGTACTTTGTTGTTGCTGACAGTTCAAAAGCTGGTTTTACTACCATTTACAAATGGAACGGAAACGGATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGAATATCTAGAAATAGTCAGAACACCTCAGACACTCAGAACGCCTCATTTAATTCTGTCTAGTAGTTCCCAGCGTCCTGTAATTTATCAGTGGAACAAAGCAACACAATTATTCACTAACCAAACTGACATTCCTAACATGGAGGATGTGTACGCAGTGAAGCACTTCTCAGTGAAAGGGGACGTGTACATTTGCTTGACAAGATTCATTGGTGATTCCAAAGTCATGAAATGGGGAGGCTCCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAATAAATAATTACCAATATGCAATTCTTGGAAGTGATTACTCCTTTACTCAAGTGTATAACTGGGATGCAGAGAAAGCCAAATTTGTGAAATTTCAGGAATTAAATGTTCAGGCACCAAGATCATTCACACATGTGTCCATTAATAAGCGTAATTTTCTTTTTGCTTCCAGTTTTAAGGGAAATACACAGATTTACAAACATGTCATAGTTGACTTAAGCGCATGAGACACCAAATTCTGTGGCTGCCATCAGAAATTTTCTACAGTACATGACCCGGATGAACTCAATGCATGATGACTCTTCTTATCACACTTGCAAATGAATGCCTTTCAAACATTGAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAGTCCAGTGATGTGGGAAGTTACCTTTTATAAGACAAAATTTAATTGTGTAACTGTTCTTTGCAGTGAAGATGTGTAAATAAGCGTTTAATGGTATCTGTTACTCCAAAAAGAAATATTAATATGTACTTTTCCATTTATTTATTCATGTGTACAGAAACAACTGCCAAATAAAATGTTTACATTTTCTTTCATATCCCAGAGGTAATTATTTACAGGAGCTGTTTCATTCTTGTTGTTGGTATGTTGAAGAAATAGTTTTATATAATAGTATTGTATTTGGATCAAGGATTTACGATGTGAAGAATGAGTGAAGATAAAATTATGGGTAATATGATATTGATTACCCATTGATTATGACCAGGTTTATCTGTGGCTGGATCAGCTGATTTTGAACATTCAAAGGTATTTCCAAAGGTCATGGCCTTTAGGGATAATTTGAGGTGAAATGGTGACAAATTAAAAGAAAGGTAGAGAAATTTGCCTACTACAAGAAGACTGATTTGAAATTAAGGACAGCAAGACCCATCCTTTCCTGACTGATAAGCCCAGCTAAAATCATCACTCAGACAATTTCTAGGAGAAAGTAAAATCAAGAATTAGGATCTCAATACCCTATTTAGGGTCTTTCTAAACATCTGACAGCTGATAGAGATTGTAACCTTACAGTGCTTGCCTCAAATGTACCTGTCATGAAGGCCTCTTAATCTGACCAAGGATGCTTCACTTCTAGATACCAATTTTGATTTGTTATTTACCTGCTGCAGAATGCCCAAAAGGCTCATATTTGATTTTCTAAATTTCTGCTTCTAGATCACATGGGTCATTAGCACAATGCCGGTGATAGAGTAGGCTCTCAAAAAATGCTTTTAAAGAAGCACGTGTCCTCCTGTTATAATATAATAAACTTTCTGAGGCCTTTTGACCTAATTATTGCCTACCTACTAAGAATGGGGTATTGTATAGCAGGGGTGGGGGACTGAGGCAGAATAGGGCATGAACCTTGCCCTCTGAGGCCTTAGAAGACTAACTGGGGTGTTAGAACACAAAAATCCTACAGAGCAAGCAGTGAGTGCCAAGTACCTTCTAAAGATTCCAGATTATAAGTATCCTGGGAGTATCAAGATGACTTTCTGGAAGTCTAGGTTCTTGTTTGCACTTAAAGG
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Task1_train_14303
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A sequence alteration has been identified in LGI1 (leucine rich glioma inactivated 1) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Epilepsy, familial temporal lobe, 1
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TTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACATAAATTTTGGAGGGACAGAAACATTCCAACCATAGCAGATGACAAATATATGCCCCATACTCAGTCATTATCCCTTCCTTCACTCTAGACAGGCACCACTAATCTATCATGGGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGCCTAAAGCCCAGATTTGTTCAGCTGTCTCTGGATTTTCTAGAGCCAAACTCCTGCAAGATCAGAATCTACTGATAAATGTCAAACTCTTCCCCAAAGGATACCAAGCTAGGCCACTGACAGATCCCACATCATTTTCTGTGATTTTCCAAAATAACTTTCAGGAGCAGTGCCCATGGCTGCACCCTTCTTTCGATTTTTTTAAAGATTCCTTTTCCTTCTCTTCACTCCTGCCACCAGTGACCTAAAGCTCCAGAAAAGTGACAAGTGGCATCTCCTTTCTTTGCAGGGGAAAGGCAAATTATTCTAGAGCAGGAAGCAGTTCAGACTTAGAGCAAAACAATTACAGTAGAGCCATGGGCTACCCAGACCACAACGCTAGCCTTTGGTTATCTAAGATCTTAGATAAACCAAATTTGAAGTCCTGGAATAGCTAACTTGTCCCCAGCTTGGGTTAAAAGCATAGAGATGCTGGTAGGCCTGGCTTTGAATCCCCAACTCTGCCTTCTGCTACCAGAACAGCCTCTCTGAGCTTCAGTTTACTCATGTGGAAAAAGGATAATATTTATCTCTTAAGATTGTTGGGAAAATTAATGAGGTAAATTGAGAAAGCACATAATAGATGCTCAGTAAACAGTAGTTTTCATTAGAATTATGATTAACTCATTTGTGTCAGGGAAACTAATGCTTTCTTTCTGCAAGAAGTAAGAGGAGAACACTCGGGCCATAGCTGTGTGTCCTGAACGTCTAGCGCAGGCTAGATATGACATTAACAACTCAATTGTTGGCAACAAGGCCCCACGAGGCACAAAGGCACGGAACTTTAGGACACTGCTGCCATTGGGCTTTGGAGACCAGCCTTGCCTAATCAACCAAGGAGATCTCTTGTTTCAGGCTGATTTGGGTGGAAGTTGTATGGCCCCAGCCCGCATGTTTACATGCTCCAAAAGAGGATGGCCACACAACTAATCTCTCCTTTGTCTTTTCCCAGGCACATCCACTGTAGTATGCAAGCCTATAGTCATTGAAACTCAGCTCTATGTTATTGTGGCCCAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATTCATAAAAATCCAGGATATTGAAATTCTCAAAATCCGAAAACCCAATGACATTGAAACATTCAAGATTGAAAACAACTGGTACTTTGTTGTTGCTGACAGTTCAAAAGCTGGTTTTACTACCATTTACAAATGGAACGGAAACGGATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGAATATCTAGAAATAGTCAGAACACCTCAGACACTCAGAACGCCTCATTTAATTCTGTCTAGTAGTTCCCAGCGTCCTGTAATTTATCAGTGGAACAAAGCAACACAATTATTCACTAACCAAACTGACATTCCTAACATGGAGGATGTGTACGCAGTGAAGCACTTCTCAGTGAAAGGGGACGTGTACATTTGCTTGACAAGATTCATTGGTGATTCCAAAGTCATGAAATGGGGAGGCTCCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAATAAATAATTACCAATATGCAATTCTTGGAAGTGATTACTCCTTTACTCAAGTGTATAACTGGGATGCAGAGAAAGCCAAATTTGTGAAATTTCAGGAATTAAATGTTCAGGCACCAAGATCATTCACACATGTGTCCATTAATAAGCGTAATTTTCTTTTTGCTTCCAGTTTTAAGGGAAATACACAGATTTACAAACATGTCATAGTTGACTTAAGCGCATGAGACACCAAATTCTGTGGCTGCCATCAGAAATTTTCTACAGTACATGACCCGGATGAACTCAATGCATGATGACTCTTCTTATCACACTTGCAAATGAATGCCTTTCAAACATTGAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAGTCCAGTGATGTGGGAAGTTACCTTTTATAAGACAAAATTTAATTGTGTAACTGTTCTTTGCAGTGAAGATGTGTAAATAAGCGTTTAATGGTATCTGTTACTCCAAAAAGAAATATTAATATGTACTTTTCCATTTATTTATTCATGTGTACAGAAACAACTGCCAAATAAAATGTTTACATTTTCTTTCATATCCCAGAGGTAATTATTTACAGGAGCTGTTTCATTCTTGTTGTTGGTATGTTGAAGAAATAGTTTTATATAATAGTATTGTATTTGGATCAAGGATTTACGATGTGAAGAATGAGTGAAGATAAAATTATGGGTAATATGATATTGATTACCCATTGATTATGACCAGGTTTATCTGTGGCTGGATCAGCTGATTTTGAACATTCAAAGGTATTTCCAAAGGTCATGGCCTTTAGGGATAATTTGAGGTGAAATGGTGACAAATTAAAAGAAAGGTAGAGAAATTTGCCTACTACAAGAAGACTGATTTGAAATTAAGGACAGCAAGACCCATCCTTTCCTGACTGATAAGCCCAGCTAAAATCATCACTCAGACAATTTCTAGGAGAAAGTAAAATCAAGAATTAGGATCTCAATACCCTATTTAGGGTCTTTCTAAACATCTGACAGCTGATAGAGATTGTAACCTTACAGTGCTTGCCTCAAATGTACCTGTCATGAAGGCCTCTTAATCTGACCAAGGATGCTTCACTTCTAGATACCAATTTTGATTTGTTATTTACCTGCTGCAGAATGCCCAAAAGGCTCATATTTGATTTTCTAAATTTCTGCTTCTAGATCACATGGGTCATTAGCACAATGCCGGTGATAGAGTAGGCTCTCAAAAAATGCTTTTAAAGAAGCACGTGTCCTCCTGTTATAATATAATAAACTTTCTGAGGCCTTTTGACCTAATTATTGCCTACCTACTAAGAATGGGGTATTGTATAGCAGGGGTGGGGGACTGAGGCAGAATAGGGCATGAACCTTGCCCTCTGAGGCCTTAGAAGACTAACTGGGGTGTTAGAACACAAAAATCCTACAGAGCAAGCAGTGAGTGCCAAGTACCTTCTAAAGATTCCAGATTATAAGTATCCTGGGAGTATCAAGATGACTTTCTGGAAGTCTAGGTTCTTGTTTGCACTTAAAGGGAAGATGTAATTTTAAAGGGGGATCACGGCAGAGAAGATATTCCTGGCACGAACTGGTTC
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TTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACATAAATTTTGGAGGGACAGAAACATTCCAACCATAGCAGATGACAAATATATGCCCCATACTCAGTCATTATCCCTTCCTTCACTCTAGACAGGCACCACTAATCTATCATGGGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGCCTAAAGCCCAGATTTGTTCAGCTGTCTCTGGATTTTCTAGAGCCAAACTCCTGCAAGATCAGAATCTACTGATAAATGTCAAACTCTTCCCCAAAGGATACCAAGCTAGGCCACTGACAGATCCCACATCATTTTCTGTGATTTTCCAAAATAACTTTCAGGAGCAGTGCCCATGGCTGCACCCTTCTTTCGATTTTTTTAAAGATTCCTTTTCCTTCTCTTCACTCCTGCCACCAGTGACCTAAAGCTCCAGAAAAGTGACAAGTGGCATCTCCTTTCTTTGCAGGGGAAAGGCAAATTATTCTAGAGCAGGAAGCAGTTCAGACTTAGAGCAAAACAATTACAGTAGAGCCATGGGCTACCCAGACCACAACGCTAGCCTTTGGTTATCTAAGATCTTAGATAAACCAAATTTGAAGTCCTGGAATAGCTAACTTGTCCCCAGCTTGGGTTAAAAGCATAGAGATGCTGGTAGGCCTGGCTTTGAATCCCCAACTCTGCCTTCTGCTACCAGAACAGCCTCTCTGAGCTTCAGTTTACTCATGTGGAAAAAGGATAATATTTATCTCTTAAGATTGTTGGGAAAATTAATGAGGTAAATTGAGAAAGCACATAATAGATGCTCAGTAAACAGTAGTTTTCATTAGAATTATGATTAACTCATTTGTGTCAGGGAAACTAATGCTTTCTTTCTGCAAGAAGTAAGAGGAGAACACTCGGGCCATAGCTGTGTGTCCTGAACGTCTAGCGCAGGCTAGATATGACATTAACAACTCAATTGTTGGCAACAAGGCCCCACGAGGCACAAAGGCACGGAACTTTAGGACACTGCTGCCATTGGGCTTTGGAGACCAGCCTTGCCTAATCAACCAAGGAGATCTCTTGTTTCAGGCTGATTTGGGTGGAAGTTGTATGGCCCCAGCCCGCATGTTTACATGCTCCAAAAGAGGATGGCCACACAACTAATCTCTCCTTTGTCTTTTCCCAGGCACATCCACTGTAGTATGCAAGCCTATAGTCATTGAAACTCAGCTCTATGTTATTGTGGCCCAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATTCATAAAAATCCAGGATATTGAAATTCTCAAAATCCGAAAACCCAATGACATTGAAACATCCAAGATTGAAAACAACTGGTACTTTGTTGTTGCTGACAGTTCAAAAGCTGGTTTTACTACCATTTACAAATGGAACGGAAACGGATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGAATATCTAGAAATAGTCAGAACACCTCAGACACTCAGAACGCCTCATTTAATTCTGTCTAGTAGTTCCCAGCGTCCTGTAATTTATCAGTGGAACAAAGCAACACAATTATTCACTAACCAAACTGACATTCCTAACATGGAGGATGTGTACGCAGTGAAGCACTTCTCAGTGAAAGGGGACGTGTACATTTGCTTGACAAGATTCATTGGTGATTCCAAAGTCATGAAATGGGGAGGCTCCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAATAAATAATTACCAATATGCAATTCTTGGAAGTGATTACTCCTTTACTCAAGTGTATAACTGGGATGCAGAGAAAGCCAAATTTGTGAAATTTCAGGAATTAAATGTTCAGGCACCAAGATCATTCACACATGTGTCCATTAATAAGCGTAATTTTCTTTTTGCTTCCAGTTTTAAGGGAAATACACAGATTTACAAACATGTCATAGTTGACTTAAGCGCATGAGACACCAAATTCTGTGGCTGCCATCAGAAATTTTCTACAGTACATGACCCGGATGAACTCAATGCATGATGACTCTTCTTATCACACTTGCAAATGAATGCCTTTCAAACATTGAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAGTCCAGTGATGTGGGAAGTTACCTTTTATAAGACAAAATTTAATTGTGTAACTGTTCTTTGCAGTGAAGATGTGTAAATAAGCGTTTAATGGTATCTGTTACTCCAAAAAGAAATATTAATATGTACTTTTCCATTTATTTATTCATGTGTACAGAAACAACTGCCAAATAAAATGTTTACATTTTCTTTCATATCCCAGAGGTAATTATTTACAGGAGCTGTTTCATTCTTGTTGTTGGTATGTTGAAGAAATAGTTTTATATAATAGTATTGTATTTGGATCAAGGATTTACGATGTGAAGAATGAGTGAAGATAAAATTATGGGTAATATGATATTGATTACCCATTGATTATGACCAGGTTTATCTGTGGCTGGATCAGCTGATTTTGAACATTCAAAGGTATTTCCAAAGGTCATGGCCTTTAGGGATAATTTGAGGTGAAATGGTGACAAATTAAAAGAAAGGTAGAGAAATTTGCCTACTACAAGAAGACTGATTTGAAATTAAGGACAGCAAGACCCATCCTTTCCTGACTGATAAGCCCAGCTAAAATCATCACTCAGACAATTTCTAGGAGAAAGTAAAATCAAGAATTAGGATCTCAATACCCTATTTAGGGTCTTTCTAAACATCTGACAGCTGATAGAGATTGTAACCTTACAGTGCTTGCCTCAAATGTACCTGTCATGAAGGCCTCTTAATCTGACCAAGGATGCTTCACTTCTAGATACCAATTTTGATTTGTTATTTACCTGCTGCAGAATGCCCAAAAGGCTCATATTTGATTTTCTAAATTTCTGCTTCTAGATCACATGGGTCATTAGCACAATGCCGGTGATAGAGTAGGCTCTCAAAAAATGCTTTTAAAGAAGCACGTGTCCTCCTGTTATAATATAATAAACTTTCTGAGGCCTTTTGACCTAATTATTGCCTACCTACTAAGAATGGGGTATTGTATAGCAGGGGTGGGGGACTGAGGCAGAATAGGGCATGAACCTTGCCCTCTGAGGCCTTAGAAGACTAACTGGGGTGTTAGAACACAAAAATCCTACAGAGCAAGCAGTGAGTGCCAAGTACCTTCTAAAGATTCCAGATTATAAGTATCCTGGGAGTATCAAGATGACTTTCTGGAAGTCTAGGTTCTTGTTTGCACTTAAAGGGAAGATGTAATTTTAAAGGGGGATCACGGCAGAGAAGATATTCCTGGCACGAACTGGTTC
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Task1_train_14304
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Located on Chromosome 10, this mutation impacts LGI1 (leucine rich glioma inactivated 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Epilepsy, familial temporal lobe, 1
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TCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACATAAATTTTGGAGGGACAGAAACATTCCAACCATAGCAGATGACAAATATATGCCCCATACTCAGTCATTATCCCTTCCTTCACTCTAGACAGGCACCACTAATCTATCATGGGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGCCTAAAGCCCAGATTTGTTCAGCTGTCTCTGGATTTTCTAGAGCCAAACTCCTGCAAGATCAGAATCTACTGATAAATGTCAAACTCTTCCCCAAAGGATACCAAGCTAGGCCACTGACAGATCCCACATCATTTTCTGTGATTTTCCAAAATAACTTTCAGGAGCAGTGCCCATGGCTGCACCCTTCTTTCGATTTTTTTAAAGATTCCTTTTCCTTCTCTTCACTCCTGCCACCAGTGACCTAAAGCTCCAGAAAAGTGACAAGTGGCATCTCCTTTCTTTGCAGGGGAAAGGCAAATTATTCTAGAGCAGGAAGCAGTTCAGACTTAGAGCAAAACAATTACAGTAGAGCCATGGGCTACCCAGACCACAACGCTAGCCTTTGGTTATCTAAGATCTTAGATAAACCAAATTTGAAGTCCTGGAATAGCTAACTTGTCCCCAGCTTGGGTTAAAAGCATAGAGATGCTGGTAGGCCTGGCTTTGAATCCCCAACTCTGCCTTCTGCTACCAGAACAGCCTCTCTGAGCTTCAGTTTACTCATGTGGAAAAAGGATAATATTTATCTCTTAAGATTGTTGGGAAAATTAATGAGGTAAATTGAGAAAGCACATAATAGATGCTCAGTAAACAGTAGTTTTCATTAGAATTATGATTAACTCATTTGTGTCAGGGAAACTAATGCTTTCTTTCTGCAAGAAGTAAGAGGAGAACACTCGGGCCATAGCTGTGTGTCCTGAACGTCTAGCGCAGGCTAGATATGACATTAACAACTCAATTGTTGGCAACAAGGCCCCACGAGGCACAAAGGCACGGAACTTTAGGACACTGCTGCCATTGGGCTTTGGAGACCAGCCTTGCCTAATCAACCAAGGAGATCTCTTGTTTCAGGCTGATTTGGGTGGAAGTTGTATGGCCCCAGCCCGCATGTTTACATGCTCCAAAAGAGGATGGCCACACAACTAATCTCTCCTTTGTCTTTTCCCAGGCACATCCACTGTAGTATGCAAGCCTATAGTCATTGAAACTCAGCTCTATGTTATTGTGGCCCAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATTCATAAAAATCCAGGATATTGAAATTCTCAAAATCCGAAAACCCAATGACATTGAAACATTCAAGATTGAAAACAACTGGTACTTTGTTGTTGCTGACAGTTCAAAAGCTGGTTTTACTACCATTTACAAATGGAACGGAAACGGATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGAATATCTAGAAATAGTCAGAACACCTCAGACACTCAGAACGCCTCATTTAATTCTGTCTAGTAGTTCCCAGCGTCCTGTAATTTATCAGTGGAACAAAGCAACACAATTATTCACTAACCAAACTGACATTCCTAACATGGAGGATGTGTACGCAGTGAAGCACTTCTCAGTGAAAGGGGACGTGTACATTTGCTTGACAAGATTCATTGGTGATTCCAAAGTCATGAAATGGGGAGGCTCCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAATAAATAATTACCAATATGCAATTCTTGGAAGTGATTACTCCTTTACTCAAGTGTATAACTGGGATGCAGAGAAAGCCAAATTTGTGAAATTTCAGGAATTAAATGTTCAGGCACCAAGATCATTCACACATGTGTCCATTAATAAGCGTAATTTTCTTTTTGCTTCCAGTTTTAAGGGAAATACACAGATTTACAAACATGTCATAGTTGACTTAAGCGCATGAGACACCAAATTCTGTGGCTGCCATCAGAAATTTTCTACAGTACATGACCCGGATGAACTCAATGCATGATGACTCTTCTTATCACACTTGCAAATGAATGCCTTTCAAACATTGAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAGTCCAGTGATGTGGGAAGTTACCTTTTATAAGACAAAATTTAATTGTGTAACTGTTCTTTGCAGTGAAGATGTGTAAATAAGCGTTTAATGGTATCTGTTACTCCAAAAAGAAATATTAATATGTACTTTTCCATTTATTTATTCATGTGTACAGAAACAACTGCCAAATAAAATGTTTACATTTTCTTTCATATCCCAGAGGTAATTATTTACAGGAGCTGTTTCATTCTTGTTGTTGGTATGTTGAAGAAATAGTTTTATATAATAGTATTGTATTTGGATCAAGGATTTACGATGTGAAGAATGAGTGAAGATAAAATTATGGGTAATATGATATTGATTACCCATTGATTATGACCAGGTTTATCTGTGGCTGGATCAGCTGATTTTGAACATTCAAAGGTATTTCCAAAGGTCATGGCCTTTAGGGATAATTTGAGGTGAAATGGTGACAAATTAAAAGAAAGGTAGAGAAATTTGCCTACTACAAGAAGACTGATTTGAAATTAAGGACAGCAAGACCCATCCTTTCCTGACTGATAAGCCCAGCTAAAATCATCACTCAGACAATTTCTAGGAGAAAGTAAAATCAAGAATTAGGATCTCAATACCCTATTTAGGGTCTTTCTAAACATCTGACAGCTGATAGAGATTGTAACCTTACAGTGCTTGCCTCAAATGTACCTGTCATGAAGGCCTCTTAATCTGACCAAGGATGCTTCACTTCTAGATACCAATTTTGATTTGTTATTTACCTGCTGCAGAATGCCCAAAAGGCTCATATTTGATTTTCTAAATTTCTGCTTCTAGATCACATGGGTCATTAGCACAATGCCGGTGATAGAGTAGGCTCTCAAAAAATGCTTTTAAAGAAGCACGTGTCCTCCTGTTATAATATAATAAACTTTCTGAGGCCTTTTGACCTAATTATTGCCTACCTACTAAGAATGGGGTATTGTATAGCAGGGGTGGGGGACTGAGGCAGAATAGGGCATGAACCTTGCCCTCTGAGGCCTTAGAAGACTAACTGGGGTGTTAGAACACAAAAATCCTACAGAGCAAGCAGTGAGTGCCAAGTACCTTCTAAAGATTCCAGATTATAAGTATCCTGGGAGTATCAAGATGACTTTCTGGAAGTCTAGGTTCTTGTTTGCACTTAAAGGGAAGATGTAATTTTAAAGGGGGATCACGGCAGAGAAGATATTCCTGGCACGAACTGGTTCTGTGTGCTGCCTTCACGGAGGGGGTCAGAGCTTGCTCCTGCTCATTGTTTGCTGGACTATTTTGCCATATAAGTGTGGTCGGGGAGGGCAGACAGCAGCTGCTGGCACACAGTGCATATCTGGAAGACTTGAGGC
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TCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACATAAATTTTGGAGGGACAGAAACATTCCAACCATAGCAGATGACAAATATATGCCCCATACTCAGTCATTATCCCTTCCTTCACTCTAGACAGGCACCACTAATCTATCATGGGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGCCTAAAGCCCAGATTTGTTCAGCTGTCTCTGGATTTTCTAGAGCCAAACTCCTGCAAGATCAGAATCTACTGATAAATGTCAAACTCTTCCCCAAAGGATACCAAGCTAGGCCACTGACAGATCCCACATCATTTTCTGTGATTTTCCAAAATAACTTTCAGGAGCAGTGCCCATGGCTGCACCCTTCTTTCGATTTTTTTAAAGATTCCTTTTCCTTCTCTTCACTCCTGCCACCAGTGACCTAAAGCTCCAGAAAAGTGACAAGTGGCATCTCCTTTCTTTGCAGGGGAAAGGCAAATTATTCTAGAGCAGGAAGCAGTTCAGACTTAGAGCAAAACAATTACAGTAGAGCCATGGGCTACCCAGACCACAACGCTAGCCTTTGGTTATCTAAGATCTTAGATAAACCAAATTTGAAGTCCTGGAATAGCTAACTTGTCCCCAGCTTGGGTTAAAAGCATAGAGATGCTGGTAGGCCTGGCTTTGAATCCCCAACTCTGCCTTCTGCTACCAGAACAGCCTCTCTGAGCTTCAGTTTACTCATGTGGAAAAAGGATAATATTTATCTCTTAAGATTGTTGGGAAAATTAATGAGGTAAATTGAGAAAGCACATAATAGATGCTCAGTAAACAGTAGTTTTCATTAGAATTATGATTAACTCATTTGTGTCAGGGAAACTAATGCTTTCTTTCTGCAAGAAGTAAGAGGAGAACACTCGGGCCATAGCTGTGTGTCCTGAACGTCTAGCGCAGGCTAGATATGACATTAACAACTCAATTGTTGGCAACAAGGCCCCACGAGGCACAAAGGCACGGAACTTTAGGACACTGCTGCCATTGGGCTTTGGAGACCAGCCTTGCCTAATCAACCAAGGAGATCTCTTGTTTCAGGCTGATTTGGGTGGAAGTTGTATGGCCCCAGCCCGCATGTTTACATGCTCCAAAAGAGGATGGCCACACAACTAATCTCTCCTTTGTCTTTTCCCAGGCACATCCACTGTAGTATGCAAGCCTATAGTCATTGAAACTCAGCTCTATGTTATTGTGGCCCAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATTCATAAAAATCCAGGATATTGAAATTCTCAAAATCCGAAAACCCAATGACATTGAAACATTCAAGATTGAAAACAACTGGTACTTTGTTGTTGCTGACAGTTCAAAAGCTGGTTTTACTACCATTTACAAATGGAACGGAAACGGATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGCATATCTAGAAATAGTCAGAACACCTCAGACACTCAGAACGCCTCATTTAATTCTGTCTAGTAGTTCCCAGCGTCCTGTAATTTATCAGTGGAACAAAGCAACACAATTATTCACTAACCAAACTGACATTCCTAACATGGAGGATGTGTACGCAGTGAAGCACTTCTCAGTGAAAGGGGACGTGTACATTTGCTTGACAAGATTCATTGGTGATTCCAAAGTCATGAAATGGGGAGGCTCCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAATAAATAATTACCAATATGCAATTCTTGGAAGTGATTACTCCTTTACTCAAGTGTATAACTGGGATGCAGAGAAAGCCAAATTTGTGAAATTTCAGGAATTAAATGTTCAGGCACCAAGATCATTCACACATGTGTCCATTAATAAGCGTAATTTTCTTTTTGCTTCCAGTTTTAAGGGAAATACACAGATTTACAAACATGTCATAGTTGACTTAAGCGCATGAGACACCAAATTCTGTGGCTGCCATCAGAAATTTTCTACAGTACATGACCCGGATGAACTCAATGCATGATGACTCTTCTTATCACACTTGCAAATGAATGCCTTTCAAACATTGAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAGTCCAGTGATGTGGGAAGTTACCTTTTATAAGACAAAATTTAATTGTGTAACTGTTCTTTGCAGTGAAGATGTGTAAATAAGCGTTTAATGGTATCTGTTACTCCAAAAAGAAATATTAATATGTACTTTTCCATTTATTTATTCATGTGTACAGAAACAACTGCCAAATAAAATGTTTACATTTTCTTTCATATCCCAGAGGTAATTATTTACAGGAGCTGTTTCATTCTTGTTGTTGGTATGTTGAAGAAATAGTTTTATATAATAGTATTGTATTTGGATCAAGGATTTACGATGTGAAGAATGAGTGAAGATAAAATTATGGGTAATATGATATTGATTACCCATTGATTATGACCAGGTTTATCTGTGGCTGGATCAGCTGATTTTGAACATTCAAAGGTATTTCCAAAGGTCATGGCCTTTAGGGATAATTTGAGGTGAAATGGTGACAAATTAAAAGAAAGGTAGAGAAATTTGCCTACTACAAGAAGACTGATTTGAAATTAAGGACAGCAAGACCCATCCTTTCCTGACTGATAAGCCCAGCTAAAATCATCACTCAGACAATTTCTAGGAGAAAGTAAAATCAAGAATTAGGATCTCAATACCCTATTTAGGGTCTTTCTAAACATCTGACAGCTGATAGAGATTGTAACCTTACAGTGCTTGCCTCAAATGTACCTGTCATGAAGGCCTCTTAATCTGACCAAGGATGCTTCACTTCTAGATACCAATTTTGATTTGTTATTTACCTGCTGCAGAATGCCCAAAAGGCTCATATTTGATTTTCTAAATTTCTGCTTCTAGATCACATGGGTCATTAGCACAATGCCGGTGATAGAGTAGGCTCTCAAAAAATGCTTTTAAAGAAGCACGTGTCCTCCTGTTATAATATAATAAACTTTCTGAGGCCTTTTGACCTAATTATTGCCTACCTACTAAGAATGGGGTATTGTATAGCAGGGGTGGGGGACTGAGGCAGAATAGGGCATGAACCTTGCCCTCTGAGGCCTTAGAAGACTAACTGGGGTGTTAGAACACAAAAATCCTACAGAGCAAGCAGTGAGTGCCAAGTACCTTCTAAAGATTCCAGATTATAAGTATCCTGGGAGTATCAAGATGACTTTCTGGAAGTCTAGGTTCTTGTTTGCACTTAAAGGGAAGATGTAATTTTAAAGGGGGATCACGGCAGAGAAGATATTCCTGGCACGAACTGGTTCTGTGTGCTGCCTTCACGGAGGGGGTCAGAGCTTGCTCCTGCTCATTGTTTGCTGGACTATTTTGCCATATAAGTGTGGTCGGGGAGGGCAGACAGCAGCTGCTGGCACACAGTGCATATCTGGAAGACTTGAGGC
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Task1_train_14305
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This is a variant in PLCE1 (phospholipase C epsilon 1), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Nephrotic syndrome, type 3
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TAAATGTTTAGCCAGTTCATTAAGGACTCAGTGGCCTTATTTTCTCTGGGCTGTGGCATCAGCATTTTCACCTCCATTGATGTCTACCCAGATAGAGAGCACTTGCCTGGCTCTCTAATTTGAAGACGTGCCCTTTCAAGGGGCCAAAGTTGCTAGGAAAATGGCCATATGGTTTTGCTATCAAATTTTACTTTCCTTTAATATCCAGCTCTGGTAAACACTCTTTCTACCTTAATCTGTTCCCTTCCTTCCCCACTCTGGATTAATTGTGGCCTTTGGCAAAAATGCCATGTTTGTTTTAGACCATTTGCCCTTCTGCTTTAGTCCTGAGTGTAAACACTGCCTGATATGTAGAACTACATGCTGGGTTTAGTTCGAGGCTTTATCTCCAGGTGCTCACCTGGGGTGGATTCGCTCATTGATCACACAGGTCCTTTTGCAAGGCTGTCGAAGTGTAGAATTGGACTGCTGGGACGGAGACGATGGGATGCCCATCATTTATCATGGACATACGCTGACAACCAAGATCCCCTTCAAGGTAATCCTTCATAACTTTCTTTAAATCAAATCACAAAGAGACATTATCTTCATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGTTCTCGCTCTGTTATCCAGGCTGGAGTAGAGTGGTACCATCTTGGCTCACTGCAACCTCTGCCTCCGAGGTTCAAGAGATTCTCCTACATCAGCCTCCCAAGTAGCTAGGATTACAAGCCCATACCATCAAGCCCAGCCAATTTTTGTATTTCCAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGCTCCGCCCGCCCCTCAGCCTCCCAAAGTACCGGGATTACAGACGTGAGCCACCGTGCCTGGCCTTCATTCTTTATTTAAATCAGTGACTTGACCAAATTACACCTTAGATCAAGGGTCTTTATGCTGGGTCTAAATGAAGACTTCCCAAAAGTGTTTGCTGTATCATGTGGAATGTGCACATGTTCATTTTTCTGGAGTTAATCTAGAACTCTCATTAGATTCCCCATTCAACCCAAGTTAGTAACCATTACCTTACATTAGTTAGCATGTAATAATATTGTTGCAATTTTTACGTAATATGATATATAAAGGCAAGGTCTATTTTCCTGCTATAGGAATTAATGGTCATTTGTCCTAGTGTCATGCTGACAAAGGCCAATGTCAGGAGTTAGGAGATGGTTAAATAGTTAGCATTATAATGTAATGAGCATCAGTTCCACCTAAGAAGATTGGTCACCCAGGAAGACTGATCTCACTGGATTTGTGTTTCAAATTCTGGGTAGCTTATTAGTTGAGTTATGCAATTACTACCTTCATTCAGAGGGTCTTAGGCTATATAACATAATTTTTCTCTGAACTGTGGCCAGGTTGTGAAGGAATATTATTTTTATTTTACATGTAGAAATAGTGGCTAAAATGCATTTTCTCCTCAACTTGGTTTCCTATTTAGCATTCCTAAAACTCCTGTATGCTATATTGGCATGGGCATGAGTTGATAACTGTGTTTACATATACACATAAATATATGTGACATATGTCTTATTGCCTCAAATAAATTATAAACTCTTTATAAGCAAGAAAGTATTTTATGCTTAATTATGTTTGCTGCTATAACTAGGACAGTGTCTTTTACCTGCAATATACTCTATATATGTATACAGAGAGAGTATATGTATATAAATAGATTTGTTAAATTCAATATGATAGTTGTTCCTTATAGTATGTGAACAATACTCACTATAAAGTTTAATGTCTTTCTACAAAATGGCCTTATCCTCATGCTTCATTTGAAAATACGAAAACCATCTTTGGCCAGAGTCTGCTGCATGTAACAATTGAGATGCTTTCTGTGGCTATAACTACCCTGCCTTCTGACCACCTTGACAGATATCTGGACTCTAATGAGCTGTTTTGGCTCTCATAGGAAGTGGTTGAAGCCATTGATCGCAGTGCCTTCATCAACTCTGACCTGCCAATCATCATATCGATTGAGAACCACTGTTCATTGCCTCAGCAACGAAAAATGGCAGAAATTTTCAAGGTGAGCTCTCAACAAAAAGGCAGGATGGTATGTTGGCCCTTGTTTTGCAATTGTCATTGGGTTGTTTTGTTTTGTTTTGTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTGCCTCTGAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCAGCATGCGCCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCGCCATGATGGCCAGGCTGCTCTGGAACTCCTGGCTTCAAGTGATCCACCCATCTCGGCCTCCCAAAGTACTGGGATTATAGGCGTGAGACACTGCACCCAGCCGTCATTAGGTTTAAATGAGGCCTTTGTGGACTATGCTGCAATTAGACCTTGGCTGTGAAGCATATACAGTTAGGGTCCCACAAACCTGAGAAATTGGGCTGTTCTTAGAGCCTGGGCCCTCTCTGGGATGGTCCCTATTTTCAGCTGGAGTGATATAAGTATTGCTCTCTGGTCTCCTTACCCTTTCCAGAAAGCCTTAGGAGATTAGGATAGACCAACTCTCCAACACTTCTGGTACCACAAGTCAGGGATGCCAGGATGTCATCTGTCAGTTGTATGTGGAAAAGCTGAAAATATCTCAGGGCAAGTAAGTCAAATCTTATAGGAGAAGATCATCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGTCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGAACTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAGAGTGCTGGGATTACATACGTGAGGCACCGCACCCAGCCAAGAAGATCTTCTTATACCACAGTACAAAGATCCAAGTTAGCAAAGAGCTTAGACTGGCCAGAACAGTTGCTGTGTTAACAGTCAGTCCTTCCTTATATAAGGGTATGATAATGTATCAGGGGAACCTGCCCCCAATGTTTCAACGTAGGTTCTTTCTATTTTCCCTAAGTGTCAGCCAGTCTGAGATATAAAGAGAAAGAATACAAAGAGAGGAATTTTACAGCTGGGCTGCTGGGGGCGACATCACATATTGATAGGTCCATGATGCCCACCTGAGCCGCAAACCCAGCAAGTTTTATTAAGGATTTCAAAAGGGGTTTACAAACAGGGAGTAGGTCACATGCTTCAAGGGACAAAAGGCAGAGCAAGGATCACATGCTTCTGAGGAAACAGGACCAGGGCAAAATCAGAAACTCCTGATAAGGGTCTACGTTCAGCGGTGTACGTATTGTCTTGATAAACATATTAACAGAAAACAGGGTTCAAGAGCAGAGAACCGGTCTGACCTCAAATTTACCAGGGCTGGGGTTTCCCAATCCTAGTAAGCCTGAAGGTACTGCAGGAGACCAGGGCATGTCTCAGTCCTTATCTCAACTGCATAGGACAGACATTCCCAGAGCAGCTGTTTATAGACCTCCCCCCAGGAATGCAATTCTTTTCCTAGGGTCTTAATATTATATTCCTTGCTAGGAAAAGAATTTAGCAATATCTCTCCTACTTGCACGTCTGTTTATAGGCTCTCTGCAACAAGAAAAATATGGCTCTTTTTGCCTGACCCTGCAGGCGGTCACACCTTATGGTTGTCTTCCCTTGTTCCCTAAAATCGCTGTTATTCTGTTCATTTTCAAGGTGCACTGATTTCATATTGTCCAAACACACATGTTTTACAATCAATTTGTACAATAGTGGTCCTGAGGTGACGTACATTTTCAGCTTACAAAGATAACAGGATTAAGAGATTGAAGTAAAGACAGGCATAA
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TAAATGTTTAGCCAGTTCATTAAGGACTCAGTGGCCTTATTTTCTCTGGGCTGTGGCATCAGCATTTTCACCTCCATTGATGTCTACCCAGATAGAGAGCACTTGCCTGGCTCTCTAATTTGAAGACGTGCCCTTTCAAGGGGCCAAAGTTGCTAGGAAAATGGCCATATGGTTTTGCTATCAAATTTTACTTTCCTTTAATATCCAGCTCTGGTAAACACTCTTTCTACCTTAATCTGTTCCCTTCCTTCCCCACTCTGGATTAATTGTGGCCTTTGGCAAAAATGCCATGTTTGTTTTAGACCATTTGCCCTTCTGCTTTAGTCCTGAGTGTAAACACTGCCTGATATGTAGAACTACATGCTGGGTTTAGTTCGAGGCTTTATCTCCAGGTGCTCACCTGGGGTGGATTCGCTCATTGATCACACAGGTCCTTTTGCAAGGCTGTCGAAGTGTAGAATTGGACTGCTGGGACGGAGACGATGGGATGCCCATCATTTATCATGGACATACGCTGACAACCAAGATCCCCTTCAAGGTAATCCTTCATAACTTTCTTTAAATCAAATCACAAAGAGACATTATCTTCATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGTTCTCGCTCTGTTATCCAGGCTGGAGTAGAGTGGTACCATCTTGGCTCACTGCAACCTCTGCCTCCGAGGTTCAAGAGATTCTCCTACATCAGCCTCCCAAGTAGCTAGGATTACAAGCCCATACCATCAAGCCCAGCCAATTTTTGTATTTCCAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGCTCCGCCCGCCCCTCAGCCTCCCAAAGTACCGGGATTACAGACGTGAGCCACCGTGCCTGGCCTTCATTCTTTATTTAAATCAGTGACTTGACCAAATTACACCTTAGATCAAGGGTCTTTATGCTGGGTCTAAATGAAGACTTCCCAAAAGTGTTTGCTGTATCATGTGGAATGTGCACATGTTCATTTTTCTGGAGTTAATCTAGAACTCTCATTAGATTCCCCATTCAACCCAAGTTAGTAACCATTACCTTACATTAGTTAGCATGTAATAATATTGTTGCAATTTTTACGTAATATGATATATAAAGGCAAGGTCTATTTTCCTGCTATAGGAATTAATGGTCATTTGTCCTAGTGTCATGCTGACAAAGGCCAATGTCAGGAGTTAGGAGATGGTTAAATAGTTAGCATTATAATGTAATGAGCATCAGTTCCACCTAAGAAGATTGGTCACCCAGGAAGACTGATCTCACTGGATTTGTGTTTCAAATTCTGGGTAGCTTATTAGTTGAGTTATGCAATTACTACCTTCATTCAGAGGGTCTTAGGCTATATAACATAATTTTTCTCTGAACTGTGGCCAGGTTGTGAAGGAATATTATTTTTATTTTACATGTAGAAATAGTGGCTAAAATGCATTTTCTCCTCAACTTGGTTTCCTATTTAGCATTCCTAAAACTCCTGTATGCTATATTGGCATGGGCATGAGTTGATAACTGTGTTTACATATACACATAAATATATGTGACATATGTCTTATTGCCTCAAATAAATTATAAACTCTTTATAAGCAAGAAAGTATTTTATGCTTAATTATGTTTGCTGCTATAACTAGGACAGTGTCTTTTACCTGCAATATACTCTATATATGTATACAGAGAGAGTATATGTATATAAATAGATTTGTTAAATTCAATATGATAGTTGTTCCTTATAGTATGTGAACAATACTCACTATAAAGTTTAATGTCTTTCTACAAAATGGCCTTATCCTCATGCTTCATTTGAAAATACGAAAACCATCTTTGGCCAGAGTCTGCTGCATGTAACAATTGAGATGCTTTCTGTGGCTATAACTACCCTGCCTTCTGACCACCTTGACAGATATCTGGACTCTAATGAGCTGTTTTGGCTCTCATAGGAAGTGGTTGAAGCCATTGATCGCAGTGCCTTCATCAACTCTGACCTGCCAATCATCATATTGATTGAGAACCACTGTTCATTGCCTCAGCAACGAAAAATGGCAGAAATTTTCAAGGTGAGCTCTCAACAAAAAGGCAGGATGGTATGTTGGCCCTTGTTTTGCAATTGTCATTGGGTTGTTTTGTTTTGTTTTGTTTTTTGAGACAGAGTCTCGCTCTCTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTGCCTCTGAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCAGCATGCGCCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCGCCATGATGGCCAGGCTGCTCTGGAACTCCTGGCTTCAAGTGATCCACCCATCTCGGCCTCCCAAAGTACTGGGATTATAGGCGTGAGACACTGCACCCAGCCGTCATTAGGTTTAAATGAGGCCTTTGTGGACTATGCTGCAATTAGACCTTGGCTGTGAAGCATATACAGTTAGGGTCCCACAAACCTGAGAAATTGGGCTGTTCTTAGAGCCTGGGCCCTCTCTGGGATGGTCCCTATTTTCAGCTGGAGTGATATAAGTATTGCTCTCTGGTCTCCTTACCCTTTCCAGAAAGCCTTAGGAGATTAGGATAGACCAACTCTCCAACACTTCTGGTACCACAAGTCAGGGATGCCAGGATGTCATCTGTCAGTTGTATGTGGAAAAGCTGAAAATATCTCAGGGCAAGTAAGTCAAATCTTATAGGAGAAGATCATCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGTCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGAACTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAGAGTGCTGGGATTACATACGTGAGGCACCGCACCCAGCCAAGAAGATCTTCTTATACCACAGTACAAAGATCCAAGTTAGCAAAGAGCTTAGACTGGCCAGAACAGTTGCTGTGTTAACAGTCAGTCCTTCCTTATATAAGGGTATGATAATGTATCAGGGGAACCTGCCCCCAATGTTTCAACGTAGGTTCTTTCTATTTTCCCTAAGTGTCAGCCAGTCTGAGATATAAAGAGAAAGAATACAAAGAGAGGAATTTTACAGCTGGGCTGCTGGGGGCGACATCACATATTGATAGGTCCATGATGCCCACCTGAGCCGCAAACCCAGCAAGTTTTATTAAGGATTTCAAAAGGGGTTTACAAACAGGGAGTAGGTCACATGCTTCAAGGGACAAAAGGCAGAGCAAGGATCACATGCTTCTGAGGAAACAGGACCAGGGCAAAATCAGAAACTCCTGATAAGGGTCTACGTTCAGCGGTGTACGTATTGTCTTGATAAACATATTAACAGAAAACAGGGTTCAAGAGCAGAGAACCGGTCTGACCTCAAATTTACCAGGGCTGGGGTTTCCCAATCCTAGTAAGCCTGAAGGTACTGCAGGAGACCAGGGCATGTCTCAGTCCTTATCTCAACTGCATAGGACAGACATTCCCAGAGCAGCTGTTTATAGACCTCCCCCCAGGAATGCAATTCTTTTCCTAGGGTCTTAATATTATATTCCTTGCTAGGAAAAGAATTTAGCAATATCTCTCCTACTTGCACGTCTGTTTATAGGCTCTCTGCAACAAGAAAAATATGGCTCTTTTTGCCTGACCCTGCAGGCGGTCACACCTTATGGTTGTCTTCCCTTGTTCCCTAAAATCGCTGTTATTCTGTTCATTTTCAAGGTGCACTGATTTCATATTGTCCAAACACACATGTTTTACAATCAATTTGTACAATAGTGGTCCTGAGGTGACGTACATTTTCAGCTTACAAAGATAACAGGATTAAGAGATTGAAGTAAAGACAGGCATAA
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Task1_train_14306
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The gene HELLS (helicase, lymphoid specific) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 4
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ACATTTTGATTTAGTACTAAGAAGTCTTAATTTTTGATTCACAAATATATATATCTTCTGGCACAATCTTATTAATAATATCCTACTTAACCATCACTGTAAGAATATTGGGATAGCAGGAAATTTTTTGCCTTTTTGCCCTGTCCTCAACTTTCTATTATGAAAATATCAACTATATGGCAAAGTTGAAAAAAAAAAAGCAACTGTAAATCCGCCTACAATCTGCTGTTAACATTTGACTATACCTTTTTAAAAACACATTTCCTGTAATAGCAGCCTTGCTGTATCCATTCAGCATTTAATCCTGGTTTTTTGGTGCATTTAAAAATAAAATATAGATGATACTACCCTTTTCCGTAATGACTTCAGCATATTTTATCTTTTGGGGTAAAATTTACACATACTGAAGCAAATAATGTATACATTTGCTGAATCTTTCTGACAAATGCATATGTAAATTTATACCTAACCCCTATTAAGATATAGAATGTTACCATCAGCCCAGAAAGTTTCCTGTGCCCCCTTCTAGTCAATTCTCCCCTGCACCCACCCCATGTGTTTAGACAACTACAATTTTTTCATCATTTTTTGATATTAGCTTTTCTTATTTAAACATTGTTGTGATACATGGTTTTTAACAAAATTAAGATCTCTTTAATATAGGTGCTTGGACGATAAAGCTAACAGCACAGGTTTTGTTAACATAATTGTTTTATAGATCTGAATGATTTGTTTGGCCTCCTTTGTTTAAGTCTTTAATAGTTGTAATTGAAAACATTTTTCTCCTTCAGTCTTGTTGGTTAATTTATTTTAATCTGTTGTATTTACATCCTTTTTGCTTTTAGATGCACAGCTTCAACACGGATCCAGAGGTGTTTATCTTCTTAGTGAGTACACGAGCTGGTGGCCTGGGCATTAATCTGACTGCAGCAGATACAGTTATCATTTATGATAGTGATTGGGTAAGTTGGAAGTATAGCAAGGAATATGCTGATTATATTTCCATTTTGAATTTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCCCCTGAGTAGCTGTGACTATAGGTGTACACCACAATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTCTCTTGAATCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTCCATTCTGAATTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGGATTAAGTGCTGGGATTACCAGCATGAGCCACCGCGCCCGGCCATTCTGAATTTTTAATTTTTAATGGTACATGTTACAAATTTACTTATCTATTTTGAAAAGATACCCATTTTCAGCTAAGAGTTATTTCTTCATAAAGTTTTTTGCAAGTAAAAATTGAAAATTTTTTTTTACTTTTGTTTTTAGTGACAGGGTCTCACTATCACCCAGGCTTGAGTGCAGTGGCACCATCACGGCTCAGTAGCCTTGACCTTTTGGATTCAAGTGATCCTCCCACCTCATTCTCTCAAGTAGCTGGGTCTATGGGTGTGCTACCATGCCCACAAAAAATGTAAAAATTAGTGAGACCACGTCTCACTGTTTGCCCACGCTGGTCTTGTATCCTCATATGATCCTCCTGCCTTGGCTTCCCAAAATGCTGAGATTATAGGAGTGAGTCATCGTGCCCATCCTGAAATGTTTTCTTTAGGGTATTTAAACTTTTTTGTTAATATTGTCAAGGATCTGTGGAATGATAATTTTGTCTATGAAGCCACTCTGGAAGTTTAAATTAAGACACCACTATTTAAAAGTTCCTGGCTAGATCATTCATGTTGACTTTATCCACATGAGTTTATGTTAATTTTAACCTAATACCGTTAAATATTATTTTTCTTTTTAACTTTAAGAACCCCCAGTCGGATCTTCAGGCCCAGGATAGATGTCATAGAATTGGTCAGACAAAGCCAGTTGTTGTTTATCGCCTTGTTACAGCAAATACTATCGATCAGAAAATTGTGGAAAGAGCAGCTGCTAAAAGGAAACTGGAAAAGTTGATCATCCATAAAAGTAAATAACACTTATGTAGTGCTTTATTGTTTAAATTGTGCATTGTGTGTTGTGGATTTTGTTTTTATTTTGTTTATAAAATATTACAGCCTGGGCCGAGTTCTGTGTCTCACACCTGTAATCCTAGTACTTTGGGATGCCAAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGGCTGGCCAAGATGGTGAAACCGCGTCTCTACTAACAATACAAAAATTAGCTGGGCTCGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTAACAGAACAAGACTCTGTCTCAAAAAAAAAAATATTAACAGCCTGATATGACAGGATTTAAATAAGCAGTGGGGAATTTGGGAGCCTAAACTAAGTTGGTCACCATAGACATAAAAGAAAGAATGTTAGCGAGTATGTAGATATGTAGATGAAGAGCAGATGGGCAGAGAAAAGGGGTCAAGGATAACTACATGTTCCTGATAAGAGATTGGCTTGCTAAAAGTTTTAAGATAAATATTTTGCAAGTTCCATGTATTAAAATATTAAGTGTATTTAAGTGTTATAAAAAATCTATTTATTTATTGAACCCACTGTTTCACAGAATATTTCACTGCAGAATGCCCTTTTTATAGTTTTGGACACTTTTTTTTCCTTTTTCATTTCCTTATCATAACCAGATGGGTCTCAACAATGCTTTTTAATCTAGAAAAAATTCTGAGGAGGTGGGGAACTGACATAGGTGAAAAAGTTTTGTTCCTGAGATTCCTTAGAGAAGTTATACTTCTATCCATTCACCATAAAATTTTCTTTGAATAAATGGCTTGATAGCTACCTGAAGAAATGTTGAAAATCATTTATGTAAATCATCAAGCCCTAGAGAAATGGGAACATGATAATGTTAATGTGAAAAGTAATGTTGGAAATCACTAATAATTTATTTTATACTCCTTTTCCACTTGTAAATACTTTCTCTGGGTTTTGAGGTAAGAGTGTATTAAGGTTTAGACAAAATTAATTTGGTGAAACATTTAGATTGTAATTGGAACTTGCATTGGGGAAAAAGCATAATTTTTTTTTAAGAGACCATTTAACTTTTTTACCCAGGTTGTTCTCGAACACCTGGACTCAAGTGATCCTCCTGCCTTAGCCTCTTCAAGTGTTGGGCTTATAGGTGTGAGCCACTGTGCTCAGCCCTATTTTCGATTTTTTAGTAGATTAATTTTGTAGAAAATTTTGAAGGGATTTTTTTAAATGCTGACATTTTTCAGTTGAGTTATTACATACATACAGCAAAATGCACAGATCTTAAATGTACAGGTTAATGAAGTTTGACCAGATTTATGTACTCCTATGTAACTATCATCGAGATCAAGGTAGCATTTTCATCATCCAAGAAATTTTCTTTGTTCACCCTTTCCAGTAATTCCTATGCTCCCCTTACCATCACTAGGAAGCATCCAGTATTCTGATTTTTGTCACACTGATGAGTCTTTTTTCTGTTTAGCTATTTTGTTGAATATATTTTTTCAACACAGAGTCATCTGTGTTGTTTTTAGTAGAATTTTTTTCTTTTAATTGGTGAATAGTTTGTTTTTTCCATTCTCCTGTTGGTCGACATTTAAATTATTTCTAGATTCTGGTTATTATGAATAAGTTGGTCCTGTACAAGTCTTTGTGGACATAATGCATTTTTTGGTCCTTGATCTTAGGGAGGGTGCGTGTTTAACTACTGGAAACTACCAGCCTTTTCCAAAGTGGACATATCATTTTCCAGTCCTACCAGCGAAGCCTGAGAGCTTCATTTGCTTTTATTTTTTATCAA
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ACATTTTGATTTAGTACTAAGAAGTCTTAATTTTTGATTCACAAATATATATATCTTCTGGCACAATCTTATTAATAATATCCTACTTAACCATCACTGTAAGAATATTGGGATAGCAGGAAATTTTTTGCCTTTTTGCCCTGTCCTCAACTTTCTATTATGAAAATATCAACTATATGGCAAAGTTGAAAAAAAAAAAGCAACTGTAAATCCGCCTACAATCTGCTGTTAACATTTGACTATACCTTTTTAAAAACACATTTCCTGTAATAGCAGCCTTGCTGTATCCATTCAGCATTTAATCCTGGTTTTTTGGTGCATTTAAAAATAAAATATAGATGATACTACCCTTTTCCGTAATGACTTCAGCATATTTTATCTTTTGGGGTAAAATTTACACATACTGAAGCAAATAATGTATACATTTGCTGAATCTTTCTGACAAATGCATATGTAAATTTATACCTAACCCCTATTAAGATATAGAATGTTACCATCAGCCCAGAAAGTTTCCTGTGCCCCCTTCTAGTCAATTCTCCCCTGCACCCACCCCATGTGTTTAGACAACTACAATTTTTTCATCATTTTTTGATATTAGCTTTTCTTATTTAAACATTGTTGTGATACATGGTTTTTAACAAAATTAAGATCTCTTTAATATAGGTGCTTGGACGATAAAGCTAACAGCACAGGTTTTGTTAACATAATTGTTTTATAGATCTGAATGATTTGTTTGGCCTCCTTTGTTTAAGTCTTTAATAGTTGTAATTGAAAACATTTTTCTCCTTCAGTCTTGTTGGTTAATTTATTTTAATCTGTTGTATTTACATCCTTTTTGCTTTTAGATGCACAGCTTCAACACGGATCCAGAGGTGTTTATCTTCTTAGTGAGTACACGAGCTGGTGGCCTGGGCATTAATCTGACTGCAGCAGATACAGTTATCATTTATGATAGTGATTGGGTAAGTTGGAAGTATAGCAAGGAATATGCTGATTATATTTCCATTTTGAATTTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCCCCTGAGTAGCTGTGACTATAGGTGTACACCACAATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTCTCTTGAATCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTCCATTCTGAATTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGGATTAAGTGCTGGGATTACCAGCATGAGCCACCGCGCCCGGCCATTCTGAATTTTTAATTTTTAATGGTACATGTTACAAATTTACTTATCTATTTTGAAAAGATACCCATTTTCAGCTAAGAGTTATTTCTTCATAAAGTTTTTTGCAAGTAAAAATTGAAAATTTTTTTTTACTTTTGTTTTTAGTGACAGGGTCTCACTATCACCCAGGCTTGAGTGCAGTGGCACCATCACGGCTCAGTAGCCTTGACCTTTTGGATTCAAGTGATCCTCCCACCTCATTCTCTCAAGTAGCTGGGTCTATGGGTGTGCTACCATGCCCACAAAAAATGTAAAAATTAGTGAGACCACGTCTCACTGTTTGCCCACGCTGGTCTTGTATCCTCATATGATCCTCCTGCCTTGGCTTCCCAAAATGCTGAGATTATAGGAGTGAGTCATCGTGCCCATCCTGAAATGTTTTCTTTAGGGTATTTAAACTTTTTTGTTAATATTGTCAAGGATCTGTGGAATGATAATTTTGTCTATGAAGCCACTCTGGAAGTTTAAATTAAGACACCACTATTTAAAAGTTCCTGGCTAGATCATTCATGTTGACTTTATCCACATGAGTTTATGTTAATTTTAACCTAATACCGTTAAATATTATTTTTCTTTTTAACTTTAAGAACCCCCGGTCGGATCTTCAGGCCCAGGATAGATGTCATAGAATTGGTCAGACAAAGCCAGTTGTTGTTTATCGCCTTGTTACAGCAAATACTATCGATCAGAAAATTGTGGAAAGAGCAGCTGCTAAAAGGAAACTGGAAAAGTTGATCATCCATAAAAGTAAATAACACTTATGTAGTGCTTTATTGTTTAAATTGTGCATTGTGTGTTGTGGATTTTGTTTTTATTTTGTTTATAAAATATTACAGCCTGGGCCGAGTTCTGTGTCTCACACCTGTAATCCTAGTACTTTGGGATGCCAAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGGCTGGCCAAGATGGTGAAACCGCGTCTCTACTAACAATACAAAAATTAGCTGGGCTCGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTAACAGAACAAGACTCTGTCTCAAAAAAAAAAATATTAACAGCCTGATATGACAGGATTTAAATAAGCAGTGGGGAATTTGGGAGCCTAAACTAAGTTGGTCACCATAGACATAAAAGAAAGAATGTTAGCGAGTATGTAGATATGTAGATGAAGAGCAGATGGGCAGAGAAAAGGGGTCAAGGATAACTACATGTTCCTGATAAGAGATTGGCTTGCTAAAAGTTTTAAGATAAATATTTTGCAAGTTCCATGTATTAAAATATTAAGTGTATTTAAGTGTTATAAAAAATCTATTTATTTATTGAACCCACTGTTTCACAGAATATTTCACTGCAGAATGCCCTTTTTATAGTTTTGGACACTTTTTTTTCCTTTTTCATTTCCTTATCATAACCAGATGGGTCTCAACAATGCTTTTTAATCTAGAAAAAATTCTGAGGAGGTGGGGAACTGACATAGGTGAAAAAGTTTTGTTCCTGAGATTCCTTAGAGAAGTTATACTTCTATCCATTCACCATAAAATTTTCTTTGAATAAATGGCTTGATAGCTACCTGAAGAAATGTTGAAAATCATTTATGTAAATCATCAAGCCCTAGAGAAATGGGAACATGATAATGTTAATGTGAAAAGTAATGTTGGAAATCACTAATAATTTATTTTATACTCCTTTTCCACTTGTAAATACTTTCTCTGGGTTTTGAGGTAAGAGTGTATTAAGGTTTAGACAAAATTAATTTGGTGAAACATTTAGATTGTAATTGGAACTTGCATTGGGGAAAAAGCATAATTTTTTTTTAAGAGACCATTTAACTTTTTTACCCAGGTTGTTCTCGAACACCTGGACTCAAGTGATCCTCCTGCCTTAGCCTCTTCAAGTGTTGGGCTTATAGGTGTGAGCCACTGTGCTCAGCCCTATTTTCGATTTTTTAGTAGATTAATTTTGTAGAAAATTTTGAAGGGATTTTTTTAAATGCTGACATTTTTCAGTTGAGTTATTACATACATACAGCAAAATGCACAGATCTTAAATGTACAGGTTAATGAAGTTTGACCAGATTTATGTACTCCTATGTAACTATCATCGAGATCAAGGTAGCATTTTCATCATCCAAGAAATTTTCTTTGTTCACCCTTTCCAGTAATTCCTATGCTCCCCTTACCATCACTAGGAAGCATCCAGTATTCTGATTTTTGTCACACTGATGAGTCTTTTTTCTGTTTAGCTATTTTGTTGAATATATTTTTTCAACACAGAGTCATCTGTGTTGTTTTTAGTAGAATTTTTTTCTTTTAATTGGTGAATAGTTTGTTTTTTCCATTCTCCTGTTGGTCGACATTTAAATTATTTCTAGATTCTGGTTATTATGAATAAGTTGGTCCTGTACAAGTCTTTGTGGACATAATGCATTTTTTGGTCCTTGATCTTAGGGAGGGTGCGTGTTTAACTACTGGAAACTACCAGCCTTTTCCAAAGTGGACATATCATTTTCCAGTCCTACCAGCGAAGCCTGAGAGCTTCATTTGCTTTTATTTTTTATCAA
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Task1_train_14307
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A variant has been detected on Chromosome 10 in CYP2C9 (cytochrome P450 family 2 subfamily C member 9). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Warfarin response
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TTGGTGAGAATGTTGAGAAATATGAACCCTCTTACACTGTTGGTAGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTTAAGGATCTAGAACTAGAAATTCCACTTGACTCAGCAATCCCATTACTGGGTATATGCCCAAAGGATTATAAACCATTCTACTATAATGACACACGCCCATGTATGTTTATGTGGCACCGTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATGTACTGGATAAAGAAAATGTGGCACATATACACCATGGAATACTACACAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGAACATGGATGAAGCTGGAAATCATCATCCTCAGCAACTAACACAGGAACAGAAAACCAAACTCCACATGTTTGCACTCATAAATGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACACATGGGACCTGTTGGGGCACGGGGGGCCAGCAGGGGGACAGCATTAGGACAAATACCTAATGCGTGTGGGGCTTAAAACCTAGATGACAGGTTCATAGGTGCAGCAAACCACCATGGCACATGTATACCTCTGTAACAAACCTGCACGCTCTGCACATGTATCCTGGAACTTAAAGTAAAATAAAAGAAAATTTAAAAAATATAAAGTTTATCGATCACTTGATTATAACAACTTCATTTCAGAGATCCTCCACCAAACAAGAAAACTTTTCCTATAATTTAATTCATTTAGCTATTAAATGATACGCTGGGCCTAATCAATATCAAATTAAATAGGTTAAATTTGCAGGATGATTAGAGATGAGGGCATTTAGTTCCTAAAGAAGAAAATTCATTTTAAAAAAGGTACAGAAGAAAAAAACTCCACTTATCAATTTACACTTTCTTGTTTGCCTTACCTGGGATTTATATTTAAAATAAAAGTTTTTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCACAACTTTGGGAGGCCAAGGCTGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCTGTCTCTACTAAATATACAAAATTAGCTGGATGTGGTGGCACATGCCTGTAATCCCAGCTACCTGGGAAGCTCAGGTGGAGAATCACTTGAACCTAGGAAGCAGAGGTTGTGGTGAGCTGAGATCGTGCCATTACACTCCAGCCCAGGCAACAAGAGTGAAACTCCATCTCAAAACAAACAAATAAACAAAAAACAACAACAACAAAAAACAACAACAAAGTTTTCATTTAATTTTTTAACAAACTAATCTATGTTAATTTGATATTAGTTTGTTAACATAACAAACTAATAATATGTTAGGCATATTATTCATTTATATTTGTTTTCCTTCTCATAAAACACATTCTGCTCTTACATTTATTTTCTTAAATACATGAATTCACCAACAGTCTCTTTGGTTCCTCTCTACTGGTTCAACACATGACTCTTTCAGCTATTCATTATATATAAAAAGCTTTGAAATCTCCAACTATTCTTGCCCTTTCCATCTCAGTGCCTTGCTGTCTACTGACTTTGCAGACTGATGTGATTCCCTCTGAAACATGAATTATTAGGTTTTTAGAAAATGCCTTTTTGTTCTTTCCAAAGTAAAAGACAAATAGGCTGGGAATGTAAATTTAGCATTTGAACAACCATTATTTAACCAGCTAGGTTGTAATGGTCAACTCAGGATTAATGTAAAAGTGAAGTGTTGATTTTATGCATGCCGAACTCTTTTTTGCTGTTAAGGGAATTTGTAGGTAAGATAATTTCTAAACTACTATTATCTGTTAACAAATACAGTGTTTTATATCTAAAGTTTAATAGTATTTTAAATTGTTTCTAATTATTTAGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGATCTGCTCCATTATTTTCCATAAACGTTTTGATTATAAAGATCAGCAATTTCTTAACTTAATGGAAAAGTTGAATGAAAACATCAAGATTTTGAGCAGCCCCTGGATCCAGGTAAGGCCAAGATTTTTGCTTCCTGAGAAACCACTTATTCTCTTTTTTTTCTGACAAATCCAAAATTCTACATGGATCAAGCTCTGAAGTGCATTTTTGAATACTACAGTCTTGCCCAGACAGCCTTGGGGTGAATATCTGGGAAAGACGGCCAAGCCCTTTATTTTATGCATGGGAAATAAATGCCTCAATATAGGCCTGATTTCTAAGCCCATTAGCTCCCTCATCAATGTTTTTTCTGCTAAACTCCAAAGCCCTGTTTCTGTAAAGTACTTTGTTGACAGCCCTAAAGCGTGCTCATAGCACTCCATGGATATCCAGGCACTTTGGAGGCTCCCATTACTCACAAGACTTGTCCTTCAATTAACACTTTGTCGTATTATGTGGCAGAAATATCCTAATTTAAAAGACATTATCTCCTTCTAGTAGGGAGAATATTTGGGACCATAGAAGCTGCCAAGAAACACTGAATAGGGCAGGGGTGTTTGATATCTCAGTTGGGATCCTAGCTGATGAGATAGCTGGGTTAGGAATGACAAAATTATTGGTTTTATGGTGTATGAACCATAAACAGACATCACACTTATACCCTGTGCTGAGCTGGCATGTTTTATTCTCTGCCTAAATAATAATTGTGTGATTTTATAGAAGTCATTTAACTGCTCTGGTGCACAGTTGGAATTTGAAGTATCTTTGAGCCCCTCCCACTTCTAAAATACTAATTCCATTTCAGAGGCTGCTTGATAGAAATCAATATAGTAGGGACTAGCTTTGTACTATCAATCAGGTTGTCCAAATTCTTTTAACCTATGCTGTCATCTACAAAACGTGAATGTAGTAATTCATGCCATCTTATATTTCAAGATTATAGAGAAGAATTGTAAAAAGTAACAGAATTAACATAAAGATGCTTTTATACTATAAAAAGGAGGTCTGAGTCTAGGAAATGATTATCATCTGGTTAGAATTGATCCTCTGGTCAGAATTTTCTTTCTCAAATCTTTTATAATCAGAGAATTACTACATATGTACAATAAAAATTTCCCCATCAAGATATACAATATATTTTATTTATATTTATAGCTGTAATTTACAACCAGAGCTTGGTATATGGTATGTATGCTTTTATTAAAATCTTTTAATTTAATAAATTATTGTTTTCTCTTAGATCTGCAATAATTTTTCTCCTATCATTGATTACTTCCCGGGAACTCACAACAAATTACTTAAAAACGTTGCTTTTATGAAAAGTTATATTTTGGAAAAAGTAAAAGAACACCAAGAATCAATGGACATGAACAACCCTCAGGACTTTATTGATTGCTTCCTGATGAAAATGGAGAAGGTAAAATGTAAACAAAAGCTTAGTTATGTGACTGCTTGTGAATTTGTGATTTGTTGACTAGTTCTGTGTTTACTAAGGATGTTTAACTGGTCAATCAGTAATGCTTGAGAAGCACTTTAAGTTTTTATTGTATGAATGAATAACAAAATAGACCACTAGCTAGACTAATAAAGAAGAAAAAAGAGAAGAATCAAATAGACACAATAAAAATGATAAAGGGGAGATCACCACTGAGCCCACAGAAATATAAACTACCATCAGAGAATAGTATAAACACCTCTATGCTAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCATGGACACATACACTCTCCCAAGACTAAACAAGGAAGAAGTCAAATCCCTGAATAGACCAATAACAAGTTCTGAAGTTGAGGCGGTAGTTAATAGCCTAACAACCAAAAAAAGTCCAGGACCAGATGGATTCACAGCCAAATTCTACCAGGGGCACAAAGAGGAGCTGACACTATTCCTTCTGAAACTATTCCAAATAATAGAAAAAGAGGGACTCCTCCTTAACTCATTTTATGAGGCTAGCATCATCCTGATACCCAAACCGGGCAGAGACATAACAGAAAAAGAACATTTCAGGCCAATATCCCTGATGAACACCAATGCAAAAATCCACAACAAAATACTGCCAAACCAAATCCAG
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TTGGTGAGAATGTTGAGAAATATGAACCCTCTTACACTGTTGGTAGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTTAAGGATCTAGAACTAGAAATTCCACTTGACTCAGCAATCCCATTACTGGGTATATGCCCAAAGGATTATAAACCATTCTACTATAATGACACACGCCCATGTATGTTTATGTGGCACCGTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATGTACTGGATAAAGAAAATGTGGCACATATACACCATGGAATACTACACAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGAACATGGATGAAGCTGGAAATCATCATCCTCAGCAACTAACACAGGAACAGAAAACCAAACTCCACATGTTTGCACTCATAAATGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACACATGGGACCTGTTGGGGCACGGGGGGCCAGCAGGGGGACAGCATTAGGACAAATACCTAATGCGTGTGGGGCTTAAAACCTAGATGACAGGTTCATAGGTGCAGCAAACCACCATGGCACATGTATACCTCTGTAACAAACCTGCACGCTCTGCACATGTATCCTGGAACTTAAAGTAAAATAAAAGAAAATTTAAAAAATATAAAGTTTATCGATCACTTGATTATAACAACTTCATTTCAGAGATCCTCCACCAAACAAGAAAACTTTTCCTATAATTTAATTCATTTAGCTATTAAATGATACGCTGGGCCTAATCAATATCAAATTAAATAGGTTAAATTTGCAGGATGATTAGAGATGAGGGCATTTAGTTCCTAAAGAAGAAAATTCATTTTAAAAAAGGTACAGAAGAAAAAAACTCCACTTATCAATTTACACTTTCTTGTTTGCCTTACCTGGGATTTATATTTAAAATAAAAGTTTTTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCACAACTTTGGGAGGCCAAGGCTGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCTGTCTCTACTAAATATACAAAATTAGCTGGATGTGGTGGCACATGCCTGTAATCCCAGCTACCTGGGAAGCTCAGGTGGAGAATCACTTGAACCTAGGAAGCAGAGGTTGTGGTGAGCTGAGATCGTGCCATTACACTCCAGCCCAGGCAACAAGAGTGAAACTCCATCTCAAAACAAACAAATAAACAAAAAACAACAACAACAAAAAACAACAACAAAGTTTTCATTTAATTTTTTAACAAACTAATCTATGTTAATTTGATATTAGTTTGTTAACATAACAAACTAATAATATGTTAGGCATATTATTCATTTATATTTGTTTTCCTTCTCATAAAACACATTCTGCTCTTACATTTATTTTCTTAAATACATGAATTCACCAACAGTCTCTTTGGTTCCTCTCTACTGGTTCAACACATGACTCTTTCAGCTATTCATTATATATAAAAAGCTTTGAAATCTCCAACTATTCTTGCCCTTTCCATCTCAGTGCCTTGCTGTCTACTGACTTTGCAGACTGATGTGATTCCCTCTGAAACATGAATTATTAGGTTTTTAGAAAATGCCTTTTTGTTCTTTCCAAAGTAAAAGACAAATAGGCTGGGAATGTAAATTTAGCATTTGAACAACCATTATTTAACCAGCTAGGTTGTAATGGTCAACTCAGGATTAATGTAAAAGTGAAGTGTTGATTTTATGCATGCCGAACTCTTTTTTGCTGTTAAGGGAATTTGTAGGTAAGATAATTTCTAAACTACTATTATCTGTTAACAAATACAGTGTTTTATATCTAAAGTTTAATAGTATTTTAAATTGTTTCTAATTATTTAGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGATCTGCTCCATTATTTTCCATAAACGTTTTGATTATAAAGATCAGCAATTTCTTAACTTAATGGAAAAGTTGAATGAAAACATCAAGATTGTGAGCAGCCCCTGGATCCAGGTAAGGCCAAGATTTTTGCTTCCTGAGAAACCACTTATTCTCTTTTTTTTCTGACAAATCCAAAATTCTACATGGATCAAGCTCTGAAGTGCATTTTTGAATACTACAGTCTTGCCCAGACAGCCTTGGGGTGAATATCTGGGAAAGACGGCCAAGCCCTTTATTTTATGCATGGGAAATAAATGCCTCAATATAGGCCTGATTTCTAAGCCCATTAGCTCCCTCATCAATGTTTTTTCTGCTAAACTCCAAAGCCCTGTTTCTGTAAAGTACTTTGTTGACAGCCCTAAAGCGTGCTCATAGCACTCCATGGATATCCAGGCACTTTGGAGGCTCCCATTACTCACAAGACTTGTCCTTCAATTAACACTTTGTCGTATTATGTGGCAGAAATATCCTAATTTAAAAGACATTATCTCCTTCTAGTAGGGAGAATATTTGGGACCATAGAAGCTGCCAAGAAACACTGAATAGGGCAGGGGTGTTTGATATCTCAGTTGGGATCCTAGCTGATGAGATAGCTGGGTTAGGAATGACAAAATTATTGGTTTTATGGTGTATGAACCATAAACAGACATCACACTTATACCCTGTGCTGAGCTGGCATGTTTTATTCTCTGCCTAAATAATAATTGTGTGATTTTATAGAAGTCATTTAACTGCTCTGGTGCACAGTTGGAATTTGAAGTATCTTTGAGCCCCTCCCACTTCTAAAATACTAATTCCATTTCAGAGGCTGCTTGATAGAAATCAATATAGTAGGGACTAGCTTTGTACTATCAATCAGGTTGTCCAAATTCTTTTAACCTATGCTGTCATCTACAAAACGTGAATGTAGTAATTCATGCCATCTTATATTTCAAGATTATAGAGAAGAATTGTAAAAAGTAACAGAATTAACATAAAGATGCTTTTATACTATAAAAAGGAGGTCTGAGTCTAGGAAATGATTATCATCTGGTTAGAATTGATCCTCTGGTCAGAATTTTCTTTCTCAAATCTTTTATAATCAGAGAATTACTACATATGTACAATAAAAATTTCCCCATCAAGATATACAATATATTTTATTTATATTTATAGCTGTAATTTACAACCAGAGCTTGGTATATGGTATGTATGCTTTTATTAAAATCTTTTAATTTAATAAATTATTGTTTTCTCTTAGATCTGCAATAATTTTTCTCCTATCATTGATTACTTCCCGGGAACTCACAACAAATTACTTAAAAACGTTGCTTTTATGAAAAGTTATATTTTGGAAAAAGTAAAAGAACACCAAGAATCAATGGACATGAACAACCCTCAGGACTTTATTGATTGCTTCCTGATGAAAATGGAGAAGGTAAAATGTAAACAAAAGCTTAGTTATGTGACTGCTTGTGAATTTGTGATTTGTTGACTAGTTCTGTGTTTACTAAGGATGTTTAACTGGTCAATCAGTAATGCTTGAGAAGCACTTTAAGTTTTTATTGTATGAATGAATAACAAAATAGACCACTAGCTAGACTAATAAAGAAGAAAAAAGAGAAGAATCAAATAGACACAATAAAAATGATAAAGGGGAGATCACCACTGAGCCCACAGAAATATAAACTACCATCAGAGAATAGTATAAACACCTCTATGCTAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCATGGACACATACACTCTCCCAAGACTAAACAAGGAAGAAGTCAAATCCCTGAATAGACCAATAACAAGTTCTGAAGTTGAGGCGGTAGTTAATAGCCTAACAACCAAAAAAAGTCCAGGACCAGATGGATTCACAGCCAAATTCTACCAGGGGCACAAAGAGGAGCTGACACTATTCCTTCTGAAACTATTCCAAATAATAGAAAAAGAGGGACTCCTCCTTAACTCATTTTATGAGGCTAGCATCATCCTGATACCCAAACCGGGCAGAGACATAACAGAAAAAGAACATTTCAGGCCAATATCCCTGATGAACACCAATGCAAAAATCCACAACAAAATACTGCCAAACCAAATCCAG
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Task1_train_14308
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The gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; ALDH18A1-related de Barsy syndrome
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CACTCCTCTGCCTATGGTTTTTCCTTCTTCCTGCTGGCTGGAATGCAGTCCTGATGGTTGGAATGCCACTACCATGTGGACAAGAGCCTTACCCTAGGACAGAAGAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCCGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACG
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CACTCCTCTGCCTATGGTTTTTCCTTCTTCCTGCTGGCTGGAATGCAGTCCTGATGGTTGGAATGCCACTACCATGTGGACAAGAGCCTTACCCTAGGACAGAAGAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATAAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCCGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACG
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Task1_train_14309
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A variant found in Chromosome 10 affects ALDH18A1 (aldehyde dehydrogenase 18 family member A1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; ALDH18A1-related de Barsy syndrome
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCCGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCTGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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Task1_train_14310
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A mutation on Chromosome 10 affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Cutis laxa, autosomal dominant 3
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCCGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCTGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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Task1_train_14311
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A variant affecting Chromosome 10, within the gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal dominant spastic paraplegia type 9
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCCGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCTGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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Task1_train_14312
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A mutation in ALDH18A1 (aldehyde dehydrogenase 18 family member A1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; de Barsy syndrome
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCCGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTCTATTTAAGATTCCTGGGCATTTGTTGTCTGGTTGGGAGCTCATTGTGGTATTTGTGACAGTTTCAGGCAGGACTGTTTATAGCCTTTTCAGGCAAGCTATGCCAGAACTCCTCATCCAGAGGGCAGGGCAGTCAGGGTGACTTGCCAGACCATGTAAGGGTCTGGAGGAGAGGCAGGCTGTGCAGCCAGCCTGGGAACATGTTCCACATGACACCATCATTCTTGTGCTGGTAAAACATCCTCAGAGGAAAAGCAGCAGCATCGTAAGCGAGTGCTTATTTCTTTAGGAGGCCCCCATGAAATCTTTCAACTGCAGACTGTCAGGCACCAGGGGCCCTAAGGACAGGAGCTAGAGATGGAGGGAGAGTGGGGAGGGTCCGAGCTGTCAAGTGATCCTGAGGCAACAGGACTGGCAGGGAGGAGCTGGGGGGATGCAGTGAACTAAGGATGTCAGCTGGGGCTATGTGCCACCGCGGGAGCTCGCTCAGGTTGGACCCCACCAACTTCAGACCTTCACTGCACTTTTAGTCTTCAAGCTCTTGGGGCTTAATCTCCTGTTTTCCTTTCCTGTCTCTCCGTCTGAGTCCCTCTGTGGGGACTGCCTATGTTGCTTCCACCAACAAACACTGTTGAGGCAGATGTCTTGTCTCCCCAGACAGCTTCCAGAGAAGAGACCATGCCCACAAGCAGGGCACGAGGGTCACAAGAGAGGAAAAGGAAGGGGGTAACAACAATTAAGGGAGAAAACTTCAATCACGCACAGGCTTTTCATAAAAAACTTTATTTCTCAAAAAAGGGGGAAGAATCCAAAGTATTAAAATAATCCTCTAATTTTTGTTTTGGAGGAAAAGGGTAGGACGACAAAATAATTCATACAAAAATTTCAAGCATCACTGCTGTAGATATTCCTCCAGCTCAGTGGGGAACATCCTGAAACTTGCATCTCCTGCTGCAGCTTGGGTTCCAGCTGCATCACGGGGAACACAGCATCTCCTGGATGCAGGAAGCTGCAAGCATCTGGAATGCTTATTAATTTACCCCACAAATAAATACAAAAGGTCAATCTTCCCAGTGGAAATGATTCCATCGATTTTTGTGACTTTCTGATGAGAATGCTAAAAAGAAGAGTTGCCCCTTTTCTAAAATTCCAAATCTTTCCTTTTTGAAGATGACTACATGTGAAAGAAATAAAATGTGAAAAGATTTGTTAAGGATGACTGGCTCTAGTACCAACTAAATGCCAAGGGGGACTGTAAGTCACTGAGGTGACACAAAGCAGCCATGGGTTTTCCTCGCCTTTTTTATGGGGAAAATGCACCTTTCAATCCTAGAAGATAATTGGACTTGGCAAAGTCCCTATCGGTAGCAACTATTTTCTTACTTTAAAAAAAAAGGGTGAGCTGGGAGCCAGACTGTGCACATCAGCCAAGACTGCTATTGCCAAACGGAGCCCAGAAGCATCCAGGTACACTTTCCAACAGGCAGACCCTACCAGGAACTGGGAGACAAGAGCGGGCTCTCTCCTGAGATAAGACAAGTTTAACGTGAAGACCTTTTGGAAAATTCCCGGGTTTTCCTGGCTCTTTTCAGTTGGTGTTTCTCTGAGGAATAGGGAGGTTCTCATGAAGATATTTTAAACTTCCATGCTCTGAGAAATCTGAGACCACGTGGTCCTTCCCTCGCAGCAGCCACTTAGTAGTAAGCAGTCCCTCAAGTCCTACTGGTCCCTGGGCGTGGATTCTCGATGTACTGATTCCCACTTCAGCTCCTGTGAAAAAGCATGAATAAAAGATGTAGCTTTTCCCAGCCTCTGCTTCCTGTCCATGCCCCAGACCCACCCTGCTGCTTTCCCCTCACTTGGTACCCTCTCTTCCTGCTAACTCCTCATCCATCCTCCCCAGAAGAGCTGAGTCACCCTGTTCCCATAAACATGTTCTTCGATTACTACAAATCATGATACACTCCTTCTCGTGAAACAGTGTGTGGACTCTTCTTCTGTATTTTATCCCCAGTGCATTTTGACAATGCTATTAATACAAGTGCTGTCTCTTTTATCAGTTTAGCATCTGAATTGCATACCATATTTTGACATTTGGGCATGTTTTGAGGGGTACGACAATGTTTACCATGATGGTTTCACCTCCTCAAATACTCTTTAAATCTTAGAAAGAAAGGGACATGTTTGTGGTATCCCCTAGAAGTCTTAGCACAAGGGACTCATTAGACAGTTACTGAATACATCAAAGGGTTACTGTTCATTCCCTTTTCTCTTGCTCCCAGCTCAGACCTAGGGAACGTCAGGGGTTTTCCTGGCCCTGGCTTGGTGTTCTGCACTGTATACAGTGGAGGCAGGGTTCCCTCAATCATCACAACTTTACTGAGCATGTACTATGTACTAGGCACTGTGTTGAGCCCTGGGGATAAAGTGGTGAATAATAGATACAAGGCCCTGTTTTTGTGGCGCTGATATTATAGCAGGCGAGGCAGCCAAAGGACAGGTGAGTAAATAGTCTCCTGTGGTGCTCAAGTGCAGTGATGGGTGCTATGACAGAGGCTGTGTGGTGGAGCTGGGGACACGCTGGGTAGGATGGTCAGGGAAAGCCTCCCTAAGGAAGTGCCTTTTGGTTGGGACCTGAACAGTGAGAAGGAGCTGGCTGGAGAAAACCAGACAGAGGTGCTGCAGGCAGAGAGAAGAGCAAGTACGAGACACAGTAGGGGCGGGATGTGCTTGGGGTAGTGGTTGGCAAGGAGAGTGAAACCAGCAGGATTCAAATTCTGGTTCAATAGCATACAGACCACATGACTTTGGACATACTACCTAACTTTATGTCTCATGCCTCAGTTTCTTCATCTGGAAAATGAGAATTCATCTTGTAGAATGAAGTGAGAGCATGCTTGCGACACATTTAGCACAGTGCTGGGAATGTAGTAAATGCTCAGTAAAATCTGTTACTGTCATTAATGCATTTCACAAGGAATTTAACTCAACCAGCTTTCACTCTGAGCTGGTGTTGGAAGGACAATGAAATGATCTTTTGTTCTTCCTTCATCCTGGATTTTCATTTGAATGCTGGGTGCCCCAGCCCTTAAAAATATGTTGCTATTTCTTTTTCAAGTACATGGAGAGTATAAAGATCAATGCAAGTGATGTGATAATTACATCAAAATCCCAACATAATACAAATGGGGAACTAAAAATAAAGAGTATCATGATTAAGAATAACTGAGTTAAATTCCCTTTCATAACCTTTTAACAATTTGGTGAGAATTATTTCTCCAGGCAGATCATCTACTCAAAAAGTTCAGAAGGATTAAAATGTGTGTCTTTCTGTTTTGTTTTGTTATACAGATAGGGCCTCACTCTCTCCCAGGCTGGAGTACAATGGCATCATCTTAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGGGATCCTCTTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCTCACGCCACCACACCTGGATAATTTTTTCATCTCTGTAGAGAGGAGGTCTCGCTGCGTTGCCCAGGCTGGTCTCGAACTCCCCGACTCATGAGATCCTCCTGCTTCAGCCTCTCAAAGTGCCGGGATTACAGGTGTGAGCCACTGCCCGTGGCCTAAAATGTTTTGAGTGGTTGAAATAATTCTCAAATATTCAGAAAACGTGTCATAAATGTATTATTGGAGGTTTTTTGTCTGTTTTGTTTTTTGAGATGGAGTTTAGCTCTTGTTGCCCAGGCTAGAGCGCAATGGTGCGGTCTCGGCTCAC
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Task1_train_14313
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Given a variant located on Chromosome 10 and affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hereditary spastic paraplegia 9A
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TTGTACTTCTGGCTGGCCTGTTTGTTTTGATGCTGGTACTTAGGCCCACGGCACCTTCTTTTGTCCTACCATTGTGGGGTTTCCTATCTCCGAGGCAACCTGGCTGTGCCATTTTGACGAAATAAGTCTGTAAAAGGAGTGCTCTCAAGGGACACAGCATGTACCTCTGGCGCAGCCTGTGTAAAAAGGCAGGCTGTGGTTGCCCACGCTGTAGCGGGAGAACCCAGGCTTTGGACTTGCTCAAGTTTGGGTCTGAATGCCAGCTGTGGGACTTTGGGCAAGTTACTATACTTCTCTGAATCTCATTCTCCCTCTTTGAAAAATGAATACAAGTACCTGCCTTCTTAGCATGTGAAATGCTTAGAAGATAGGCCTTCCACCAACTCATGGGAGGTTTCATTAATTATTCTCCCTGATAATCCTACCTTGCCAGAAGTCTGTCTCTATTTTTTTTTTTTTTTTGAGATGGTGTCTCACTCTGTCCTCCAGGCTGGAGTGCTGTAGCGTAATCTCGGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCTGTTTCTCTCTTATCTTGACCAAGCATGTGACAGTCAAGGGGAGGTGTCTTTCCCACCTCAACATACCCCTAGACCACACAGTGCTTCACAAGGAACTTCTTTCTTCCCAACCAGAGTCTTTCTTACCCAGTCCAAAGCGGTAACCATCAGAAAAGCGAGTGCTGGCATTCCAGAACACACAGGCACTGTCTACGTGCTGCAGGAAGAACTCCGCTGTGTTTTCTGCAGGGTGAAGAAGGAGAAACCAAGTTAGGATGATACCCAGAGAACATCCCTGTTTCCAGCCATTGACTGGTGACAGATCAGGGCAGGGTCTGGGTCCCCACTGGGGCCTCTCCATGTGTTCTCACGTATTAAATACTCAGGCTTATGAAAAATCTCAACAGGAAGAAGACAAGTTAGCTTCATCAATCACGGTGTTGTGGAAAGACTGAGTTGGAATCCAGATCTCCCATGCAGGTGACCTGCCTAAACTTCCTACTTATGGGCTCCAGAGCCAGACTTCCTAGGCCTGAACTCCAGCTGTACACCTGCTAGCTTTGTGACCTTCTGCAGGTGTACAAAACTCTCTGTGTCTGGGTCAAAAGGGACTTACAACATGACCTAGCTGATAGGGTTGTAGAGAGGATGAAACACCTGGGGAGTACTCATGCTAGTGCCTAGCACACAGTGAGTGCTTGGTAAATGTTGGCTGTTAATACGGGTGGTACTGCTCTGGTGCCCTAATTAGCTGACTGTAAATTCCTCATTGGGGCCCTACTGGCATCCTCCACCATTGAGGCTCCAGTATCTGACACCCAGGAGTGTCCCTGCATACATATTTGTGGAATAAATGAATGAATGAATGAATGTGCAGAGTTGGTTCTGCCTTGGTTTCCTCAGCTGTAAAATGGGTTTATTTTAACTACCTTGTAAGATTTGCTGCACGCATTAAATGATAGTGCCTCTGACAGGGTTAGTCATCTTCGAAGCAGAGCTAATCATCCCTGCCCCTCCTCCTCCAGCTGTGACAATATAATAAAGTGATGTGAAAGCACTCATCAAAGTACCAAATGCAACCACTACTAAACATTACCATAAGCCTACTCAAATGATGTTTTTCTGCAGCCCAAGGGGGGCTAAGAGGAGCAGGATCAGAAAGCAGCAAAGGCAGACACTGTATGCGGGAAGCATCTGGACACTGACCGTCCTCTGTGACGATGACATCCGTGTGGGAGCTGCCATACTTGTGGATGTGGTCAATGGCATCCTGAACGTTGTCCACTACTTCAATGCATAATTCCAGGTCCCCATACTCAGTTCGGAGTGACTTCACTTCGGAGGGGCTGAAGGTCAGATAGGAGGCAAATTTGGGGCCTGCATGAATTTTTACCTGGAACAGAGGAAGTCCAGGGGCAACAACATAAAAACAACTGAAATAAGCAAGTTCTAGGATAGAACAGAAAGGTGAGCCTGTAAAACCACAGCCCAAAGTGGCTCCTGTAGCCTCAACAACTGAACTAGTCCTACTTTCCTCCCTCCAGCATGATCTGACTGGCCACTTGCCAGCAATGGGCCCTCAAGACAGTTGGAACAGGGATTGAAGCAGGAAGCCTTGAACGTTAAGGATGTGCAAGGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGACGGGTGGATAACTTGAGGTCAGGAGTTCAAAAACCAACCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAAAATTAGCAGGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGGTTCAAGCAGGAGGAGAACTGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGCACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAGAATAAAAAAGAATGTGCAAGGCGTTTAGTGGGTTATCAACACAAGGGCTTGACTTCTGGCATTTTCCTAAAATGAATACTTGACAATAAAGATCCCAGTTCCTGCATATGGTACCTAGGCACTAGACTCGTGTGGAAAAAGGGAGGTGCCACATATACATTGCTACTCCCTGTACCCTAGCGAAGTCCCAGGTTTGCTTTAGAGGTAAGCAGTACTTGGTCAGGTGCTTTCAGCACCTGAAACTGTGGCTACTCATTTGATTTCCAACTGCGTCAGTCTGGCCCCACCTCTAGGTTCAGCTCAGCCCCAGGCTCTGGCTCTAATCCTGCTGCTGGTTAGAGGAATTTAAGGATTCTGAGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTTTGCCTTGGCTCAAGTTATAAGTGGTGTCTGCCTTATCCTCATGATTCCCGAGGCCCTGCCATTGTTTCTTATCTGGGATCTCACTTCTTCTGTGTTCCTTGGGGACTGGAACCCCATCCCTGTGCAAGTCATCCTTCTAGCTTTACTTTCTGCCATCCAAAAGTGCTGTATGAAGTACACACAGTGACTCATTTTGATTTGGAATTTCAAGGCCATCCTCATTTTAATGACTGAGGATACCACTTGTGTGTTCAAATTAGGTCTGGGGAGGGATTTAGTCCTGGCTAAAGGAGAGCTTTCCTCCTGTCTAATCCAGTTCACTGTGGTGCTTGGCAAACACAGGTGCCCAATCAACAGGCTTCCTTACCAAAGTAAAGTAAGGTCCCCGAACATGAATGACCATGTGATCTAACTTCCTTGTAATCCATGGAGTACAGTTTCATTTTTAAAACAATTCTTTCCAGTTCTCACTGGGACCATGCCACATTTATAAGCTAACTGGAGCCTTCCTTTCCAGTCAAAGGATGGAAGGGAAGAGACATATGTTCAGAGTCAAAGCAACCAAGGCCAACAAGCACCTTCTCTACTGCCATGCTGGTTTATATAACTCTGAAAGTGTACTATGACATCAGAAATTAAAGCTTAAAATGCATCCATGCAGAGAGTTTAACAGATTGTCCATTTTTGCCTTGAGGGCATCTATTATATTTTCTTGCAGGCATGAATTTAGGACACAGCACAACTTTATATTTGAAACTTACTGGCTTTTGGTTTGTTTACAACCTTAACAATATAGTAAAAACATAATCCAGGGAGACATTCTACAAATTACTGAATCCCAAATATCACTGCATTAAGTACACTAATATTGGTAACCAAAGACACTGGGGGGAGGCAGTGAATGTACATAAGTTTTTGGTTTGAAACGTTTCTGCACCATCTTTTCAAATCAAATCCAAAAAATAATATA
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TTGTACTTCTGGCTGGCCTGTTTGTTTTGATGCTGGTACTTAGGCCCACGGCACCTTCTTTTGTCCTACCATTGTGGGGTTTCCTATCTCCGAGGCAACCTGGCTGTGCCATTTTGACGAAATAAGTCTGTAAAAGGAGTGCTCTCAAGGGACACAGCATGTACCTCTGGCGCAGCCTGTGTAAAAAGGCAGGCTGTGGTTGCCCACGCTGTAGCGGGAGAACCCAGGCTTTGGACTTGCTCAAGTTTGGGTCTGAATGCCAGCTGTGGGACTTTGGGCAAGTTACTATACTTCTCTGAATCTCATTCTCCCTCTTTGAAAAATGAATACAAGTACCTGCCTTCTTAGCATGTGAAATGCTTAGAAGATAGGCCTTCCACCAACTCATGGGAGGTTTCATTAATTATTCTCCCTGATAATCCTACCTTGCCAGAAGTCTGTCTCTATTTTTTTTTTTTTTTTGAGATGGTGTCTCACTCTGTCCTCCAGGCTGGAGTGCTGTAGCGTAATCTCGGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCTGTTTCTCTCTTATCTTGACCAAGCATGTGACAGTCAAGGGGAGGTGTCTTTCCCACCTCAACATACCCCTAGACCACACAGTGCTTCACAAGGAACTTCTTTCTTCCCAACCAGAGTCTTTCTTACCCAGTCCAAAGCGGTAACCATCAGAAAAGCGAGTGCTGGCATTCCAGAACACACAGGCACTGTCTACGTGCTGCAGGAAGAACTCCGCTGTGTTTTCTGCAGGGTGAAGAAGGAGAAACCAAGTTAGGATGATACCCAGAGAACATCCCTGTTTCCAGCCATTGACTGGTGACAGATCAGGGCAGGGTCTGGGTCCCCACTGGGGCCTCTCCATGTGTTCTCACGTATTAAATACTCAGGCTTATGAAAAATCTCAACAGGAAGAAGACAAGTTAGCTTCATCAATCACGGTGTTGTGGAAAGACTGAGTTGGAATCCAGATCTCCCATGCAGGTGACCTGCCTAAACTTCCTACTTATGGGCTCCAGAGCCAGACTTCCTAGGCCTGAACTCCAGCTGTACACCTGCTAGCTTTGTGACCTTCTGCAGGTGTACAAAACTCTCTGTGTCTGGGTCAAAAGGGACTTACAACATGACCTAGCTGATAGGGTTGTAGAGAGGATGAAACACCTGGGGAGTACTCATGCTAGTGCCTAGCACACAGTGAGTGCTTGGTAAATGTTGGCTGTTAATACGGGTGGTACTGCTCTGGTGCCCTAATTAGCTGACTGTAAATTCCTCATTGGGGCCCTACTGGCATCCTCCACCATTGAGGCTCCAGTATCTGACACCCAGGAGTGTCCCTGCATACATATTTGTGGAATAAATGAATGAATGAATGAATGTGCAGAGTTGGTTCTGCCTTGGTTTCCTCAGCTGTAAAATGGGTTTATTTTAACTACCTTGTAAGATTTGCTGCACGCATTAAATGATAGTGCCTCTGACAGGGTTAGTCATCTTCGAAGCAGAGCTAATCATCCCTGCCCCTCCTCCTCCAGCTGTGACAATATAATAAAGTGATGTGAAAGCACTCATCAAAGTACCAAATGCAACCACTACTAAACATTACCATAAGCCTACTCAAATGATGTTTTTCTGCAGCCCAAGGGGGGCTAAGAGGAGCAGGATCAGAAAGCAGCAAAGGCAGACACTGTATGCGGGAAGCATCTGGACACTGACCGTCCTCTGTGACGATGACATCCGTGTGGGAGCTGCCATACTTGTGGATGTGGTCAATGGCATCCTGAACGTTGTCCACTACTTCAATGCATAATTCCAGGTCCCCATACTCAGTTAGGAGTGACTTCACTTCGGAGGGGCTGAAGGTCAGATAGGAGGCAAATTTGGGGCCTGCATGAATTTTTACCTGGAACAGAGGAAGTCCAGGGGCAACAACATAAAAACAACTGAAATAAGCAAGTTCTAGGATAGAACAGAAAGGTGAGCCTGTAAAACCACAGCCCAAAGTGGCTCCTGTAGCCTCAACAACTGAACTAGTCCTACTTTCCTCCCTCCAGCATGATCTGACTGGCCACTTGCCAGCAATGGGCCCTCAAGACAGTTGGAACAGGGATTGAAGCAGGAAGCCTTGAACGTTAAGGATGTGCAAGGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGACGGGTGGATAACTTGAGGTCAGGAGTTCAAAAACCAACCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAAAATTAGCAGGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGGTTCAAGCAGGAGGAGAACTGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGCACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAGAATAAAAAAGAATGTGCAAGGCGTTTAGTGGGTTATCAACACAAGGGCTTGACTTCTGGCATTTTCCTAAAATGAATACTTGACAATAAAGATCCCAGTTCCTGCATATGGTACCTAGGCACTAGACTCGTGTGGAAAAAGGGAGGTGCCACATATACATTGCTACTCCCTGTACCCTAGCGAAGTCCCAGGTTTGCTTTAGAGGTAAGCAGTACTTGGTCAGGTGCTTTCAGCACCTGAAACTGTGGCTACTCATTTGATTTCCAACTGCGTCAGTCTGGCCCCACCTCTAGGTTCAGCTCAGCCCCAGGCTCTGGCTCTAATCCTGCTGCTGGTTAGAGGAATTTAAGGATTCTGAGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTTTGCCTTGGCTCAAGTTATAAGTGGTGTCTGCCTTATCCTCATGATTCCCGAGGCCCTGCCATTGTTTCTTATCTGGGATCTCACTTCTTCTGTGTTCCTTGGGGACTGGAACCCCATCCCTGTGCAAGTCATCCTTCTAGCTTTACTTTCTGCCATCCAAAAGTGCTGTATGAAGTACACACAGTGACTCATTTTGATTTGGAATTTCAAGGCCATCCTCATTTTAATGACTGAGGATACCACTTGTGTGTTCAAATTAGGTCTGGGGAGGGATTTAGTCCTGGCTAAAGGAGAGCTTTCCTCCTGTCTAATCCAGTTCACTGTGGTGCTTGGCAAACACAGGTGCCCAATCAACAGGCTTCCTTACCAAAGTAAAGTAAGGTCCCCGAACATGAATGACCATGTGATCTAACTTCCTTGTAATCCATGGAGTACAGTTTCATTTTTAAAACAATTCTTTCCAGTTCTCACTGGGACCATGCCACATTTATAAGCTAACTGGAGCCTTCCTTTCCAGTCAAAGGATGGAAGGGAAGAGACATATGTTCAGAGTCAAAGCAACCAAGGCCAACAAGCACCTTCTCTACTGCCATGCTGGTTTATATAACTCTGAAAGTGTACTATGACATCAGAAATTAAAGCTTAAAATGCATCCATGCAGAGAGTTTAACAGATTGTCCATTTTTGCCTTGAGGGCATCTATTATATTTTCTTGCAGGCATGAATTTAGGACACAGCACAACTTTATATTTGAAACTTACTGGCTTTTGGTTTGTTTACAACCTTAACAATATAGTAAAAACATAATCCAGGGAGACATTCTACAAATTACTGAATCCCAAATATCACTGCATTAAGTACACTAATATTGGTAACCAAAGACACTGGGGGGAGGCAGTGAATGTACATAAGTTTTTGGTTTGAAACGTTTCTGCACCATCTTTTCAAATCAAATCCAAAAAATAATATA
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Task1_train_14314
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The gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Autosomal recessive complex spastic paraplegia type 9B
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CACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGACGGGTGGATAACTTGAGGTCAGGAGTTCAAAAACCAACCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAAAATTAGCAGGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGGTTCAAGCAGGAGGAGAACTGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGCACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAGAATAAAAAAGAATGTGCAAGGCGTTTAGTGGGTTATCAACACAAGGGCTTGACTTCTGGCATTTTCCTAAAATGAATACTTGACAATAAAGATCCCAGTTCCTGCATATGGTACCTAGGCACTAGACTCGTGTGGAAAAAGGGAGGTGCCACATATACATTGCTACTCCCTGTACCCTAGCGAAGTCCCAGGTTTGCTTTAGAGGTAAGCAGTACTTGGTCAGGTGCTTTCAGCACCTGAAACTGTGGCTACTCATTTGATTTCCAACTGCGTCAGTCTGGCCCCACCTCTAGGTTCAGCTCAGCCCCAGGCTCTGGCTCTAATCCTGCTGCTGGTTAGAGGAATTTAAGGATTCTGAGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTTTGCCTTGGCTCAAGTTATAAGTGGTGTCTGCCTTATCCTCATGATTCCCGAGGCCCTGCCATTGTTTCTTATCTGGGATCTCACTTCTTCTGTGTTCCTTGGGGACTGGAACCCCATCCCTGTGCAAGTCATCCTTCTAGCTTTACTTTCTGCCATCCAAAAGTGCTGTATGAAGTACACACAGTGACTCATTTTGATTTGGAATTTCAAGGCCATCCTCATTTTAATGACTGAGGATACCACTTGTGTGTTCAAATTAGGTCTGGGGAGGGATTTAGTCCTGGCTAAAGGAGAGCTTTCCTCCTGTCTAATCCAGTTCACTGTGGTGCTTGGCAAACACAGGTGCCCAATCAACAGGCTTCCTTACCAAAGTAAAGTAAGGTCCCCGAACATGAATGACCATGTGATCTAACTTCCTTGTAATCCATGGAGTACAGTTTCATTTTTAAAACAATTCTTTCCAGTTCTCACTGGGACCATGCCACATTTATAAGCTAACTGGAGCCTTCCTTTCCAGTCAAAGGATGGAAGGGAAGAGACATATGTTCAGAGTCAAAGCAACCAAGGCCAACAAGCACCTTCTCTACTGCCATGCTGGTTTATATAACTCTGAAAGTGTACTATGACATCAGAAATTAAAGCTTAAAATGCATCCATGCAGAGAGTTTAACAGATTGTCCATTTTTGCCTTGAGGGCATCTATTATATTTTCTTGCAGGCATGAATTTAGGACACAGCACAACTTTATATTTGAAACTTACTGGCTTTTGGTTTGTTTACAACCTTAACAATATAGTAAAAACATAATCCAGGGAGACATTCTACAAATTACTGAATCCCAAATATCACTGCATTAAGTACACTAATATTGGTAACCAAAGACACTGGGGGGAGGCAGTGAATGTACATAAGTTTTTGGTTTGAAACGTTTCTGCACCATCTTTTCAAATCAAATCCAAAAAATAATATATGCTTGGGAACACCTTGCATATATAAGGTTGCCAGAAACAGTTCAGTCAGCATAGTGCCATGTGGTCTGTCTTACCTTTGAACCCTCTTTAGCACACAACACATTCCACTTTGTAATAAAGCTATTTGTGTATTGGTTTGGTTCGACTACTAGAGGGCAGGGGTTGTGTTTTACTCACACTTTACTTAGCATGGAACTTTGTACACAGAAGATATTAAAAAATATTGTTTCTTAAACTGCCTTATATGGTATGGCTGTGCCTGGTCTAATTCCACAGGCTTCTAAGACAGGAAGTAATGTACTAGTCCTATGGAACTCTTACCTGTTCCACTCTCAGCATATCAATGATCTGGTCAAATAATGGTGTCCTGAGCAGATCCCGGTGGATTAACAAAGTCTCCAAAGCATTACAGGCAGCTGGATATTCACATTTAGAGTCTCTGACTGAAAGAAGATGAGCAAAGAATTGTTTCCATTGACATGATCCAGAGCTGCAGAGGATGTAATATTTCTCCGTTGTGAAAGAGAAGACCCCATCCAGCTCACCTAGCCTGGTGACCTTATCAACACTGGCCTCGGAATCCACATACATGTGACAGATCCCTTCGCTGTGCCCCATCACTGGAATCCCCTTAGCAGCTTTCTGGATGTCTCTGACCAGCTGGGAAGAGCCACGTGGAATGATCAGATCTATCATTTTGTCTAGGCGGCAAAGATCTTCAACTTCTTCTCTGGTATTCACCTTTAGAAGGAAAGAAGAAAAAGATAAAGATGACATCTGACCACACAAAATATAAAAACAGCAGCTTCCCTTTTACAGATAAACATCTGTACACTCTGAGAACTAAGTGAGACACTGTGAAAACTTATTCTAAAAACAAAATTAAGTTCCCGATCATGGGAATCAAAAAGTTGTCCAGCAAATGCTTATCAAACACTATATACTCGGTGCTGTGCTCCACATCACATATCACGCAGGACACTGCATGCCGTCAAAGAGCTCAGCATCAAGTAGGGAAGGCAGCACTAGGGTACTGCTAGCCATAATACAGGGCAGACAATTTTTAAAATGCCAGAAGCAGCACAAAGGGGTATCTATGGAGGTTAAATGCAGTACACTACTCCAGGCCATGAAGATCACAAAAGGGAGTGGCTTCTCTGTTGGTTTTCTATTCACAGCATTGAGGAAATGTTGGGTTGGTCTTGCTAGGGAGTCATGGTTCTCATGACTTCTGATGGCAACTTCTACCCTGGGATGTGGATTAGAATGACTTAAAGAGCCTGTGAGAGGATACTGAGATTATGGGCATTTTGTTTTCTCTTGATTTTTAATTTTTCTCCACATGGTCATATTACTTTTATAACAAATATATATGTGTGCCAGAATGTTCACAGCAACTTTATTCCACATAGCCCAAAACTGGAAACAATCTAAATATTCATCAAGAGAAGAAAAGATGAACTGTAGTATATGCAGGTAAATGGAACACTACCCAGCAATTAAATGAGAAAACTACTGCTAGATGCAACAATGGGAATGAATGCCACAGACATAACGAACAAATGACAGGCAACATAAACGTGTGTTTTGTTTGATCTCATTTATATAAATTTCAAGAATAGGCAAAAGGCAGGGCGTGGTGGCACATTCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATTGCCTGAGCTCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAACAAAAAATCCACAAAAGTTAGTCAGGTCTGGAGGCACACACCTGTAGTCCCAACTACTAGGAAAGCTGAGGTGGGTGGACTGCTTGAGCCTAGGAGGCTGAGGCTGCAGTGAGCCGAGAGCCAAGATTGTGCCACTGAATTCCAGTCTGGGCAACAGAGCAAGACCATGTCTCAAAAAAAAAAAAAAAGGCAAAAGTAATTTAATGTGACAGAAGTCAAAAAAGTAGTTTGTGGGGAAGGGGGCTACATATTGACTGGGAAGGGCACAAGGGGGCCCTCCAGGATGTTGGACTGTTCTGTATCTTGATACGGCTGGTGGTTATACATGTGTGTGTGTGAACAGTCGCAGAGTGGTTCACAGGATCTGTATACTTTACTGTACGTATGTTACACATCAATAGGAAGAAAAGGAGGGAGGGCACCTGTGTAAGCTAGGAAGTGGTGGGGCTGGGATTTGAATCCCTAAAATCTGCGCTCTTTCCAACCACTATGTGGGCATAAGAAAAAAACCAGATTCTGGTCACTGAGTGTGTAATGAGCAGGTTTGTAGACATCCTCCCAGTAGCCAACAGAATCCTGGAATGTTGGAGCAAATGAGCCAAAGAAAAAAAAGGATCTGGAGTCAGCCTAGGTCCAA
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CACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGACGGGTGGATAACTTGAGGTCAGGAGTTCAAAAACCAACCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAAAATTAGCAGGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGGTTCAAGCAGGAGGAGAACTGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGCACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAGAATAAAAAAGAATGTGCAAGGCGTTTAGTGGGTTATCAACACAAGGGCTTGACTTCTGGCATTTTCCTAAAATGAATACTTGACAATAAAGATCCCAGTTCCTGCATATGGTACCTAGGCACTAGACTCGTGTGGAAAAAGGGAGGTGCCACATATACATTGCTACTCCCTGTACCCTAGCGAAGTCCCAGGTTTGCTTTAGAGGTAAGCAGTACTTGGTCAGGTGCTTTCAGCACCTGAAACTGTGGCTACTCATTTGATTTCCAACTGCGTCAGTCTGGCCCCACCTCTAGGTTCAGCTCAGCCCCAGGCTCTGGCTCTAATCCTGCTGCTGGTTAGAGGAATTTAAGGATTCTGAGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTTTGCCTTGGCTCAAGTTATAAGTGGTGTCTGCCTTATCCTCATGATTCCCGAGGCCCTGCCATTGTTTCTTATCTGGGATCTCACTTCTTCTGTGTTCCTTGGGGACTGGAACCCCATCCCTGTGCAAGTCATCCTTCTAGCTTTACTTTCTGCCATCCAAAAGTGCTGTATGAAGTACACACAGTGACTCATTTTGATTTGGAATTTCAAGGCCATCCTCATTTTAATGACTGAGGATACCACTTGTGTGTTCAAATTAGGTCTGGGGAGGGATTTAGTCCTGGCTAAAGGAGAGCTTTCCTCCTGTCTAATCCAGTTCACTGTGGTGCTTGGCAAACACAGGTGCCCAATCAACAGGCTTCCTTACCAAAGTAAAGTAAGGTCCCCGAACATGAATGACCATGTGATCTAACTTCCTTGTAATCCATGGAGTACAGTTTCATTTTTAAAACAATTCTTTCCAGTTCTCACTGGGACCATGCCACATTTATAAGCTAACTGGAGCCTTCCTTTCCAGTCAAAGGATGGAAGGGAAGAGACATATGTTCAGAGTCAAAGCAACCAAGGCCAACAAGCACCTTCTCTACTGCCATGCTGGTTTATATAACTCTGAAAGTGTACTATGACATCAGAAATTAAAGCTTAAAATGCATCCATGCAGAGAGTTTAACAGATTGTCCATTTTTGCCTTGAGGGCATCTATTATATTTTCTTGCAGGCATGAATTTAGGACACAGCACAACTTTATATTTGAAACTTACTGGCTTTTGGTTTGTTTACAACCTTAACAATATAGTAAAAACATAATCCAGGGAGACATTCTACAAATTACTGAATCCCAAATATCACTGCATTAAGTACACTAATATTGGTAACCAAAGACACTGGGGGGAGGCAGTGAATGTACATAAGTTTTTGGTTTGAAACGTTTCTGCACCATCTTTTCAAATCAAATCCAAAAAATAATATATGCTTGGGAACACCTTGCATATATAAGGTTGCCAGAAACAGTTCAGTCAGCATAGTGCCATGTGGTCTGTCTTACCTTTGAACCCTCTTTAGCACACAACACATTCCACTTTGTAATAAAGCTATTTGTGTATTGGTTTGGTTCGACTACTAGAGGGCAGGGGTTGTGTTTTACTCACACTTTACTTAGCATGGAACTTTGTACACAGAAGATATTAAAAAATATTGTTTCTTAAACTGCCTTATATGGTATGGCTGTGCCTGGTCTAATTCCACAGGCTTCTAAGACAGGAAGTAATGTACTAGTCCTATGGAACTCTTACCTGTTCCACTCTCGGCATATCAATGATCTGGTCAAATAATGGTGTCCTGAGCAGATCCCGGTGGATTAACAAAGTCTCCAAAGCATTACAGGCAGCTGGATATTCACATTTAGAGTCTCTGACTGAAAGAAGATGAGCAAAGAATTGTTTCCATTGACATGATCCAGAGCTGCAGAGGATGTAATATTTCTCCGTTGTGAAAGAGAAGACCCCATCCAGCTCACCTAGCCTGGTGACCTTATCAACACTGGCCTCGGAATCCACATACATGTGACAGATCCCTTCGCTGTGCCCCATCACTGGAATCCCCTTAGCAGCTTTCTGGATGTCTCTGACCAGCTGGGAAGAGCCACGTGGAATGATCAGATCTATCATTTTGTCTAGGCGGCAAAGATCTTCAACTTCTTCTCTGGTATTCACCTTTAGAAGGAAAGAAGAAAAAGATAAAGATGACATCTGACCACACAAAATATAAAAACAGCAGCTTCCCTTTTACAGATAAACATCTGTACACTCTGAGAACTAAGTGAGACACTGTGAAAACTTATTCTAAAAACAAAATTAAGTTCCCGATCATGGGAATCAAAAAGTTGTCCAGCAAATGCTTATCAAACACTATATACTCGGTGCTGTGCTCCACATCACATATCACGCAGGACACTGCATGCCGTCAAAGAGCTCAGCATCAAGTAGGGAAGGCAGCACTAGGGTACTGCTAGCCATAATACAGGGCAGACAATTTTTAAAATGCCAGAAGCAGCACAAAGGGGTATCTATGGAGGTTAAATGCAGTACACTACTCCAGGCCATGAAGATCACAAAAGGGAGTGGCTTCTCTGTTGGTTTTCTATTCACAGCATTGAGGAAATGTTGGGTTGGTCTTGCTAGGGAGTCATGGTTCTCATGACTTCTGATGGCAACTTCTACCCTGGGATGTGGATTAGAATGACTTAAAGAGCCTGTGAGAGGATACTGAGATTATGGGCATTTTGTTTTCTCTTGATTTTTAATTTTTCTCCACATGGTCATATTACTTTTATAACAAATATATATGTGTGCCAGAATGTTCACAGCAACTTTATTCCACATAGCCCAAAACTGGAAACAATCTAAATATTCATCAAGAGAAGAAAAGATGAACTGTAGTATATGCAGGTAAATGGAACACTACCCAGCAATTAAATGAGAAAACTACTGCTAGATGCAACAATGGGAATGAATGCCACAGACATAACGAACAAATGACAGGCAACATAAACGTGTGTTTTGTTTGATCTCATTTATATAAATTTCAAGAATAGGCAAAAGGCAGGGCGTGGTGGCACATTCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATTGCCTGAGCTCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAACAAAAAATCCACAAAAGTTAGTCAGGTCTGGAGGCACACACCTGTAGTCCCAACTACTAGGAAAGCTGAGGTGGGTGGACTGCTTGAGCCTAGGAGGCTGAGGCTGCAGTGAGCCGAGAGCCAAGATTGTGCCACTGAATTCCAGTCTGGGCAACAGAGCAAGACCATGTCTCAAAAAAAAAAAAAAAGGCAAAAGTAATTTAATGTGACAGAAGTCAAAAAAGTAGTTTGTGGGGAAGGGGGCTACATATTGACTGGGAAGGGCACAAGGGGGCCCTCCAGGATGTTGGACTGTTCTGTATCTTGATACGGCTGGTGGTTATACATGTGTGTGTGTGAACAGTCGCAGAGTGGTTCACAGGATCTGTATACTTTACTGTACGTATGTTACACATCAATAGGAAGAAAAGGAGGGAGGGCACCTGTGTAAGCTAGGAAGTGGTGGGGCTGGGATTTGAATCCCTAAAATCTGCGCTCTTTCCAACCACTATGTGGGCATAAGAAAAAAACCAGATTCTGGTCACTGAGTGTGTAATGAGCAGGTTTGTAGACATCCTCCCAGTAGCCAACAGAATCCTGGAATGTTGGAGCAAATGAGCCAAAGAAAAAAAAGGATCTGGAGTCAGCCTAGGTCCAA
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Task1_train_14315
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The following genetic variant occurs in ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; ALDH18A1-related de Barsy syndrome
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ACACTACTCCAGGCCATGAAGATCACAAAAGGGAGTGGCTTCTCTGTTGGTTTTCTATTCACAGCATTGAGGAAATGTTGGGTTGGTCTTGCTAGGGAGTCATGGTTCTCATGACTTCTGATGGCAACTTCTACCCTGGGATGTGGATTAGAATGACTTAAAGAGCCTGTGAGAGGATACTGAGATTATGGGCATTTTGTTTTCTCTTGATTTTTAATTTTTCTCCACATGGTCATATTACTTTTATAACAAATATATATGTGTGCCAGAATGTTCACAGCAACTTTATTCCACATAGCCCAAAACTGGAAACAATCTAAATATTCATCAAGAGAAGAAAAGATGAACTGTAGTATATGCAGGTAAATGGAACACTACCCAGCAATTAAATGAGAAAACTACTGCTAGATGCAACAATGGGAATGAATGCCACAGACATAACGAACAAATGACAGGCAACATAAACGTGTGTTTTGTTTGATCTCATTTATATAAATTTCAAGAATAGGCAAAAGGCAGGGCGTGGTGGCACATTCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATTGCCTGAGCTCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAACAAAAAATCCACAAAAGTTAGTCAGGTCTGGAGGCACACACCTGTAGTCCCAACTACTAGGAAAGCTGAGGTGGGTGGACTGCTTGAGCCTAGGAGGCTGAGGCTGCAGTGAGCCGAGAGCCAAGATTGTGCCACTGAATTCCAGTCTGGGCAACAGAGCAAGACCATGTCTCAAAAAAAAAAAAAAAGGCAAAAGTAATTTAATGTGACAGAAGTCAAAAAAGTAGTTTGTGGGGAAGGGGGCTACATATTGACTGGGAAGGGCACAAGGGGGCCCTCCAGGATGTTGGACTGTTCTGTATCTTGATACGGCTGGTGGTTATACATGTGTGTGTGTGAACAGTCGCAGAGTGGTTCACAGGATCTGTATACTTTACTGTACGTATGTTACACATCAATAGGAAGAAAAGGAGGGAGGGCACCTGTGTAAGCTAGGAAGTGGTGGGGCTGGGATTTGAATCCCTAAAATCTGCGCTCTTTCCAACCACTATGTGGGCATAAGAAAAAAACCAGATTCTGGTCACTGAGTGTGTAATGAGCAGGTTTGTAGACATCCTCCCAGTAGCCAACAGAATCCTGGAATGTTGGAGCAAATGAGCCAAAGAAAAAAAAGGATCTGGAGTCAGCCTAGGTCCAAATCTAAACTCTATCACACACCATGTGACTCTTGGGGAATTACTTTACCTCTGAATCTGTTTTTTCCCAATGTAGAAAATGAGTCTAATAATTAATGATATTTTCCTTATGGGACTGCTGTGACGATCAAATGAGTTAACGGATAAAATGAGCCTTGCACATAGTAGGTACTCAACAAGTAGTAGCTATTATTATCAAACTTCATTTGACAGTTGAGGAGAATGAGAAATGGTCAGTTAAAGTGATGACCTTAATAATAATAGTGATAACAGCATGATCTCATACTCAACACACCGCATGACAGTTTATGACAAACTTTTGTAAAGTTTCTCATCTGACTTACCCTAGATCACTCTGCCAATGACAGGAACCTAGGCCTCACACTCTAGTTCTGGTACTCCTGCTGCCTTGTGACCCAAAGAATGAAGGTCTAATTGACATTCTTGTAAATAAATAGTGCCAAGACGCAGCTGTAAGGGAGGGGCCTTCCTAAGCCACTGAGGACCCATCTGGCTCTGCAGAATGGCCTAAAGTCTGAAGGCTCACAGGCCTGCTGGAGTGTCAAGTCTGCTTGTAGTAGTGTCTTGGCTCTGTGTGGCCTAAGTTTTGCTTTAAATTCCCAAACACCTGATCTGGCCCCTCTGGGCCTGACTTGGTGCATTCCCAGGGACCTACCAGTTGCACGGCCTCCTTGACTCCATGGATTGAGAGAGCCTCCTGGGTCAGGAGGTGGAGAATCCGGTTGCTGTGTGCAGCCTCCTTCCCTCCTTTGAGTAACAAGCCATTGCCACTTGCGATAGCCAAAGCTGCCACCTGCAGATCAAAGGGAGAGCAGTGGATCAAAGGAGACAAACAGTAATAGCAACAGTGATGTTAGCATTCACAAGCACTCCTTCTGTGCTAAGCACTGTGTTCATCATTTTAGAAGGCCTATGCTGTTTCATCTTCACAACACTGCAGTGAATTAAGTGCCTGTTTTATCCCCTACTTTACAGATAAGGGCACTGAAGCCCAGAGAGGCTGATGACTCCCCGAAGTCACACAGCTTATAAATAACAGGGATGGGAGCCAGACTGAGGTGGTTTGACTCCAGAACAAACCACTGGATTTTAGCAACTAAACTATATGGCTTCCTTAGCACCATTAGCAAAGAGAACTGAGTTGGCCAGGTATGGTGGCTCACGCCTGTAATCTCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGATACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTATAAATACAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAAGAGACTTTCTTGAGCCTGGGAGGCGGAGGCTGCAGTCAGCCGAGATTGCACCACTTCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAACAAACAAATAAAGCAAAGAGAACTGAGTTAAGTGGCCAGGGCCACATGGCACCCCCCACCGTGGAGAACAGGGTCTTCAGCCACCTCTGTAAGGAAGCACTTGCTTCATCTGATCAGGCTGAGGCTGGGCAGCTCCTCTGGCCACATCCTACTCTGGCCTTGGAATTGTTCTGAGAGCTCTAAGTGCTTGGTGCTAAGAACCTGGAGAAGACCAGAGCTCCTGCCAGCCCCTGGGCAGCTGTGGTAGAGACTGCTGAGAACAGAGTCTTTTTCCCACATGCCTGTCTGGGGAGGAAAACGTAAACCATCCAGGAGGAGGGCTAGTTGCCTTGTTAGAGCAAAGAGTGAGTGACACTGACCTGATCATCCTACCTCTTACAAAAGTTAAGTAAACTTTCTCCAGACATAAACACACAGAATATTGCACACAATTTTTAGGATTCATGGATTCTGTGAAACCATCCAGGGCTGAGTCCAGATGAGGAGCCTTAGCTGTAGTTAGCTAATGAGGTATCAGCTCCTTGTGAGGTATCAGCTGGTATGGATGAGTGGTAGCAAAGAAATTTCACGGATACAGTCCACAGAGAGACTTAGGCCCATTTCTACTAGCAGAGGTGAGTCTGGCAGTCATCACTGGGGCATTTCTGCAAGACAGGTATGTGGCCAGAGAGGTAGTGTGCCAGCATCAGCCAGGGACTGAGGATAGGCCTCAGTGGTATGGGAGTCCCTTGGTGAACACACTGGTTTTAGGGGATGTCAGAGAGTACCCTTCACAGAGCATTCCAGATTCCACAGTCAACTATGTCTTATAGTAAAGAGGTGCTAGTTTTTTGTTTTTACAGTAGAATTTCCCTTTGAGACTTTGGGGCTAGTGCAAAGGAAGAGCTGGTATCCTATAGGACAGTCCAGTGGGGGAAATGCTCCCAGAATTCTGGGAGGCAGTTTAGGGTAATAAAGTGGGGCCACTCTCTAATGACACCTTGTATTTCCCAGCATGGCTGCTTGGCAAGAACTTTAACGCATGCTTTCTCAACCAGAGGCTGTGATATGTCAACTTGCTTAAAGAGGGTTGCATTCTTTTCTCTTTTTTGAGATGGTATCTCGCCCTGTTGCAAGGCTGGAATGCAGTGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCCCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTCCCACCATGCCAACTAATTTTGTATTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATTCACCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCCTGGCCGACAGTTGCATTCTAAT
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ACACTACTCCAGGCCATGAAGATCACAAAAGGGAGTGGCTTCTCTGTTGGTTTTCTATTCACAGCATTGAGGAAATGTTGGGTTGGTCTTGCTAGGGAGTCATGGTTCTCATGACTTCTGATGGCAACTTCTACCCTGGGATGTGGATTAGAATGACTTAAAGAGCCTGTGAGAGGATACTGAGATTATGGGCATTTTGTTTTCTCTTGATTTTTAATTTTTCTCCACATGGTCATATTACTTTTATAACAAATATATATGTGTGCCAGAATGTTCACAGCAACTTTATTCCACATAGCCCAAAACTGGAAACAATCTAAATATTCATCAAGAGAAGAAAAGATGAACTGTAGTATATGCAGGTAAATGGAACACTACCCAGCAATTAAATGAGAAAACTACTGCTAGATGCAACAATGGGAATGAATGCCACAGACATAACGAACAAATGACAGGCAACATAAACGTGTGTTTTGTTTGATCTCATTTATATAAATTTCAAGAATAGGCAAAAGGCAGGGCGTGGTGGCACATTCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATTGCCTGAGCTCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAACAAAAAATCCACAAAAGTTAGTCAGGTCTGGAGGCACACACCTGTAGTCCCAACTACTAGGAAAGCTGAGGTGGGTGGACTGCTTGAGCCTAGGAGGCTGAGGCTGCAGTGAGCCGAGAGCCAAGATTGTGCCACTGAATTCCAGTCTGGGCAACAGAGCAAGACCATGTCTCAAAAAAAAAAAAAAAGGCAAAAGTAATTTAATGTGACAGAAGTCAAAAAAGTAGTTTGTGGGGAAGGGGGCTACATATTGACTGGGAAGGGCACAAGGGGGCCCTCCAGGATGTTGGACTGTTCTGTATCTTGATACGGCTGGTGGTTATACATGTGTGTGTGTGAACAGTCGCAGAGTGGTTCACAGGATCTGTATACTTTACTGTACGTATGTTACACATCAATAGGAAGAAAAGGAGGGAGGGCACCTGTGTAAGCTAGGAAGTGGTGGGGCTGGGATTTGAATCCCTAAAATCTGCGCTCTTTCCAACCACTATGTGGGCATAAGAAAAAAACCAGATTCTGGTCACTGAGTGTGTAATGAGCAGGTTTGTAGACATCCTCCCAGTAGCCAACAGAATCCTGGAATGTTGGAGCAAATGAGCCAAAGAAAAAAAAGGATCTGGAGTCAGCCTAGGTCCAAATCTAAACTCTATCACACACCATGTGACTCTTGGGGAATTACTTTACCTCTGAATCTGTTTTTTCCCAATGTAGAAAATGAGTCTAATAATTAATGATATTTTCCTTATGGGACTGCTGTGACGATCAAATGAGTTAACGGATAAAATGAGCCTTGCACATAGTAGGTACTCAACAAGTAGTAGCTATTATTATCAAACTTCATTTGACAGTTGAGGAGAATGAGAAATGGTCAGTTAAAGTGATGACCTTAATAATAATAGTGATAACAGCATGATCTCATACTCAACACACCGCATGACAGTTTATGACAAACTTTTGTAAAGTTTCTCATCTGACTTACCCTAGATCACTCTGCCAATGACAGGAACCTAGGCCTCACACTCTAGTTCTGGTACTCCTGCTGCCTTGTGACCCAAAGAATGAAGGTCTAATTGACATTCTTGTAAATAAATAGTGCCAAGACGCAGCTGTAAGGGAGGGGCCTTCCTAAGCCACTGAGGACCCATCTGGCTCTGCAGAATGGCCTAAAGTCTGAAGGCTCACAGGCCTGCTGGAGTGTCAAGTCTGCTTGTAGTAGTGTCTTGGCTCTGTGTGGCCTAAGTTTTGCTTTAAATTCCCAAACACCTGATCTGGCCCCTCTGGGCCTGACTTGGTGCATTCCCAGGGACCTACCAGTTGCACGGCCTCCTTGACTCCATGGATTGAGAGAGCCTCCTGGGTCAGGAGGTGGAGAATCCGGTTGCTGTGTGCAGCCTCCTTCCCTCCTTTGAGTAACAAGACATTGCCACTTGCGATAGCCAAAGCTGCCACCTGCAGATCAAAGGGAGAGCAGTGGATCAAAGGAGACAAACAGTAATAGCAACAGTGATGTTAGCATTCACAAGCACTCCTTCTGTGCTAAGCACTGTGTTCATCATTTTAGAAGGCCTATGCTGTTTCATCTTCACAACACTGCAGTGAATTAAGTGCCTGTTTTATCCCCTACTTTACAGATAAGGGCACTGAAGCCCAGAGAGGCTGATGACTCCCCGAAGTCACACAGCTTATAAATAACAGGGATGGGAGCCAGACTGAGGTGGTTTGACTCCAGAACAAACCACTGGATTTTAGCAACTAAACTATATGGCTTCCTTAGCACCATTAGCAAAGAGAACTGAGTTGGCCAGGTATGGTGGCTCACGCCTGTAATCTCAGCAATTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGATACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTATAAATACAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAAGAGACTTTCTTGAGCCTGGGAGGCGGAGGCTGCAGTCAGCCGAGATTGCACCACTTCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCGCAAACAAACAAATAAAGCAAAGAGAACTGAGTTAAGTGGCCAGGGCCACATGGCACCCCCCACCGTGGAGAACAGGGTCTTCAGCCACCTCTGTAAGGAAGCACTTGCTTCATCTGATCAGGCTGAGGCTGGGCAGCTCCTCTGGCCACATCCTACTCTGGCCTTGGAATTGTTCTGAGAGCTCTAAGTGCTTGGTGCTAAGAACCTGGAGAAGACCAGAGCTCCTGCCAGCCCCTGGGCAGCTGTGGTAGAGACTGCTGAGAACAGAGTCTTTTTCCCACATGCCTGTCTGGGGAGGAAAACGTAAACCATCCAGGAGGAGGGCTAGTTGCCTTGTTAGAGCAAAGAGTGAGTGACACTGACCTGATCATCCTACCTCTTACAAAAGTTAAGTAAACTTTCTCCAGACATAAACACACAGAATATTGCACACAATTTTTAGGATTCATGGATTCTGTGAAACCATCCAGGGCTGAGTCCAGATGAGGAGCCTTAGCTGTAGTTAGCTAATGAGGTATCAGCTCCTTGTGAGGTATCAGCTGGTATGGATGAGTGGTAGCAAAGAAATTTCACGGATACAGTCCACAGAGAGACTTAGGCCCATTTCTACTAGCAGAGGTGAGTCTGGCAGTCATCACTGGGGCATTTCTGCAAGACAGGTATGTGGCCAGAGAGGTAGTGTGCCAGCATCAGCCAGGGACTGAGGATAGGCCTCAGTGGTATGGGAGTCCCTTGGTGAACACACTGGTTTTAGGGGATGTCAGAGAGTACCCTTCACAGAGCATTCCAGATTCCACAGTCAACTATGTCTTATAGTAAAGAGGTGCTAGTTTTTTGTTTTTACAGTAGAATTTCCCTTTGAGACTTTGGGGCTAGTGCAAAGGAAGAGCTGGTATCCTATAGGACAGTCCAGTGGGGGAAATGCTCCCAGAATTCTGGGAGGCAGTTTAGGGTAATAAAGTGGGGCCACTCTCTAATGACACCTTGTATTTCCCAGCATGGCTGCTTGGCAAGAACTTTAACGCATGCTTTCTCAACCAGAGGCTGTGATATGTCAACTTGCTTAAAGAGGGTTGCATTCTTTTCTCTTTTTTGAGATGGTATCTCGCCCTGTTGCAAGGCTGGAATGCAGTGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCCCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTCCCACCATGCCAACTAATTTTGTATTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATTCACCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCCTGGCCGACAGTTGCATTCTAAT
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Task1_train_14316
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Gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; P5CS deficiency
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AACAGAGAACAGGTCCTGCCATGTTAACCTGCCTTGATGTGGGCTGGGAATTAAGTAGAGGTTTTCTAACCTTCTGGGAGTGTTAACAGGGGACTTTTGGAATCCTAGATTTTGGACACAGCTACTATATTTCTTATGGGTCAGACTGTGAAATGGAAATAGCTTAAGAAAGCTTGAGAGGAGTGAATGGAAAGACATATTAGAGCCAAGAGTGGCCCCTCCAGGAAGAAGGGAACAGCAGAGAAGAACAGAGTAACATATAAGAATATGGTACCCAGATAGCCTAGACTTCTACAGTGGCTCCAACTTAAAACAATCTGTCCCAACAAAGGAAAAACAAAAACAAAAAAAATCCACAATCTGTCCCATGGTTTACATTAAAAACTGAAAGTAATCAAAACCACAGTAAGATATTACTTCACACCCATTAGGATGGCTATAATAAAAAAGGCAGATAAAAACAACTGAATAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCCAAATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTGGAGGTTGCGGTGAGCCGATATTGTGCCACTACACTCCTGCCTGGGTGACAGGATAAGGCTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAACAACTGAATAACAGCAATGATGTAAACACATTAGAACCTTCATACAATGCTGGTGAGAATGTGAAATGGTACAAGGGGCCTTACTTTGGAAAACAGTCTAGTAGCTCCTCAAAAGTCTTTTAAACAGAGTTACCATATGACCCTGCAATTCCACTCTTAGATGAAATAAAAACATGTTCACACAAAAACGTGTCATGAATGTTCACAGCTAATGTCCATCAATAGATGAACTGATAAATAAAACATGGTACATCCACAGAGTGGAATATTATTCAGCAATAAAAACAAATGAAGTATTGATACATGCTGTAAAATGGATGAACCTTGAAAACATGCTAAGTGAAAAAAGCCGGTCACAAAGGGCCACCATAGTATATGATGCCATTTAAATAAAATTTCCAGAACAGGTTAATCCATAGAAACAGAAAATATACTGGAGACTGCCTAGGGATGGGGAGTTTGGGTAGAAGTGGGGAGTGACTGCTAATGGTTATGGAATTTCTTATTTGGGTGATGAAAGGGAAAGTGTTCTACAAATGACTGTGGTTTTGGTTGCACAATTATGTGAATATACTAAAAATCACTGAATTGTAAACTTTTATTTATTTATTTATTTTTGAGATAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATAACAGCTCACTGCAGCCTGGAACTCCCAGCTCCAAGTGAACCTTCTGCTTCAGCCCCGAGTAGCTGGAACCGCAGGCGCATACCACCATGTCCAGCTGACTTTTCTATTTTTTGTAGAAACAGGGACTCACTATATTACCCAGGTTGATCTTGAATTCCTGGGCTCAAGTGATCCTCCCGCTTTGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACCACGCCAGGACAGAATTGTAAACTTCAAATAAGTGAATTGTATGGTATGTGAATTACATCTCCATAAAGCTGTTATTTAAGGAAAACAACTGAAAGCACCTGGAAGTAACATTTCAGGATTCAAATGACATCTCTTAGACTCACCCACCCTGTTTTGAGTCATAAAAGCCCTTTGTCAGAACATATGGCTAATGATCTATAGCAAAAAAACATCAGAGGGACTCAAAGAAAGAGGGAAACTCATGTGCTCACATATGTAGCATTTAAAACAAAGGGCAGATAAAGGAAAAAAGCATTACTTTGTACCTTCTACATCTGAAAGAACAATCAAGAGATCAGTTTTCATTTCCACAGCCAGTCGGGCAGCCAGGCTATCATTATCTTTAACACTAATAACCTAGAATGCAGATTAAAAAGTCATAAGTGAGTGAGCTAAGCAGTCCAAAAAGAAATTCATGGAAGAACACAGCCAAGCTCAGGCAAAACCAAGCTAGGATCAGGCAAAACCAATGAACCCAAATATGTAGATGACGGCTCTTGCAGGCCCCTTCTGTCTGCAGAACACACTGTCTACTGGCAATCCTTTTTCCAAACATGCAGTCTTCTAGCCACTGAAATATACAAGCCATGCTCATCGCACCATCTTCAGTGACTATAGCACCTCACCCTGTTGAATGCAACCACGAGTTCAGAAGAGCTTATGCAGTCACTGCTCCATGACAAGTTTCTCTCACAACTTTTCCATCTTGTTTATGCCAAACTTCTGGTGTTAGTGCATGCAGCATAGCATGGTGTTAGTGTCTCCAGCATGCTAAACCCTTAGAAATACTTTACCCACATTTACCCCCTGCAGGTCACTGTTGGGCTCAGCTGGGGGGACAACAGCATCATTTGTGTTGACAATGGGGACAATGTTCATTCTAAGGAGTTCATGAAGTGTTCCATTGAGGTTCCGGCGCTTCTGCTCATCATGGAAATCCAAATTGGTCACCAAAATCTAAAAGGATTAAATAGATGGAAAATGCATGAGGGAGAAAAACGCTAAACTTCCCAGTATACAAAAGACGCTAAGAGCAGGGGAGTTAAACTTTAGGTTTCTGGGGCCCCACACAGATTAGAAGATTAGAATGAAATACACATATCTGGGTGCTATCCAATTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCGCTCAGGCCGTAATGCAGTGGCATAATGTCTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCTTTCCAAGTAGCTAGGATTACAGGCACACGCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATGGGATTACAGGTGTGATCCACTGCACCTGGCCCCAATTTTTGTAGAGATAAAAAAAATTACAATAATCTGAAAGATTTATTTAAGAATGTTCAAGACTTCTTGCAAAAGTACTTTAATCCTCAAAGAGCTACCAAATTCCAAAATCTCATCCATTTACAAAATTAAGAAAATTAATGTATCTATTTTAGAGGGATACTGGGGGAATCAGTGATTATCCATTAATTTCTTTTCTTTTTTTATAGAGAGGGTCTTACTCTGTTGTCCACGCTGGACTTGAACTCCTACTCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTAAAGATGCACACCGCTGTGCCCCAGCAATTTCTAAAATATCTCTGTATTCTAGGATCTGATTCAGGGCCTGGCCATAGTAGGCCCTTAAATATTTGGTGAGTGAGTGAAAGTGTATTAGACAAAATGGAATAGGGCTGTGTTGTCACTGCTCTTGCTCTAAAGCAGACTATTACTGGAGTTAACTAAGATTGTGTGTGAGCATGTGGGGTTAGTCTGAGAAATTTATGGAAGTTAGTCTTTGGTCACAAGCTGAAAGGGGGGCAGAACACAACTTGGTTCAAGGGAGGAGATGAGCATAAGGTGCTCAAAGGTAGAATGGAGAGCTGGTGTGTGGGCTGGTAAACAGCTCTGCTTTCTAGCTTAAATCAGAATTTTATGCAATGTTTAGGAGAAAAAGATAAATGGGTGAATGGAGATAGCAAGAAACTAAATGGCAACAAACCTTGAGGCTCAACAATAAATAATGCAATCTCTCTAATGTTTACGGAAGAGCGTTCTTGCTGTGTAGGGCAGGATGAGGTAGGGAAAGCTGGAAGCAAATAGTAAAGAAAGCAGGCACTGAAACAGTCAAAGTGAGGATGGTTAAGGGTCTGGCTATGGTAACTGAGAAGAATATAGCAATAAAACAGTAGCCTTAATGGTATATAAAACACAGGAAACATACATATAGAAAAATAATTCACTCACTCGATAAAAAATTTGTTGAGTA
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AACAGAGAACAGGTCCTGCCATGTTAACCTGCCTTGATGTGGGCTGGGAATTAAGTAGAGGTTTTCTAACCTTCTGGGAGTGTTAACAGGGGACTTTTGGAATCCTAGATTTTGGACACAGCTACTATATTTCTTATGGGTCAGACTGTGAAATGGAAATAGCTTAAGAAAGCTTGAGAGGAGTGAATGGAAAGACATATTAGAGCCAAGAGTGGCCCCTCCAGGAAGAAGGGAACAGCAGAGAAGAACAGAGTAACATATAAGAATATGGTACCCAGATAGCCTAGACTTCTACAGTGGCTCCAACTTAAAACAATCTGTCCCAACAAAGGAAAAACAAAAACAAAAAAAATCCACAATCTGTCCCATGGTTTACATTAAAAACTGAAAGTAATCAAAACCACAGTAAGATATTACTTCACACCCATTAGGATGGCTATAATAAAAAAGGCAGATAAAAACAACTGAATAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCCAAATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTATAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTGGAGGTTGCGGTGAGCCGATATTGTGCCACTACACTCCTGCCTGGGTGACAGGATAAGGCTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAACAACTGAATAACAGCAATGATGTAAACACATTAGAACCTTCATACAATGCTGGTGAGAATGTGAAATGGTACAAGGGGCCTTACTTTGGAAAACAGTCTAGTAGCTCCTCAAAAGTCTTTTAAACAGAGTTACCATATGACCCTGCAATTCCACTCTTAGATGAAATAAAAACATGTTCACACAAAAACGTGTCATGAATGTTCACAGCTAATGTCCATCAATAGATGAACTGATAAATAAAACATGGTACATCCACAGAGTGGAATATTATTCAGCAATAAAAACAAATGAAGTATTGATACATGCTGTAAAATGGATGAACCTTGAAAACATGCTAAGTGAAAAAAGCCGGTCACAAAGGGCCACCATAGTATATGATGCCATTTAAATAAAATTTCCAGAACAGGTTAATCCATAGAAACAGAAAATATACTGGAGACTGCCTAGGGATGGGGAGTTTGGGTAGAAGTGGGGAGTGACTGCTAATGGTTATGGAATTTCTTATTTGGGTGATGAAAGGGAAAGTGTTCTACAAATGACTGTGGTTTTGGTTGCACAATTATGTGAATATACTAAAAATCACTGAATTGTAAACTTTTATTTATTTATTTATTTTTGAGATAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATAACAGCTCACTGCAGCCTGGAACTCCCAGCTCCAAGTGAACCTTCTGCTTCAGCCCCGAGTAGCTGGAACCGCAGGCGCATACCACCATGTCCAGCTGACTTTTCTATTTTTTGTAGAAACAGGGACTCACTATATTACCCAGGTTGATCTTGAATTCCTGGGCTCAAGTGATCCTCCCGCTTTGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACCACGCCAGGACAGAATTGTAAACTTCAAATAAGTGAATTGTATGGTATGTGAATTACATCTCCATAAAGCTGTTATTTAAGGAAAACAACTGAAAGCACCTGGAAGTAACATTTCAGGATTCAAATGACATCTCTTAGACTCACCCACCCTGTTTTGAGTCATAAAAGCCCTTTGTCAGAACATATGGCTAATGATCTATAGCAAAAAAACATCAGAGGGACTCAAAGAAAGAGGGAAACTCATGTGCTCACATATGTAGCATTTAAAACAAAGGGCAGATAAAGGAAAAAAGCATTACTTTGTACCTTCTACATCTGAAAGAACAATCAAGAGATCAGTTTTCATTTCCACAGCCAGTCGGGCAGCCAGGCTATCATTATCTTTAAGACTAATAACCTAGAATGCAGATTAAAAAGTCATAAGTGAGTGAGCTAAGCAGTCCAAAAAGAAATTCATGGAAGAACACAGCCAAGCTCAGGCAAAACCAAGCTAGGATCAGGCAAAACCAATGAACCCAAATATGTAGATGACGGCTCTTGCAGGCCCCTTCTGTCTGCAGAACACACTGTCTACTGGCAATCCTTTTTCCAAACATGCAGTCTTCTAGCCACTGAAATATACAAGCCATGCTCATCGCACCATCTTCAGTGACTATAGCACCTCACCCTGTTGAATGCAACCACGAGTTCAGAAGAGCTTATGCAGTCACTGCTCCATGACAAGTTTCTCTCACAACTTTTCCATCTTGTTTATGCCAAACTTCTGGTGTTAGTGCATGCAGCATAGCATGGTGTTAGTGTCTCCAGCATGCTAAACCCTTAGAAATACTTTACCCACATTTACCCCCTGCAGGTCACTGTTGGGCTCAGCTGGGGGGACAACAGCATCATTTGTGTTGACAATGGGGACAATGTTCATTCTAAGGAGTTCATGAAGTGTTCCATTGAGGTTCCGGCGCTTCTGCTCATCATGGAAATCCAAATTGGTCACCAAAATCTAAAAGGATTAAATAGATGGAAAATGCATGAGGGAGAAAAACGCTAAACTTCCCAGTATACAAAAGACGCTAAGAGCAGGGGAGTTAAACTTTAGGTTTCTGGGGCCCCACACAGATTAGAAGATTAGAATGAAATACACATATCTGGGTGCTATCCAATTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCGCTCAGGCCGTAATGCAGTGGCATAATGTCTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCTTTCCAAGTAGCTAGGATTACAGGCACACGCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATGGGATTACAGGTGTGATCCACTGCACCTGGCCCCAATTTTTGTAGAGATAAAAAAAATTACAATAATCTGAAAGATTTATTTAAGAATGTTCAAGACTTCTTGCAAAAGTACTTTAATCCTCAAAGAGCTACCAAATTCCAAAATCTCATCCATTTACAAAATTAAGAAAATTAATGTATCTATTTTAGAGGGATACTGGGGGAATCAGTGATTATCCATTAATTTCTTTTCTTTTTTTATAGAGAGGGTCTTACTCTGTTGTCCACGCTGGACTTGAACTCCTACTCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTAAAGATGCACACCGCTGTGCCCCAGCAATTTCTAAAATATCTCTGTATTCTAGGATCTGATTCAGGGCCTGGCCATAGTAGGCCCTTAAATATTTGGTGAGTGAGTGAAAGTGTATTAGACAAAATGGAATAGGGCTGTGTTGTCACTGCTCTTGCTCTAAAGCAGACTATTACTGGAGTTAACTAAGATTGTGTGTGAGCATGTGGGGTTAGTCTGAGAAATTTATGGAAGTTAGTCTTTGGTCACAAGCTGAAAGGGGGGCAGAACACAACTTGGTTCAAGGGAGGAGATGAGCATAAGGTGCTCAAAGGTAGAATGGAGAGCTGGTGTGTGGGCTGGTAAACAGCTCTGCTTTCTAGCTTAAATCAGAATTTTATGCAATGTTTAGGAGAAAAAGATAAATGGGTGAATGGAGATAGCAAGAAACTAAATGGCAACAAACCTTGAGGCTCAACAATAAATAATGCAATCTCTCTAATGTTTACGGAAGAGCGTTCTTGCTGTGTAGGGCAGGATGAGGTAGGGAAAGCTGGAAGCAAATAGTAAAGAAAGCAGGCACTGAAACAGTCAAAGTGAGGATGGTTAAGGGTCTGGCTATGGTAACTGAGAAGAATATAGCAATAAAACAGTAGCCTTAATGGTATATAAAACACAGGAAACATACATATAGAAAAATAATTCACTCACTCGATAAAAAATTTGTTGAGTA
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Task1_train_14317
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Assess the clinical impact of this variant on gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hereditary spastic paraplegia 9A
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ATAAGAATGTTGATGTCTTGGGGAAAAATAAAATGGAGCATATTTTTGAAAGGGAAGATCATGAACTCCTTTTCAGAAAAGCTTAGTGCTGTTGGACACAGGACTAGGTCCAAACTGAACATATAGATTCTAGTCACGATGGTGAAAGATCAAACAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTA
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ATAAGAATGTTGATGTCTTGGGGAAAAATAAAATGGAGCATATTTTTGAAAGGGAAGATCATGAACTCCTTTTCAGAAAAGCTTAGTGCTGTTGGACACAGGACTAGGTCCAAACTGAACATATAGATTCTAGTCACGATGGTGAAAGATCAAACAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGATCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTA
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Task1_train_14318
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Chromosome 10 houses a mutation in gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; ALDH18A1-related de Barsy syndrome
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCAGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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Task1_train_14319
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This variant affects the gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; ALDH18A1-related disorder
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCTGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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Task1_train_14320
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Given this variant in gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hereditary spastic paraplegia 9A
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCTGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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Task1_train_14321
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A variant has been detected on Chromosome 10 in ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Cutis laxa, autosomal dominant 3
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCTGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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Task1_train_14322
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Consider this mutation in ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; de Barsy syndrome
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCTGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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Task1_train_14323
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Located on Chromosome 10, this mutation impacts ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal dominant spastic paraplegia type 9
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCTGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAAC
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Task1_train_14324
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Given a variant located on Chromosome 10 and affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; ALDH18A1-related de Barsy syndrome
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCACACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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Task1_train_14325
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Gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hereditary spastic paraplegia 9A
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCACACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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Task1_train_14326
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This sequence change occurs on Chromosome 10, altering ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal recessive complex spastic paraplegia type 9B
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCACACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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Task1_train_14327
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This genomic variant is located on Chromosome 10, within the ALDH18A1 (aldehyde dehydrogenase 18 family member A1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Cutis laxa, autosomal dominant 3
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCACACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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Task1_train_14328
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This gene mutation involves ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Cutis laxa, autosomal dominant 3
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCACACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACC
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Task1_train_14329
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The gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; ALDH18A1-related de Barsy syndrome
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ACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAG
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ACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAAACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAG
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Task1_train_14330
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A mutation found in ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal dominant spastic paraplegia type 9
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GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAGAATAGTATTATAAATCCCCATGTACATACCACCCAGTTTCAC
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GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTGCGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAGAATAGTATTATAAATCCCCATGTACATACCACCCAGTTTCAC
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Task1_train_14331
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A variant was discovered on Chromosome 10, affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; de Barsy syndrome
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GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAGAATAGTATTATAAATCCCCATGTACATACCACCCAGTTTCAC
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GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTGCGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAGAATAGTATTATAAATCCCCATGTACATACCACCCAGTTTCAC
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Task1_train_14332
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Gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cutis laxa, autosomal dominant 3
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GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTACGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAGAATAGTATTATAAATCCCCATGTACATACCACCCAGTTTCAC
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GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAGACACAGGTGTGAGAGGAAAGAGCCCAGGGGTTGAAGCTTGTTGGGAACTGGAGGGGGCAGGGCTCTTCTTTCACTCAATGTAAATGGAAACAATGGCTGATGCTGCATGGACTCTTAATGCTACCATCATTCAAAACAAAATAAAACAAAAACAAACTCTCAAAAGGTTTCATCCCTGGGAAAAACCAAACCAAAGCAAAACCATAGCTCCCTGACTTGAGCTTCCTCACCTGGCTCCAGGCACTTTAAAAAAATTAAAGACCAAAGTTGTCATTGGACTGTGAAGAGAAACCAAATAATAAAGAAGAGTGATATAAATAGAGATTTATACTGTATTTATACTAACAGAAAAAAAGCTAAGACTACAGAAAGTGGGGTCCCCAGCCATAGGCAATGGGACAAGTCCGTGCCTTTCTGTTTTACCTCACTGACTTGAGGACACTCTGGTGTAATACCAGAACATCACTGTGGGTACAAACAGGCAAATGATGGAGAAACAAAAAAAAGTAACAGGAAATGAAGAAGCAAAACCTGAAACAATATATGTATATATAACAATATCACCTGTGTAAAATAACATCTGTGCATGTAGTGTACATGTAAAATAATATCCATAATATAAAATAACAGCTATTTTACATCTTTACAGGTAAAGGAATTTCAAAATAAAATAATTTGGGAGTTAGATTTTTTTTTCAGTTGTTTCCTGAAGTGACTGTTATTGAGATGTCTCTAGTGTGTAGTTGTACAGTTGATTAAGAATATAATTCAAAAAAATTCAGGAGATTTAGGTAAAAATGAAACAATGTAGAAAGAAGGTTCTAGAACATTTAGGGGTAGCCACCAAAAATTCGTAAGTCCCATGAGGACTGGAATCATGTCTGATTTGTTCACCACAGTATCCCCAATGCCCAAGACTGCTAGGTACACCATAGGTGCTCAATAAATATTTGCTGAATGAGTGAAAAACCAACCAATCACCAGCATTCCTCTTTCCCTTCAAAGCTTAATAAATATCTGCTATAAAAGGCAACCAACCAGGTGCAAAGAGAAGCAAGCCACCTGAAATCAAAGAAGCCAGTGAAATAAAGACATTTAACTTCTCTGTCTTCAGAAGTGTTAGCACTTGGAATCCTAAGTTATTAGTGTAACAAGAACTGATATTTACTGACAATGTATTATGTACCAAACACTATACTAAATGCTTTTCATATATTTTCTCACTGAGCCCTTCCAAAAATTATCTGAAATAGGCACTGATATTATCCCCATTTTCAGATGAGGAAACTGAGGCACAAAAAGGAAAAGAAACTTTCTTCAGATCTCAAGTAGCAAGTGATGAAGCTGACACCATATTCCAATAGTCTGGCTCCAGACCCCTTTGTTCCACAACAACCACCCTCACAGGTCCCACACCCATTTCAAAGCCCAGCCTCTCACCTGGGCAGCACAGATGCTGTACTGGGTAAACATAGCCTCATACAAGGCCATCAGCCCACTCTGTCCGGCAGCTGCACAGGCTCGTGCCTCTAAGACTGGAATTGCCTGTAATATACCAATGAGACAAGGTGTGGTAGGGAATGAGGGAAGAAGACCTGAAGATCCATTTCAATGTGTGGGGAAGCAGCACTCACCATTTCTTTCAGCTGGTTCTGCCCCGAGTGGAGGGCCTGCCGCACGCTCTGAGACAGAAGGATCTCATGGCGCAAGCGTTGTTTGCCAAAGGCTGCGGCTCCACTGGTCACCAGCATCATCTCTCTGCCCTGATTCTGCAGCACTGATACCTGGGCATTGAGAAAGGAAAGGGGACTGTAAGTTACCGTACTGTCTCTTTCATCTCTTCACAAGGGATGGAGGTAGGGTGGGCTATCGAGTAGATCCCAAATGCTGGTTTATGAACCAGCATGTGGCTGGCTCTGGAAGAATCAGCCAGATTGGTAAAAACACAGATTCCTACATCCTGTCTCAAATTTCTATTTAGCAGGTGGCAGACAAAAATCAGACATTTTAATTTATTTTTTAATTAAAACAATTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACAATGCCTGAGCCCAGGAGGTTCAAGACCACCCAGGCAACATGGCAAGACCCAATCTCTACAAAAAGTACAAAATTTAGCCAGGCATGGTAGTGCATGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACCTGAGCTCAGGGAGGTTAAGACTGCAGTAACCCATGATCGCACCACCACACTCCAACCTGGGCAATAGAATGAGAGAGATGCTGTCTCAAAAACAACAACAACAACAACAACAACAACAACAACAACAACAACACCCTAAGAAAAAAATTTTTTTAAGGCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCGTGGCATGAATGTGGCTCACTGCAGCCTTGGCTGCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCTCATGCCACCATGCCCAGCTAATTTTTCTTTTTTAACACATTTTTGTAGAAACAGAGTCTCACTATGTTGCCCAGGCTGGCCTCAAACTTCTGGTCTTAATCCATCCTCCTGCCACGGCCTCCCAAAGCATTGGGATTACAGACATGAGCCACCATGCCTGGCCTAAGTAAGACATTTTTAATGAGGAAATTCTGGTGTGTAGCCAAGTTTGACATCTATAGGACTTGACTGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTACCATTGACAGTAATGGCAAAAACCACAATTACTTTTGTGCCAACCTAATATTTGCAGGGAGTGTGTAATGCAGAAGGCCTAGTTCCTCCAAGAAATGAAGCCCAGAATAAAAGTCCGCAGGTAGGAAATGCAACGCAGACTCAGTAGATGGCTTCTCAGGTTCTAAGGCTTAACCCGGGTAAAGGAGGCTGTTCTGGTGGCATGTCTAATCCTATGGGTTGCCTCTGCCTACACCAGGGGCACATGCTGACCTTGTTCTGCTCTGTCTGCCCAAGACCAAATGCGGTCACTTTGTTTCCTACCTTAAGCAGACCTACATGAAAAAATTAAAGACTCAAGATGTAATAAAGTCAATATTCCTAAACTGTCCTTTCCTTCTGATGTCTGAAACCTTTTAACTGGTCCAGCTGTTTAACAAACAGCTATGATAAACCATGATTTAAAACAATAATAACTTTTTTTTTTTTGAAACACAGTCTTGCTTTGTCACCCATGCTGGAGGACAGTGGCACAATCATGGCTCACTGTAGCCCTGACCTCCAGGACTCAAGCAACCCCCTGACCTCAGCCCCTTGAGTAGCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCGACAATAATATTTTATCACAGAAAGTTTCAGCTGGCTGAGGTGGGACGACTGCTTGAGGCCAGGAATTCGAAACCAGCCTGAGCAAAATAGTAAGACCCCATATCTATGAAAAATTAAAAAAAATAATAGCCAAGTAGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGAAGGATCCCAACTGAGCCCTGGAGTTCAGGGCTGCAGTGAACTATGATTACACCACTGCATTCCAGTCTAGGTGACAGAGCAAGACCCTCTCTCTAAAATAAATAAAAAGAAAAAGAAAAAGAAAATTTAATACTTAACCAAAGTGCTGAGAATAGTATTATAAATCCCCATGTACATACCACCCAGTTTCAC
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Task1_train_14333
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This alteration occurs within gene TCTN3 (tectonic family member 3) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Joubert syndrome 18
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ATCAGTCAGAGCCAAGAGTGGCTTCCCAACTATATAGCCAGGATTCCCACTTCTAGGACTGGTGAGAGAAGCAGCTGTGCTCTGTTGAAAAGCCTGCAGAAAGAGGGAAGAGAAGTCAATTATGGAGATAAGCATACTTTCCCACCTCCCACTGCTTGGCTTCACCGTACCCTTCCTTAAGGCAAGGAAATGCAATAAGTGAGCTACACTGAACAATCTGGCTTCTTTCCACAGTGTAGCATTTTGCTTCTTTCACTTTTTTAAATTTACTAAAATAAATCCTTCATGATCTGAATATTGAAATTCATAATACGCTACTTTTACCAAGGATTACAACCAAGAATCTACTAAGGATCCCTTAAAAATTACTAGCAATTTAGCAATAATAACACAGCCTGGTTAAAATCTGAAAAATTTAAATGTAATTAAAAAATATATATTTTAATTAACTACAGATGTTCCAGAGATGAGCTCTGAGAGACACAGCAGTTGGTTGATCACCTGAGGGTAGAGTTGAGAAAATCTATGCTGGGTTCAAAAAGAGGAAAGAAGTAGCAGAAAGCCAAATGGCAGTGATTAAGAGTGAACACTCAGATTAAGTGGGAAATGAGTAAAATGCTGACTGCCCAGAAATATGAGAACAGCTAGTTAAAGAATTTTTGTAGGTGTTGGCTGAATTTATGATTCAAAATGACTATAAAAAAAGTTTTGATTTTAGATTGAAGTCCTGCTTTGTTGGGGGCCAGACAGAGAATTGGAGAAAATTTTAATGAGTAAAGACTTGTAGAATAACCACAACTTGTAGTAAAATTATGGAATATTAAATGTTGAGGCCTCAATCGACAGACTGAACTAGGCCTTCATATTCTTATTCTATTTCACATGTATTACAGAAGCAAAGAAATTATTTCTAACCCAATATTTCTTCCCCTCTAAATCCCCTATAAGAGAAGGGCCCTAACCCTGAAGCGAAGGATGAAGTGTTGCTGTAAGGAAGCGCCTGGCTCAACAGTCAGGTTGGTTTGTCCCAAACTGACAGAAACTTTCTGGATTCCAAAAGTCCCATTGGTCTCTATCTCATAGGTGACCTGAAATGCAAAAAGAATCAATTAATAAAAAGTAGTTATTGGGCCGAATATGTTTAGGACAGAAGATTTTCTGTCTTCAAGGGTGTTATTATAACTAAATGAGGCAGACTGAAACAGTAATGTTAAAAATGCCAAACACAAATACTATGAAAGATAAAGATGATTTCATATTATATTTGTATATGAAAAAGAAACTGGATAGAGCTCTTTAAAAGGGTTCACGGGTAGGTGAGTTTTTGGTAGGAACTGAAAGGGAAGAAAAATAAGTTGATTACGGACAGAGGAGGGCAAGTAGAAACAGGCAGAGGTGAGCATGGAACAGAAATCTGGTTTACTTGGCTCTCACAATGTTTGAGAATTAATAAAGATCATTGCTGGGGATACAAGTTGCAGGCAATTGAAAGTAACCTTAAATTTCTGAGCATAGTCTTTAAGAAGATGCTTTAAGATAATTCTTACTTTTTAAGGTTAGATTGTTTAGAGAACAGAGGAATACAAGTTGATTAATCTACTTCAGAGTTTCAGATGATACTGTGTCAAGAGAATAAAATGTGGTCAGTCAGTAAGAATCAGTAACAGACTGCAAGTGGGCAACAGAAGAGGTGTCAGAAATAATTTTAATGTCCTGGACCTGAAATACTGGAGGATGGTGGTGATGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGGATTGCAACCAAGAATCTACCAATACAACAAGTTTGCATTCCCAACATTGTTAGAGAATGCAAACAAAATTCAGTTGGGTCAGTCTGATACTTAATGGAAGATGAGGCACCTCTGGCAGTGTTGATTAACACACATCAGTCCAGAATCTGAGGTCAGTATCCCTACCTGAGAAACTACATTCTGACAAGTGTTTCCAGCCAACAGAGGAGCATTAGCCTGTGAGGTAAGTATTACAGGAACCTGGAACTAGCAACGAAAAGAAGCAAATTAACTAAAACTGAAGGCGGTATTTTGTCTTGTATCTATTAATAGATATCATGCTAAGATGAGTATTTTTCCTTCCCCTTGACCACCCTCTCTCTCTCTTCTTCCAGTGCCAGCCAACAACTTAAATTCAAGTCTTTCTAAACGAGCACTTCTCAAAACTTATTTCTCAGAACACTAGTTCTATTAAATATAAAACAAGGGTTCCATAGTCAAATAATTGTTAGAAATACTATATTCAGTATTCCCCTTAGAGATTAATAAGGCCCTCTAGCAAATTAAAGACTCCAGGAGGGGTGAGATGGCTCACGCCTATAATCCCAATACTTTGGGAAGCCAAGTCAGGAGAATTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATAGCAAGATCCCCATCTCTACAAAATATTAAAAAATTAGCTGGGCATGGTGGCACACGTCTATAGTCCCAGCTACTTGGGAGGCTGAGGTAGAAGGATTAGTTGAGCCCAGGAGGTTTAGGCTGCAGTGAACTGTGACCGTGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTCAAAAAAATTAAGAAGCCCACCCTAAATATAGTTTATTTAACCCAATGTTTACAAACTTATCTAACACCTTATGGATCCTGGTTTCATACGAGGCTATTAACTGTATAGGACGTACTTGCAAAGGCACCGTTTTAGATCCCTACTTAATTGTTTGCTACATCACGCTTACATTTATCTTTCAACAGTACAACTTAGACTAAAATTGCCTCAGATGCAGAGGAGCCAAATATTCTTTTTCTTTTTTCCTGGTACAACAGCATCATACCTCCATATTCTGTGGATCAGTCATGCTTCTTGGAACCTAGGAGAACAGCAGGGACATGAATGTGCATATACCTTACCAAAAATCACCAGGAGCTTGTGGTTTCATATTACTACCAATAGGCTTTGGTTTGGCGGGCAGGGGAGTCAATATATTAGAATGATTTACTTCCTCTATTCCACCTGACTCTTCTTTACACTAAAATGCCAGGAAGTGGAGCCAGGCAGGAGGGTGACAGACTGTGATGCCTATTTACTCTGACAGGGCTCTACTGAATAGCAAAAGCAAGAAGTTTGGTGAGATGGGTGTTTTCCCCCTTCCACCCTCGCAAGCCAATCCCATTAGTGAGAAGGGTGATGATCTCTTATCCTGCATATATATCCCCAATTATTTCATTTGTCTTCAGATGTGGTTTCCAGGCCCTCTGTCTTTTACGTGGCTCCTGGGGATTCTGACTTTTATTCAATGCTCTTTCCACAACCCACAACAGTGAGAAGCATGTTCACTTCAACTTCATAGTAGTGACAGTGTAGGGAGAGAAAGGACACCTACCTTTAAGACTGTGAAGTTATAGTAAGAGGCAGCATTGAGGGCTGAATCCAAGGTACAGCTACTAGCCAGGTTCTTGAAAAAACGAGTGCAAGTTGTACTTTTACTCTCTAGGAAACCTTAAACACAAATAATTAAGAGAGTGGTAAATGAGAAAGCCTGTTTTAAATTGAATGAAAAGGTTGGTACTTTTGCTCTGGATTCACCTGCAGGATTGCTTTCAGCACAGAGTCCCCCAGCTCCAACTCCTGCAGGTTGTCTCAGCAAGCTTATTACAGACCACTTGGGGAAGTAAGTAAGAATGGGGTCCCCAGCCTGAATAAAATATAAAAGAAACTTTGTTCACAGTGAGACTGGACTAAACTACAACAGAAAAGAAAGAGTAGAAACAAGGTTAACTCAAGGGCATGATTACGTGGACAGTACTGCCCTCCAAAGAGCTGACAATGGTTTAGCTAGCTGCAGGGTAGTGCTGCAAAGTTACCTTGTCAGCTGTCTGCTGTGAGAGTAAAAACTAAACCAAACAATCCCATCCCCTTCCCCAGGCTCACCCTGTAAAAAGATGGTGGTGATTGAGTTTGGAATGTTGAAG
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ATCAGTCAGAGCCAAGAGTGGCTTCCCAACTATATAGCCAGGATTCCCACTTCTAGGACTGGTGAGAGAAGCAGCTGTGCTCTGTTGAAAAGCCTGCAGAAAGAGGGAAGAGAAGTCAATTATGGAGATAAGCATACTTTCCCACCTCCCACTGCTTGGCTTCACCGTACCCTTCCTTAAGGCAAGGAAATGCAATAAGTGAGCTACACTGAACAATCTGGCTTCTTTCCACAGTGTAGCATTTTGCTTCTTTCACTTTTTTAAATTTACTAAAATAAATCCTTCATGATCTGAATATTGAAATTCATAATACGCTACTTTTACCAAGGATTACAACCAAGAATCTACTAAGGATCCCTTAAAAATTACTAGCAATTTAGCAATAATAACACAGCCTGGTTAAAATCTGAAAAATTTAAATGTAATTAAAAAATATATATTTTAATTAACTACAGATGTTCCAGAGATGAGCTCTGAGAGACACAGCAGTTGGTTGATCACCTGAGGGTAGAGTTGAGAAAATCTATGCTGGGTTCAAAAAGAGGAAAGAAGTAGCAGAAAGCCAAATGGCAGTGATTAAGAGTGAACACTCAGATTAAGTGGGAAATGAGTAAAATGCTGACTGCCCAGAAATATGAGAACAGCTAGTTAAAGAATTTTTGTAGGTGTTGGCTGAATTTATGATTCAAAATGACTATAAAAAAAGTTTTGATTTTAGATTGAAGTCCTGCTTTGTTGGGGGCCAGACAGAGAATTGGAGAAAATTTTAATGAGTAAAGACTTGTAGAATAACCACAACTTGTAGTAAAATTATGGAATATTAAATGTTGAGGCCTCAATCGACAGACTGAACTAGGCCTTCATATTCTTATTCTATTTCACATGTATTACAGAAGCAAAGAAATTATTTCTAACCCAATATTTCTTCCCCTCTAAATCCCCTATAAGAGAAGGGCCCTAACCCTGAAGCGAAGGATGAAGTGTTGCTGTAAGGAAGCGCCTGGCTCAACAGTCAGGTTGGTTTGTCCCAAACTGACAGAAACTTTCTGGATTCCAAAAGTCCCATTGGTCTCTATCTCATAGGTGACCTGAAATGCAAAAAGAATCAATTAATAAAAAGTAGTTATTGGGCCGAATATGTTTAGGACAGAAGATTTTCTGTCTTCAAGGGTGTTATTATAACTAAATGAGGCAGACTGAAACAGTAATGTTAAAAATGCCAAACACAAATACTATGAAAGATAAAGATGATTTCATATTATATTTGTATATGAAAAAGAAACTGGATAGAGCTCTTTAAAAGGGTTCACGGGTAGGTGAGTTTTTGGTAGGAACTGAAAGGGAAGAAAAATAAGTTGATTACGGACAGAGGAGGGCAAGTAGAAACAGGCAGAGGTGAGCATGGAACAGAAATCTGGTTTACTTGGCTCTCACAATGTTTGAGAATTAATAAAGATCATTGCTGGGGATACAAGTTGCAGGCAATTGAAAGTAACCTTAAATTTCTGAGCATAGTCTTTAAGAAGATGCTTTAAGATAATTCTTACTTTTTAAGGTTAGATTGTTTAGAGAACAGAGGAATACAAGTTGATTAATCTACTTCAGAGTTTCAGATGATACTGTGTCAAGAGAATAAAATGTGGTCAGTCAGTAAGAATCAGTAACAGACTGCAAGTGGGCAACAGAAGAGGTGTCAGAAATAATTTTAATGTCCTGGACCTGAAATACTGGAGGATGGTGGTGATGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGGATTGCAACCAAGAATCTACCAATACAACAAGTTTGCATTCCCAACATTGTTAGAGAATGCAAACAAAATTCAGTTGGGTCAGTCTGATACTTAATGGAAGATGAGGCACCTCTGGCAGTGTTGATTAACACACATCAGTCCAGAATCTGAGGTCAGTATCCCTACCTGAGAAACTACATTCTGACAAGTGTTTCTAGCCAACAGAGGAGCATTAGCCTGTGAGGTAAGTATTACAGGAACCTGGAACTAGCAACGAAAAGAAGCAAATTAACTAAAACTGAAGGCGGTATTTTGTCTTGTATCTATTAATAGATATCATGCTAAGATGAGTATTTTTCCTTCCCCTTGACCACCCTCTCTCTCTCTTCTTCCAGTGCCAGCCAACAACTTAAATTCAAGTCTTTCTAAACGAGCACTTCTCAAAACTTATTTCTCAGAACACTAGTTCTATTAAATATAAAACAAGGGTTCCATAGTCAAATAATTGTTAGAAATACTATATTCAGTATTCCCCTTAGAGATTAATAAGGCCCTCTAGCAAATTAAAGACTCCAGGAGGGGTGAGATGGCTCACGCCTATAATCCCAATACTTTGGGAAGCCAAGTCAGGAGAATTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATAGCAAGATCCCCATCTCTACAAAATATTAAAAAATTAGCTGGGCATGGTGGCACACGTCTATAGTCCCAGCTACTTGGGAGGCTGAGGTAGAAGGATTAGTTGAGCCCAGGAGGTTTAGGCTGCAGTGAACTGTGACCGTGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTCAAAAAAATTAAGAAGCCCACCCTAAATATAGTTTATTTAACCCAATGTTTACAAACTTATCTAACACCTTATGGATCCTGGTTTCATACGAGGCTATTAACTGTATAGGACGTACTTGCAAAGGCACCGTTTTAGATCCCTACTTAATTGTTTGCTACATCACGCTTACATTTATCTTTCAACAGTACAACTTAGACTAAAATTGCCTCAGATGCAGAGGAGCCAAATATTCTTTTTCTTTTTTCCTGGTACAACAGCATCATACCTCCATATTCTGTGGATCAGTCATGCTTCTTGGAACCTAGGAGAACAGCAGGGACATGAATGTGCATATACCTTACCAAAAATCACCAGGAGCTTGTGGTTTCATATTACTACCAATAGGCTTTGGTTTGGCGGGCAGGGGAGTCAATATATTAGAATGATTTACTTCCTCTATTCCACCTGACTCTTCTTTACACTAAAATGCCAGGAAGTGGAGCCAGGCAGGAGGGTGACAGACTGTGATGCCTATTTACTCTGACAGGGCTCTACTGAATAGCAAAAGCAAGAAGTTTGGTGAGATGGGTGTTTTCCCCCTTCCACCCTCGCAAGCCAATCCCATTAGTGAGAAGGGTGATGATCTCTTATCCTGCATATATATCCCCAATTATTTCATTTGTCTTCAGATGTGGTTTCCAGGCCCTCTGTCTTTTACGTGGCTCCTGGGGATTCTGACTTTTATTCAATGCTCTTTCCACAACCCACAACAGTGAGAAGCATGTTCACTTCAACTTCATAGTAGTGACAGTGTAGGGAGAGAAAGGACACCTACCTTTAAGACTGTGAAGTTATAGTAAGAGGCAGCATTGAGGGCTGAATCCAAGGTACAGCTACTAGCCAGGTTCTTGAAAAAACGAGTGCAAGTTGTACTTTTACTCTCTAGGAAACCTTAAACACAAATAATTAAGAGAGTGGTAAATGAGAAAGCCTGTTTTAAATTGAATGAAAAGGTTGGTACTTTTGCTCTGGATTCACCTGCAGGATTGCTTTCAGCACAGAGTCCCCCAGCTCCAACTCCTGCAGGTTGTCTCAGCAAGCTTATTACAGACCACTTGGGGAAGTAAGTAAGAATGGGGTCCCCAGCCTGAATAAAATATAAAAGAAACTTTGTTCACAGTGAGACTGGACTAAACTACAACAGAAAAGAAAGAGTAGAAACAAGGTTAACTCAAGGGCATGATTACGTGGACAGTACTGCCCTCCAAAGAGCTGACAATGGTTTAGCTAGCTGCAGGGTAGTGCTGCAAAGTTACCTTGTCAGCTGTCTGCTGTGAGAGTAAAAACTAAACCAAACAATCCCATCCCCTTCCCCAGGCTCACCCTGTAAAAAGATGGTGGTGATTGAGTTTGGAATGTTGAAG
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Task1_train_14334
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The gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; TCTN3-related disorder
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCATGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCCTGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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Task1_train_14335
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Gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Joubert syndrome and related disorders
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCATGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCCTGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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Task1_train_14336
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A variant was discovered in gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Joubert syndrome 18
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCATGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCCTGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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Task1_train_14337
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This mutation is located in gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Orofacial-digital syndrome IV
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCATGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCCTGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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Task1_train_14338
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This variant lies on Chromosome 10 and affects the gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Orofacial-digital syndrome IV
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCATGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCGTGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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Task1_train_14339
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Gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Joubert syndrome 18
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCATGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTAAAGTTCTTTATGAGTTTTCTGATCCATAGCCAACAGAACATAAAAAGTTGCAAATGTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGTCGAGGTGGGTGGCCCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACACACCCATAGTCCCAGCTACTCGGGAAGCTAAGGCAGGAGAATCACTTTAATCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCACTCCTGGCGATAGGTGGAGGCTCCGTCTCAAAAAAAAACAAAAATGCAAATGTATTCCGTAATAAGAGAGAAGAGGCAGAAAGAGGCGTAGAGATTCAAAGGACAAAAAAAAAAAAAGTTTAAAAAAAAGAAATGGAAAAAAGGCCAGAATAAAAGCCAATTCTCAATAAATGTTAGACCAAGCTTGTCCAACCTGCAACCCACCGGCCGCATGCAGCCCAGGACGGCTTATGAATGCAGCCCAACAACACAAATTTGTAAACTTTCTTAAAACATTTGACATTTTTTTTGCTTTTTTTTTGTTGTTGTTTTTAACTCATCAGCTATCGTTAGTGTATTTTACGTGTGGCCCAAGACAATTCTTCTTCCAATGTGGGCCAGGGAAGACAAAATATAACACTCCTGTGTTAGAAAATGAGAACAACCAACATGTTTCTACTCACAGTTGTTCACATGGACACAAAACTGCCTGATTCCATTAGAATCCATGAAAACTCTTGAAGGAAACGGGGAATTACTCCTGAAGATAACAGAGTTGTCTACACAAACCCAGCTTGAAGACCTGTGAGGAAAGAGGAGGGAGAAGATATATTTAGAAGGGGCGGGGCAGGTCCAAAAAAGAGTGTCCCAGCAATATCGGCCAGATGATGCCAAAGAGGACTCCTTGGGCACCTATAGGACGACACGAAGGTCTTATTCTACTGGCCAGCCCTGCTCTAGAGAATCAGAAAAGGCAATTCCTAGGAAAAACCAAGGGAATGTCCTAGGAGTGGAAGTACGGGTGGGAGGCACAAAGACTAACTCTTCTTACATCCAAATGTTACCCGTTGTAGGCCCCAAACCCCTTTAGGATTCAGTCTGAGCAACGAAGCTCACCTTACGCTGCCTGGAAGGCAGAAGGAGAAAACTGTCCTCGGATGGAGAAGATAGCAGTCCCTGTCGCAGCAGCAATTTATATCGCAGGCTCCAGGAGTCAAGTCACAGACACAGATCGGTAAGACTATGAAAGTACGACACAGAGTGAGTGGGATGAAGATCCCCAAACTCTCCCAGGTGCTCACCCTCCTTCTTCCGACAGCCCCACTCCTGCTTTGTGGCAGCTCAACTTTGCTCACAGAATTTTAGATCTCAGAAGTAAGTTTCCACCCCCACAACGTTTTCCCTCACCTGGGAAGAGGTCCACAGTCCTATTCCCAGGGGCCGAGGGAGTCACGAGAGTAGGGACCACTGTAGGGAGTCCAGGCACGGCCGGGCGAGTTGCAGTCGCCTCTGAAGGGGACTGGAGGGTTCCGCCATCCGTCCCTCGCTGCAGCTCCAAAGACGTGGGCACTGCCCCTGATGGGGAGGAAGAGGGCTGAGGCCGGACGCCATCGGGGAACACCAGAAAGAACACTTGCAGGAGCGCGAGCTGTGGGGTGCGCGTGGGGCATTCAGGGCCTCCGGGTCCGACGTAGGCCTCCGCGGTCTCCAATCGCATTGCCAGAGCGTGGGTGGGAGGAGTCGCATAGCGTCTGACGCCATCCGCGTGCCTCTTCTCATTGGCTCATGAGAAGGCTGAGAGCTCTTCAACCAATCGAAAGTGGGGTTGTTACAGCTCTTTCAGTGTCCTTCGGTCTGCGCCCTCCTCCTTAACGCGGGCCGGGCCGTGCCTCCGTTGCCTGGCAACCGTCAGTGACGAAGAAGCCCTTGCGCCTTCCTTCCGCTAGGTGGCGGTAGGAGTTCGGCGGACCGAGAGGTTCCGCGCCCACTTCGCGGCCCAGAGGACTGAGCCCGGCCTCCGGTGCAAGGAAACCCCAGAGGCCGGAACTAGAATTGCAAATTTTTTTTCACCCCGGATTCCAACGGTGAGAAACCCTTTCTATGGAAGAATAATGTTCTCAGGTGGGGGAAACACACCTAAGGTCACATACCTTAAAAAACAGTCTCCTCTAAATATGGCTTTTTTAAAAAAAAAAAAAACACATTAGAAATAATGTTCATTCAGCTCCTTACATTTTAACATTGAGAAATTTTGAAAACCCTAAAGAAATGCATCAAATCATTAAAGATGGACTGCATGTTTGTTGTTAGAAAAAGCAGTGAGAGAAAAATAAGAAAAAAGGGCAGGAAAAATGTGAGAAAATAGGGAGAGAAAGAATAAAAAAAAGAAACATTGTCTAGGAGGTGAGAAAATAAGATGGAGGAATGGAAATAGAAGATTTTTTTCCCCGTGTTAATGGCAAATTTTTTAAGCCTCTCTAGGAGGTTTTTGTTCTTCCCGGGAATGGCGTGCCTCTTCCGATTCCCCACAGCAGCGCGGGCCATGGGACTTTCCTTCGGTATTGGAAATGTACCGTAGCTGCACTGTCCAGCATGGTAGTCACCGGCCTTATGTGGCAATTGTGCGCTTGAAATGTGGCTAGCGTGACTGAGGAGCTGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTTTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCTAGGATTCAGGTGATTCTTCTGTTTCAGCCTCCTGAGTAGCTGGGATGACAGGCACGCGCCACCACGCCCGGCTAATTTTATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGACCCTCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGCTGTGAGTCGCTGTGCCTGGCCTGAATTTTTAATTTTTAAATTGTAATTAATTCAAAGTTAACCACAGACGTGAGTAGCTACCATATTGTACAGTGGGACTGTAGATGATCAAAATATTGCTCCTCCTAGACCCAGTATTTTCCTATGTCCACGGTTCTGACATCTGGATTATTTTGGATATTTAGTTTTAGTATATAAATTAACATCTGTTAAGAGTTATCTAAAATCTAGTACACTTACCTAAAATCTGGTCAACACCTCCCTTTACAAGTGAATCATTTAACTCAGGTAAGTTTTAGGACATTTGACTTTACTTGAATTCTCTTACAAGATCTTTATTTTCTAATGTTTTGAAGTCAGTAGCTAAAAGTCTCTCTGTGTTATAAATATTTTCAAATATGTTTTTATGTTGTTGTGTGATAGACAGCTATGGGAGATATGTGTTTGGTCTTAAAACATTTATTTACCTTATTAGTAATTTCTATAGGAAAAGGCCAAGTTCATATTATTCAGATTATATGATCATATGTATATACTAGAATGTAAATTCCAAAAATAGTGAGTTTTGTCTGTTTTGTTCATTGAAATATCCCCATGCCTAGAACAGTGTCTGGGACATGTTAGATGTGCATTAAATATTTTAAAAATATATTAAAAATTGTTTTGTTGAACTCTTTAGAATTAATCCTTAGGAATATTTTTAGTTTATTTTATTTCAGGATTGTATTTCTTTCTATAAAATTTCTTCTTTTTGCAACCAATT
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Task1_train_14340
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This sequence variant lies in ENTPD1, ENTPD1-AS1 (ectonucleoside triphosphate diphosphohydrolase 1| ENTPD1 antisense RNA 1) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hereditary spastic paraplegia 64
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GGTAAGTAGTGTAAAATAATAATGATAATAATAGTAGCAGCTCGTATTTATTGAGCCCGTCCTATGTTCTTAGCACTACGCTAAGCACTTAATTGCACTGTCATAACAACTCTATGAAATTAACAATTATTAACAAGATAAGGAAGCTGTGGCTTACAAATGTTAAGTAACTCACCCAAGGTCACACACCTGGGAAGTGGTGGAGCCAGGATTCTGAGTGGGATTCTGAAAAGGAAGGGTCCAGGTCACAAAGTGCCCTATGGGGCCATGCTAGGAAGTTTGGAGTTTATCTTAGAGATAGTAGGAAGCCATTAAAGGATGCTACACAACTGGTGACACTGGTAGAGAAGATGGATTGGAGGGGAGAAAAGCTGGGGATAAAAGGAAGGCAGTTAGTAGGTGTGGACGCCATTTAGATGAGAGATGACAGGGGCCTAATGCCAGCTGGAAGGTAGCATCCTCTCGCTCAGAGACTCCCAGTGTTGGGTAGCCTAGATCTTGGAAGCAATTGCATCCCATCTTCATTAAGACAACCCTGGAAGATTCCTTCTTTAGGTCTCAAGGTCTCAAACAGACCCAAGAACTGAGCTGTAATATGAGGAAGATTTTTCCCAGTCTGGCAGCAGAGGAGATTGGATATCTATTCCAGGTCATTTGCCACCTGGTTTCTACTAGAACCCTAATTAAAAACCTGGAGCAGAGTCTGGCCATGTAACCAGCTAGGAGCCACCCACAGTGGTTAATATAGCACACATCAGCTTCAGGTATGGTCATCAAACCATACCCAGCTATCACCACCACAGTAATTTTAAGAGCCTTTGATAACTTTTTGAGCCAGGGAACTTCAGAACAAAAGTGGTATTTTAAGGAAAACCAACCTATGAAAGGATTGGAAGGATGTGGATTTGGAGAGAGATGAACAAAATATTAATTCTGCCTCATCCAAAAAAGGGGTTTCTTGGACAGCTATGTGCGAAGATCCCCATCTCTTCATTTATTCCAGGGCATTATGGTTCACTTCTTAGTAGCACTGTGTGGATGCTGTAGCTGAAATGGGTAATGTAATATAATTATTAAAACAAAAATGATAACCTCAGCTCTTCCTTTGTACAGGATGGAAAGTGAAGAGTTGGCAGACAGGGTTCTGGATGTGGTGGAGAGGAGCCTCAGCAACTACCCCTTTGACTTCCAGGGTGCCAGGATCATTACTGGCCAAGAGGAAGGTGCCTATGGCTGGATTACTATCAACTATCTGCTGGGCAAATTCAGTCAGGTGAATATCTCACAGCATCCATGGAGGTGGCTCTCTGGAGGCCAATGCCATTGCTATCTCAGGCAGTACTTGGGTCGCTAGCCAGAATGAATGAATGAATGATAGATGGATGGATGGATGGATGACTGGATGAATGAATTTACTCTCACATTTGTAAGGGTCACCAGAGGTATAATTCTCTTACAAGACCTTCTACTATTGGGAGAATAAGGACATGTCTTTACCTTAGGGAGGCATAAAGGAAATTAAAAATTTATCATTAAAAATTAGAATAGCTAACATTTGCCTTCTGCTATGTGTCTCCCGCTGTGCTCAGCACTTTTCATGTTTTCTCTGATTTTATCCTTAGAACAACACTATGAGGTACTACATCATCCCCATTTTAGAGCCCCATATCGATGCCTAGAGAGGGTAATTAGTCTGCCCATGGCTGTACAGCTAACAAGCGACTGAGTGAGAATTTGAACTTGAATGTGTCTGGCCTCAGACCTCTTGTTTTTAAACACCAGTTACACTGCTTCTATGTCCGGCAGTCTGAGCTATGTCTTTGAAGCCCCTCTTTTCTTGCTGATAATCTGTTGTAGATCAGGAGCCTCTAGTGAGCTTTGCCTCACCTTTATGCCCCTGTTTCTTTGCCTTAGGAAATCCCTGACTCCAATAGATACTATGAAAAGCAGGGTGTCCAGAGACTTCTAGCACTGGTAACTGTACTGTCTTTCAGAAAACAAGGTGGTTCAGCATAGTCCCATATGAAACCAATAATCAGGAAACCTTTGGAGCTTTGGACCTTGGGGGAGCCTCTACACAAGTCACTTTTGTACCCCAAAACCAGACTATCGAGTCCCCAGATAATGCTCTGCAATTTCGCCTCTATGGCAAGGACTACAATGTCTACACACATAGCTTCTTGTGCTATGGGAAGGATCAGGCACTCTGGCAGAAACTGGCCAAGGACATTCAGGCAAGTATAACTCAATCCAGACCTGCCCCCTTCACATCTGCACCTCCAGCCCCCACATCCTGTTGTTTTCTGTTTCAAATTCAGTAGTTTGTCTGAACTTGGTTATTGTACTTTCCAAACCTTTTTAGGCAGGATATTGAACTACATCTGGTTGACCCCTATAAATTGTTTCAGTCAGACATCCCCTCCCATGTTTGTTTACTGCGTTATCTCCACAGACACAACTGAGATCTTCTCTCAGGAAATAATTTCTCCCCCTCGTGGGGTTGATAATGAAAATTATGTGGTAGAATATTGTTTGTTGGAGGGGGAATTGCAATTTATAAGCTCTTTTAGACCACTTTTTAAAGCTCCCTTTCCTACAAACTACAAAAAAACAGAGTTGTTAGAAATGACCTGGAGAGGAGAAGGAAAAAAAAAAAAACACTTCAGGAGAAACACAAAATGTATCAATTGACACTTCAAATCTTGTCATCTTGTCCCCAGATGCCTTCTGCATTTTGAAGACAAGAAAAGTTAAACACACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAGAAAAAAAATTAGCTGGGCATGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGAAAGGAGAATCACTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAGAAAAAAAAGAAAAGAAAAAGAAAAAGAAAACAAAAGTTAAACATACTCAACATCATGTGAGTACCAGGCACACCCTGACAAGCAAACACAAAGCCAGGATGTCATATCCAGCTGTTCCCTGTCTCCACTGAAAGGATAACAAGTTCTCTGCTCTCCTCCAAAGCATTCTCTCTGGTTTTCAAAACCACTACCAATAAGATGGTCCTGGGAGTAGGGGGCGCTGAGAGACATCCACTGAGCCTCAAAGCTCCACTAACCTTCTTATCCACAGCAGCCTCCTTTCTTCCCTAGTAGGTTGTGGGTTAGAAATTACTTTTTTTTGGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCCGGAGTTCGAGACCAGCCTGACCAACATGGCGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACACACCTGTAATTCCAGCTACTAAGGAGTCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCTGAGGTTGCAGTGAGCTGAGATTGCGCCATTTTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAATTATTTTTCTTGGATAGGAGAATGCTTGAAGAAGAAAAAAAATTTTTTTAATAATTTTTAAATTATGTAGGCTCCTGGAGAACTACTCCCAGGCCCAAATTTTTGACAACCTTGAGAGTTTCCTTGTGAATTTGCTCCTGACCTAGATGATTAGGACTAAGCACTCAGGGACATTTCAAACTAATGGCATTTCTGGGCCCAGTTTTAACTACATCAGCATTCTTTGACTAGCCAAATACATTTATATCTGATACCACTTCTGGTGCCTGTTACACAAATCCATTTTTCATATTTATTCCTAAGGGTAAAAAGGCAGGGCAGGACATATTGATTCCAATACCAAGTGGTGGGATGTTGTACAGTGCCTACATATTGATTAAGTCAGACTGTACCTTTTGTATCCAAAGCGTTCACACATGATGCTTTCAAGTGATTTTTCCATTCAGGTTGCAAGTAATG
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GGTAAGTAGTGTAAAATAATAATGATAATAATAGTAGCAGCTCGTATTTATTGAGCCCGTCCTATGTTCTTAGCACTACGCTAAGCACTTAATTGCACTGTCATAACAACTCTATGAAATTAACAATTATTAACAAGATAAGGAAGCTGTGGCTTACAAATGTTAAGTAACTCACCCAAGGTCACACACCTGGGAAGTGGTGGAGCCAGGATTCTGAGTGGGATTCTGAAAAGGAAGGGTCCAGGTCACAAAGTGCCCTATGGGGCCATGCTAGGAAGTTTGGAGTTTATCTTAGAGATAGTAGGAAGCCATTAAAGGATGCTACACAACTGGTGACACTGGTAGAGAAGATGGATTGGAGGGGAGAAAAGCTGGGGATAAAAGGAAGGCAGTTAGTAGGTGTGGACGCCATTTAGATGAGAGATGACAGGGGCCTAATGCCAGCTGGAAGGTAGCATCCTCTCGCTCAGAGACTCCCAGTGTTGGGTAGCCTAGATCTTGGAAGCAATTGCATCCCATCTTCATTAAGACAACCCTGGAAGATTCCTTCTTTAGGTCTCAAGGTCTCAAACAGACCCAAGAACTGAGCTGTAATATGAGGAAGATTTTTCCCAGTCTGGCAGCAGAGGAGATTGGATATCTATTCCAGGTCATTTGCCACCTGGTTTCTACTAGAACCCTAATTAAAAACCTGGAGCAGAGTCTGGCCATGTAACCAGCTAGGAGCCACCCACAGTGGTTAATATAGCACACATCAGCTTCAGGTATGGTCATCAAACCATACCCAGCTATCACCACCACAGTAATTTTAAGAGCCTTTGATAACTTTTTGAGCCAGGGAACTTCAGAACAAAAGTGGTATTTTAAGGAAAACCAACCTATGAAAGGATTGGAAGGATGTGGATTTGGAGAGAGATGAACAAAATATTAATTCTGCCTCATCCAAAAAAGGGGTTTCTTGGACAGCTATGTGCGAAGATCCCCATCTCTTCATTTATTCCAGGGCATTATGGTTCACTTCTTAGTAGCACTGTGTGGATGCTGTAGCTGAAATGGGTAATGTAATATAATTATTAAAACAAAAATGATAACCTCAGCTCTTCCTTTGTACAGGATGGAAAGTGAAGAGTTGGCAGACAGGGTTCTGGATGTGGTGGAGAGGAGCCTCAGCAACTACCCCTTTGACTTCCAGGGTGCCAGGATCATTACTGGCCAAGAGGAAGGTGCCTATGGCTGGATTACTATCAACTATCTGCTGGGCAAATTCAGTCAGGTGAATATCTCACAGCATCCATGGAGGTGGCTCTCTGGAGGCCAATGCCATTGCTATCTCAGGCAGTACTTGGGTCGCTAGCCAGAATGAATGAATGAATGATAGATGGATGGATGGATGGATGACTGGATGAATGAATTTACTCTCACATTTGTAAGGGTCACCAGAGGTATAATTCTCTTACAAGACCTTCTACTATTGGGAGAATAAGGACATGTCTTTACCTTAGGGAGGCATAAAGGAAATTAAAAATTTATCATTAAAAATTAGAATAGCTAACATTTGCCTTCTGCTATGTGTCTCCCGCTGTGCTCAGCACTTTTCATGTTTTCTCTGATTTTATCCTTAGAACAACACTATGAGGTACTACATCATCCCCATTTTAGAGCCCCATATCGATGCCTAGAGAGGGTAATTAGTCTGCCCATGGCTGTACAGCTAACAAGCGACTGAGTGAGAATTTGAACTTGAATGTGTCTGGCCTCAGACCTCTTGTTTTTAAACACCAGTTACACTGCTTCTATGTCCGGCAGTCTGAGCTATGTCTTTGAAGCCCCTCTTTTCTTGCTGATAATCTGTTGTAGATCAGGAGCCTCTAGTGAGCTTTGCCTCACCTTTATGCCCCTGTTTCTTTGCCTTAGGAAATCCCTGACTCCAATAGATACTATGAAAAGCAGGGTGTCCAGAGACTTCTAGCACTGGTAACTGTACTGTCTTTCAGAAAACAAGGTGGTTCAGCATAGTCCCATATGAAACCAATAATCAGGAAACCTTTAGAGCTTTGGACCTTGGGGGAGCCTCTACACAAGTCACTTTTGTACCCCAAAACCAGACTATCGAGTCCCCAGATAATGCTCTGCAATTTCGCCTCTATGGCAAGGACTACAATGTCTACACACATAGCTTCTTGTGCTATGGGAAGGATCAGGCACTCTGGCAGAAACTGGCCAAGGACATTCAGGCAAGTATAACTCAATCCAGACCTGCCCCCTTCACATCTGCACCTCCAGCCCCCACATCCTGTTGTTTTCTGTTTCAAATTCAGTAGTTTGTCTGAACTTGGTTATTGTACTTTCCAAACCTTTTTAGGCAGGATATTGAACTACATCTGGTTGACCCCTATAAATTGTTTCAGTCAGACATCCCCTCCCATGTTTGTTTACTGCGTTATCTCCACAGACACAACTGAGATCTTCTCTCAGGAAATAATTTCTCCCCCTCGTGGGGTTGATAATGAAAATTATGTGGTAGAATATTGTTTGTTGGAGGGGGAATTGCAATTTATAAGCTCTTTTAGACCACTTTTTAAAGCTCCCTTTCCTACAAACTACAAAAAAACAGAGTTGTTAGAAATGACCTGGAGAGGAGAAGGAAAAAAAAAAAAACACTTCAGGAGAAACACAAAATGTATCAATTGACACTTCAAATCTTGTCATCTTGTCCCCAGATGCCTTCTGCATTTTGAAGACAAGAAAAGTTAAACACACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAGAAAAAAAATTAGCTGGGCATGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGAAAGGAGAATCACTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCAAAAAGAAAAAAAAGAAAAGAAAAAGAAAAAGAAAACAAAAGTTAAACATACTCAACATCATGTGAGTACCAGGCACACCCTGACAAGCAAACACAAAGCCAGGATGTCATATCCAGCTGTTCCCTGTCTCCACTGAAAGGATAACAAGTTCTCTGCTCTCCTCCAAAGCATTCTCTCTGGTTTTCAAAACCACTACCAATAAGATGGTCCTGGGAGTAGGGGGCGCTGAGAGACATCCACTGAGCCTCAAAGCTCCACTAACCTTCTTATCCACAGCAGCCTCCTTTCTTCCCTAGTAGGTTGTGGGTTAGAAATTACTTTTTTTTGGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCCGGAGTTCGAGACCAGCCTGACCAACATGGCGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACACACCTGTAATTCCAGCTACTAAGGAGTCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCTGAGGTTGCAGTGAGCTGAGATTGCGCCATTTTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAATTATTTTTCTTGGATAGGAGAATGCTTGAAGAAGAAAAAAAATTTTTTTAATAATTTTTAAATTATGTAGGCTCCTGGAGAACTACTCCCAGGCCCAAATTTTTGACAACCTTGAGAGTTTCCTTGTGAATTTGCTCCTGACCTAGATGATTAGGACTAAGCACTCAGGGACATTTCAAACTAATGGCATTTCTGGGCCCAGTTTTAACTACATCAGCATTCTTTGACTAGCCAAATACATTTATATCTGATACCACTTCTGGTGCCTGTTACACAAATCCATTTTTCATATTTATTCCTAAGGGTAAAAAGGCAGGGCAGGACATATTGATTCCAATACCAAGTGGTGGGATGTTGTACAGTGCCTACATATTGATTAAGTCAGACTGTACCTTTTGTATCCAAAGCGTTCACACATGATGCTTTCAAGTGATTTTTCCATTCAGGTTGCAAGTAATG
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Task1_train_14341
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Here is a genetic alteration in EXOSC1 (exosome component 1) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Pontocerebellar hypoplasia, type 1F
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TTTTGGTGATTCTCTCAGAATTTCTTGGTATACAACTATATTGCCTATAATCATTGACAATTTTACTTTTTTTGTTTTTTTTTGAAATGGAGTTTCACTCTTGTTGCCTAGGATGGAGTGCAAGGGTGCCATCTTGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGAAGCCTGTCACCATGCTCGGGTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCGACAATTTACTCTTTCCTCCAAAGTTATACTGCTTCCTTCTGTTTCTTATTTTATTGCACAGGCTGAAATTTCCACAAAAATGTTACATAATAGCGGCTATGCTTGTTTTCTTCTATTTTAAGTGAATACTTGCAGAGTTTTCTCTTTGAGCATGGTATTGGCTGTTGGTATAAGACAGATATTTTGAGCCTCATCTTTTATCAATCTCTCCGTTGCTCACAATGCTTCAGCTCTCCTGGCCTTCTTTCAGTTTCCCCAACTTACTAAATTCTTCCCACTTTCAGATCTCTCTTCAACCTATTCTTTCTGCCAGAGCTGCACTCTCTCCACCCACCTGACTCTTACCTACTCTTTAGATGATTCAGCTTAAATGTCACTTCTGCTGACTAGGATGGGTTTGCCTGTTACATGTTCTCAAGGTGCCCTGTAATATTCTTTCAAAGCACCACCACATATGTAACCATATGCTCATTTGAGCATTTATTTGTTTACAATTTGTGTCTGTGTCCTTTGATAGCAGAAACCAAGTCAGCGCTGTGCCTGACACATGAAAATACTCAAGTGATATCTATGAAATGAACAAACTCAGGACTGTTAAGAACATTCCCAACAATGACTGAATAGAAAGCCCCTTGAATCAGACAGCTTAAGTTACTTACTCAAAGCAGAATCAAAGTCAAGTTAGCCAGAACGTAACTGTTCTAATTCTGAATCCTCTTTCTATTGTGCTCCTTCAAATATTGCTTATATGATCCTGAGCTAATCCTGGATCTATCTCTGAAACTAGAAAGGTAGGTATTACTCACACATTCAACATTTATTGAGGAGCTGCCTTGTGCTATATACGGATGGTATGGTGGTAGGGCCTGCTTTCACGGACTTAGATTTAAGCAGGGGAGAAGTCTAGTAGGAAACATATACCTGAGTGTCTCATCATATGCTGACATAGTGCTTGGAAGAAAAGGAACAGAGTTTTTTGTGAGTCTTTAACAAAACAAACAAAAACAAAACACCCCACAAAACTCCTTTCCTCAATTAGTGGGTCCAGAAGGACTTCTCTGAGGTGATAGTAGAGAAGCTATCTAAAGGAGGTAGGAATTAAATAGGCCTAGGAAGATAGAAGCGTTCCAGATAGATGGCATGTTACAAAGGCTCTGTAGCAGGAGAAAGCTTGGCGCATTACCGACACTGAAAGAAGCTAGTATGTTATAAAAAATTTTTAAAGGGCAAGCAGAGACTGTGATTATAACTTTTAAACACAGAAAAGACAGTATGACTAGATTGCGTCAGTGAGGTGGAGATAGTGGCGCTAGATAAAGTCGGAAAGGTAAGCAACATTCATACAGTATGCAACTCACTGCTGGGCTGAGCTGGGCTGGGATGGGATACTGAGTTCGCATCTGCTTTTGTCCCAACTTCCCTCCCCGAGGGTCAGCAGCACAACCAAGCGAGATCAACACAACTAGTGTGTGGTGGCTAAGTGCACCACAGCGGCGATACGGCTAGAAGAAACTAAGAGACCAACATTGTACCACTGAGGCACTAAAGACGCGTCCGCAGTGCCCATGCCTAAGGACTGGAACTCAAGGGCAGCCTAAGGGAAAAACAGAGGGGAGATGGCATGCCGCTTCCTTTACCGCGCCATTCTCGCTGCTCTTCATCAGACAGCCGGCAAGCGACGAAAAGATGTAGCCGTGGCGGGTGTAGGTGCCGCTGCCCGGGCTGCCCTCCTCCAAGTTACACAGACGTTCGCCTGCAGAAAAAATGCTGCATCGGTCACGGGCCCCCAGAAGCTGTAGGCCGTTTAGCCTTCTTGCTTCAGCCCCTATCCAGGACTCTGTACGGGAAGCGCTCACTTACCGGGGATGCAGTATCTCACAGGTGGCGCCATGATTGCCGCTGTCCCAAAACCAGGATGAAAACGAAGTCGATTTCTCATTGGCCAAACCCAGGCACAGTTCCGCAGTAAGACACGTGTCAATTGGTACTCTTTATCCTTGCGAGTAAACTCCATTTCCCAGGTTACCCCGGGACAAATCCGGGGGCGGAACTTCAGAGGTCCACGCTGGCGCCTGCGCGTGTGGTTGAGGATGGGCTGGCGGCGGGTCCGGGTCCGCTGCCTGGCGCTGCGGGCGGCGGGCCATGGTGGTTTGGATTGAGCCGGGCCCGGCCGGGGCGCCGAGTCGGAGGGGGTGGCAGTGAGCGGCGGCAGAGGCTACGGGGCTCGGTTTGGCTGACTGGGGAGTCGGCAGGCGGCAGGTAAGGGCGAAGCCTCGGCCCTTGCTCCCCATCCTAGTCCCTTTTTCTGGGTAGGGCACTGCCCTGGGGCCTTGTCTTGAGTGCGGGTTCCTGCTCTCTCCTCGCCCCGCCCTGCGGGGCCGTGCCCTCCTCAGCCCGAGCGCACCTTCCGAGCAATCGTTACGCTCAGAGCAGGAGGGAAGGAGGTCAAGCGACCCAACTCGTCTGTTTCACAGATATGGAACCTCAGATTCAGAGACAGGGTTTGACTTGTCCAAAATGATCAAGATAGTTAAGATAGAGCCCAAACTGGAACCCACGGTTTTTGACTTCCAGTCCATCGCAGTTTCACCTCGCGGCTGTCATTGAGAAATAAAACCTTTTCCCGGTTTTTTTGTTTTGTTTTTGAGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGAGCGATCTCTGTTCACTGCAACCTCCGCCTCCCGGCATCAAGCGATTCTCCTGCCTCAGCCTCCCGCGCAGCTGGGACTTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTGTAGTTTTAGTAGTGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCTTGATCCGCCCGCCTCGGCCTTCCAAAGTGCAGGGAGTACAGGCATGAGCCACTGCCTCCGGCCTTTTCCCGGTTTTTTAAACTGCAGCTTCCAGTCCTGCGGTCCGATCCTCTTCGCGGCCCCTCATCCCCACTTCAGTAAGCTTTCTCTGGTTGAAAAAGCCGAACTCTGGTTGTGTGGGCCCGTCATCAAAAGATAAGCAGCCCCAAAATAAAGTTGTTACTCTTTTTCTTCTCAGCGTGTTAGCCCAGAAGGGAGGTCTGCACATGAATAAAATGCTACTCTTTATTGATGTTGGGTATCTCCTACTTGAGATTGCAAACATCCTGAGAGCAGCGTCTTTGTCCAGATGACATTCGCCACGACTTTGATCTCAGTTCACCTGACTTCTGATGGCTTTGCCGTCTGTCCTTCCCTGTCCCCTCAGTCGACTTTCCCATTGGGAAACAGATGTGACTTAAAGCCATGGGAAGAGGGGAGTGTTGTGGCCAGCAATCTCCTCCAGTCTGGTGGCAGATGACCAGTATGGCCTGTGACTATTACTGAAGGATCAGAGTACTCGGGCTTGTGCTTGGGGTGGTAGTAAAGCTGCGCTTTGCTCTGTTTCCTCCCGTTCACTGAGATTAGCCCCTTCTCCCCTACACACATCTTTTTGAATTTTGCTTTACTTCTATTTCTTGAGATGAAAAGTCTGGGCCAGGTGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAAGCACATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCGGTCTCTACTAAAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGGAATCCCAGCCACTCAGGAGGC
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TTTTGGTGATTCTCTCAGAATTTCTTGGTATACAACTATATTGCCTATAATCATTGACAATTTTACTTTTTTTGTTTTTTTTTGAAATGGAGTTTCACTCTTGTTGCCTAGGATGGAGTGCAAGGGTGCCATCTTGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGAAGCCTGTCACCATGCTCGGGTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCGACAATTTACTCTTTCCTCCAAAGTTATACTGCTTCCTTCTGTTTCTTATTTTATTGCACAGGCTGAAATTTCCACAAAAATGTTACATAATAGCGGCTATGCTTGTTTTCTTCTATTTTAAGTGAATACTTGCAGAGTTTTCTCTTTGAGCATGGTATTGGCTGTTGGTATAAGACAGATATTTTGAGCCTCATCTTTTATCAATCTCTCCGTTGCTCACAATGCTTCAGCTCTCCTGGCCTTCTTTCAGTTTCCCCAACTTACTAAATTCTTCCCACTTTCAGATCTCTCTTCAACCTATTCTTTCTGCCAGAGCTGCACTCTCTCCACCCACCTGACTCTTACCTACTCTTTAGATGATTCAGCTTAAATGTCACTTCTGCTGACTAGGATGGGTTTGCCTGTTACATGTTCTCAAGGTGCCCTGTAATATTCTTTCAAAGCACCACCACATATGTAACCATATGCTCATTTGAGCATTTATTTGTTTACAATTTGTGTCTGTGTCCTTTGATAGCAGAAACCAAGTCAGCGCTGTGCCTGACACATGAAAATACTCAAGTGATATCTATGAAATGAACAAACTCAGGACTGTTAAGAACATTCCCAACAATGACTGAATAGAAAGCCCCTTGAATCAGACAGCTTAAGTTACTTACTCAAAGCAGAATCAAAGTCAAGTTAGCCAGAACGTAACTGTTCTAATTCTGAATCCTCTTTCTATTGTGCTCCTTCAAATATTGCTTATATGATCCTGAGCTAATCCTGGATCTATCTCTGAAACTAGAAAGGTAGGTATTACTCACACATTCAACATTTATTGAGGAGCTGCCTTGTGCTATATACGGATGGTATGGTGGTAGGGCCTGCTTTCACGGACTTAGATTTAAGCAGGGGAGAAGTCTAGTAGGAAACATATACCTGAGTGTCTCATCATATGCTGACATAGTGCTTGGAAGAAAAGGAACAGAGTTTTTTGTGAGTCTTTAACAAAACAAACAAAAACAAAACACCCCACAAAACTCCTTTCCTCAATTAGTGGGTCCAGAAGGACTTCTCTGAGGTGATAGTAGAGAAGCTATCTAAAGGAGGTAGGAATTAAATAGGCCTAGGAAGATAGAAGCGTTCCAGATAGATGGCATGTTACAAAGGCTCTGTAGCAGGAGAAAGCTTGGCGCATTACCGACACTGAAAGAAGCTAGTATGTTATAAAAAATTTTTAAAGGGCAAGCAGAGACTGTGATTATAACTTTTAAACACAGAAAAGACAGTATGACTAGATTGCGTCAGTGAGGTGGAGATAGTGGCGCTAGATAAAGTCGGAAAGGTAAGCAACATTCATACAGTATGCAACTCACTGCTGGGCTGAGCTGGGCTGGGATGGGATACTGAGTTCGCATCTGCTTTTGTCCCAACTTCCCTCCCCGAGGGTCAGCAGCACAACCAAGCGAGATCAACACAACTAGTGTGTGGTGGCTAAGTGCACCACAGCGGCGATACGGCTAGAAGAAACTAAGAGACCAACATTGTACCACTGAGGCACTAAAGACGCGTCCGCAGTGCCCATGCCTAAGGACTGGAACTCAAGGGCAGCCTAAGGGAAAAACAGAGGGGAGATGGCATGCCGCTTCCTTTACCGCGCCATTCTCGCTGCTCTTCATCAGACAGCCGGCAAGCGACAAAAAGATGTAGCCGTGGCGGGTGTAGGTGCCGCTGCCCGGGCTGCCCTCCTCCAAGTTACACAGACGTTCGCCTGCAGAAAAAATGCTGCATCGGTCACGGGCCCCCAGAAGCTGTAGGCCGTTTAGCCTTCTTGCTTCAGCCCCTATCCAGGACTCTGTACGGGAAGCGCTCACTTACCGGGGATGCAGTATCTCACAGGTGGCGCCATGATTGCCGCTGTCCCAAAACCAGGATGAAAACGAAGTCGATTTCTCATTGGCCAAACCCAGGCACAGTTCCGCAGTAAGACACGTGTCAATTGGTACTCTTTATCCTTGCGAGTAAACTCCATTTCCCAGGTTACCCCGGGACAAATCCGGGGGCGGAACTTCAGAGGTCCACGCTGGCGCCTGCGCGTGTGGTTGAGGATGGGCTGGCGGCGGGTCCGGGTCCGCTGCCTGGCGCTGCGGGCGGCGGGCCATGGTGGTTTGGATTGAGCCGGGCCCGGCCGGGGCGCCGAGTCGGAGGGGGTGGCAGTGAGCGGCGGCAGAGGCTACGGGGCTCGGTTTGGCTGACTGGGGAGTCGGCAGGCGGCAGGTAAGGGCGAAGCCTCGGCCCTTGCTCCCCATCCTAGTCCCTTTTTCTGGGTAGGGCACTGCCCTGGGGCCTTGTCTTGAGTGCGGGTTCCTGCTCTCTCCTCGCCCCGCCCTGCGGGGCCGTGCCCTCCTCAGCCCGAGCGCACCTTCCGAGCAATCGTTACGCTCAGAGCAGGAGGGAAGGAGGTCAAGCGACCCAACTCGTCTGTTTCACAGATATGGAACCTCAGATTCAGAGACAGGGTTTGACTTGTCCAAAATGATCAAGATAGTTAAGATAGAGCCCAAACTGGAACCCACGGTTTTTGACTTCCAGTCCATCGCAGTTTCACCTCGCGGCTGTCATTGAGAAATAAAACCTTTTCCCGGTTTTTTTGTTTTGTTTTTGAGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGAGCGATCTCTGTTCACTGCAACCTCCGCCTCCCGGCATCAAGCGATTCTCCTGCCTCAGCCTCCCGCGCAGCTGGGACTTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTGTAGTTTTAGTAGTGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCTTGATCCGCCCGCCTCGGCCTTCCAAAGTGCAGGGAGTACAGGCATGAGCCACTGCCTCCGGCCTTTTCCCGGTTTTTTAAACTGCAGCTTCCAGTCCTGCGGTCCGATCCTCTTCGCGGCCCCTCATCCCCACTTCAGTAAGCTTTCTCTGGTTGAAAAAGCCGAACTCTGGTTGTGTGGGCCCGTCATCAAAAGATAAGCAGCCCCAAAATAAAGTTGTTACTCTTTTTCTTCTCAGCGTGTTAGCCCAGAAGGGAGGTCTGCACATGAATAAAATGCTACTCTTTATTGATGTTGGGTATCTCCTACTTGAGATTGCAAACATCCTGAGAGCAGCGTCTTTGTCCAGATGACATTCGCCACGACTTTGATCTCAGTTCACCTGACTTCTGATGGCTTTGCCGTCTGTCCTTCCCTGTCCCCTCAGTCGACTTTCCCATTGGGAAACAGATGTGACTTAAAGCCATGGGAAGAGGGGAGTGTTGTGGCCAGCAATCTCCTCCAGTCTGGTGGCAGATGACCAGTATGGCCTGTGACTATTACTGAAGGATCAGAGTACTCGGGCTTGTGCTTGGGGTGGTAGTAAAGCTGCGCTTTGCTCTGTTTCCTCCCGTTCACTGAGATTAGCCCCTTCTCCCCTACACACATCTTTTTGAATTTTGCTTTACTTCTATTTCTTGAGATGAAAAGTCTGGGCCAGGTGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAAGCACATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCGGTCTCTACTAAAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGGAATCCCAGCCACTCAGGAGGC
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Task1_train_14342
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The variant affects gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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CAAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGA
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CAAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGAGGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGA
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Task1_train_14343
|
Given a variant located on Chromosome 10 and affecting HOGA1 (4-hydroxy-2-oxoglutarate aldolase 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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AAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGAG
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AAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATTCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGAG
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Task1_train_14344
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Consider a variant on Chromosome 10 in gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Primary hyperoxaluria type 3
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CTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGAGGGCATGGGGTGCCCAGGAGCACAGGCTTCCGTGGATTTAGCAGGCTGTGGGCTGCACATACCCACTTGTCTGTCTCCCTCGCAACCTATGCAGGCTCCAGCTCCCATCTGATCACTCACCCACACACCAGA
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CTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCTCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGAGGGCATGGGGTGCCCAGGAGCACAGGCTTCCGTGGATTTAGCAGGCTGTGGGCTGCACATACCCACTTGTCTGTCTCCCTCGCAACCTATGCAGGCTCCAGCTCCCATCTGATCACTCACCCACACACCAGA
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Task1_train_14345
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A genomic change on Chromosome 10 affects HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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TGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGAGGGCATGGGGTGCCCAGGAGCACAGGCTTCCGTGGATTTAGCAGGCTGTGGGCTGCACATACCCACTTGTCTGTCTCCCTCGCAACCTATGCAGGCTCCAGCTCCCATCTGATCACTCACCCACACACCAGAGAGCCAGCGGGGTGTGGTAGGAAGAGCCCAGCATCTTGAGTTAGAGGACCTGGGCAAGAATCCTGCCACTTCTGC
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TGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGGGCCCAGAGCATTCACAAAAGGAGGCCATGGGAGAGTCCCTCGGGCTCAAGAAAGGCTAAAGGGATAATGAGAAAAGCAGGAAAATATGGAGAAGGTATAAATGAGGGGTTTTCACCCTCAGCATTATTGACATTTAGGGCTGGGTGATTGTTTGTTGTAGGGGACCATCCTATGCCTTGTAGGATATTTAAGCAACATTCTTGGCCTCTGCCCACTAGATGCCAGTAGTACCCATCCCCTAGTGTGACAACCAAAAGTATCTTCACACAATGCCAGTTGCCCCCATTTGAGAAGCACTGGTGGTGTCAATGAGGGTACCTTCTGTGAAAGCCTTCAGGACAGTTAACAGATTTTCTCTTGCCAACCCCCACGCCCCGTCCCGCCCCCTCCAGGCAGGAAAGACCCCGACGGACCTGGTGCAGCTCTGGCAGGCTGATACCCGGCACGCCCTGGAGCATCCTGAGCCGGGGGCTGAGCATAACGGGCTGGAGGGGCCTAATGATAGTGGGCGAGAGACCCCTCAGCCTGTGCCAGCCCAGTGAATGCGTGCCCCAGCCCAGCCAGCTACCCAGCCCCTCTCTGTGTGCAGCCGGAGGGTCCTAAGAATGGCTCCCGGAGCTAACTGAGGGCCCAGCCTTTTTTCTGCATGATCCAGGAGCACATACCACAAACTACCACAATAAAAAAGCTGTTTTTGCTAATTGCGATGTTCATTTCCACTTGTGTCTGAAATCTTTGGGAATGAAGGAAGACTGGGGGCAAATGCTGGTTTGGGGAGGAGGGAAACTGGGAGCCGGTTGGCCCTCTGAGCCAGCCCTGCAGCTTCTTTACTGTGGTCTCTTTTCCTTTCCTCCCTGCCACTCAACTTTTCCTGCCCCTTCTCACATCTCCAGGGCCAGGCTTGGCCCCTGCATGGATTGACTTGGTAATACACTCATCCTGGCCCCCTTCCTGGTGCCTGCTGTCCTGTGGGGCTGTGAGTGGCTAGCACAGGCTTGTCACGTGGCTGCCTTGGCAGGAGGAGCCTGGTAAGGGAGCGGGGCAGGGGATGGACAGCCTGTCACAGGCAGCTTCTTGCCCAGCCTTGCCACACCTCCCACAGGGCAGGACCTGCTCAGCCAATCAGCTCCACCAACCTCAGAACTGCCCGTGGAAACCTGGCTGGGCTTCTGGCTTCAGAGCTGGGAATTGTGGGAGGAGGGCCCAGATCCCACTGGAGATACCGAAGGAGATACTCTTTAGTATTGGGATCCCAGAAACCAGTCCTATATCTGGCCAGAGGGACACTGGGTTGTGGCATCTCTCTAGCTGCTACCCAGAAGGAACAGGGCCCCCTGGGGCCTATAGGCCTTGCCCCTGACCCTGGGAACACCCAGCTCAGGCCTGCCCCAGTGGCCACAAGTCAGGGAGGCCGCAAATTTTTAACTAGAAACATTGATCATTAATAGGGGGTTAGAAAGAGTTCAAACTAAGTCTCACTCTGGGACATAGACCAATTGTGCTTCAGGCCTCCTGCAGAGATGCTGGGTCCCCAAGTCTGGTCTTCTGTGAGGCAGGGGCTAAGCAGGAGCTTGTCCAGGAATGTGGGGGTCTGGGCCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGGGAAACTGGAGGAGAATCTGCACAAACTGGGCACCTTCCCCTTCCCAGGTAAGTGGGGCTGTCCTCTGTGGGACCTGGGGAGATGTGAGTGGCCCTTTAGCCAGAGACCAAGGGAGGGTACACAGGCTCTGTCAAGCTGTCCAGGGATAGTCTGGTACTCAGTGGGTCATTTTATTATGGGAGAGGAACAGGGGAGACTGGTCTGGAGTCAGGAGACAGGCAGGAAGCTCCACGCTGGCCTGTAACCTTAAGCTAAACCTCACCTGCTTCAGTTTACCCAGCTGTAAACTGTTAAAGTGCCTTTGTAGCTCCCAGAGTGATTCTGAGGTTGGACTGGATAATGGGCGTGAAAGTCCTTGTCAACCTTGTCACTTGGTGCAGATGTGAAGGCATGTGGCTGGGGTCACGTGGCAGCCCAGCCACAGTCCCAGTTCCCTCCAAAGTTTGTTTGTACATTCTCTTCTGGACAAAGCCTCCTTGCCAGAATTAGTTCTCCTGTGACCCCTTGGCTCCTGTGACTCCTGTTGTGGCTCCTGTGACCCCATCTCTCTTTACACATGGGTCTCCCCAACTCTGAGGTTAGGGACCAGATGATATTTGCAACAATCAACATGTAACAGAGTCCCAGGCACAATAAATGAAGGTAGAAGAAAATGTCAAATTCTGCCTGCCCTGCTCCGCCCATCCCCATTCCTTACTGCACAATCCCCTGAGGCAGTGCTCTCTGTAGGACCATCCCACAGATGGGAATCTGGGCCTCAGAGTGACATGGTCACTGCCCAAGGTCATTCGGCTAACACATAGCTGAGCTGAGGTTTGCACCTCGTCTGACTGCATGGCCCATGCTCCATTTTACTCCCTCGCTGACTCTCATTATAAACCCTTTGGAGCTGCTAGGCCACACTATTTCAACGGAGTGTCTGGTCAGCACTAGCTTTGTTGTGGCTGCTATTGAGGCAGTATCGTGTAGACTGTGGACTCTGGTTTCAAATCACAGCTCTGGAGTGAGCGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGAGGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGATCATACCATTGCACTCTAGCCCGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCAAATCACATCTCTGGCACTGACTTAGTGTGGGATGATTGCTGTCCCTATCGGACACATGGGAGTGATAATGCTCATATTATGGGATGGTTGGACAAAAAAATCTGAGAGAATGCAAGTGAAATCGTGCTATAAATTGTGGAGTAATATACATTGGAAGGTACTGATTCCAATGGTAATAATGATTAAAATGACAGTGTGATTGGCATTGCAGCAAAGCTGCTTTGTGACTGTGACCCCTGGCCTGATGGACACGTTGATCATTCATAGCTCAGTACTGAGGGAATGTGCCCCTTCCTTGGGGACAATGAATGCCCTGTGGAGGGCCACGTTGAGCAGGGCACAACTGTTAGGTTTCTGCTGGTGCTTGGCTCGTGGGGCCTGGAGGTTTGGTGAGGTCCTGGTTCTCTTGAAGTGAGAAGCATTTTGAGCCTCTAAGTGAAGACCTTACTTCAGCTTCAAGGTTCAAGGATGCTCTAGTTCAGGGTGGGGAGGGTGGACTTTGCATCTGGTGTTTGCCTGACACCCAGAGAATCCACAGAGACCCCCAGACTCTTCTCTGGACCCTCCCTTCTGGGCCACCCACCCACTCTTGCAGAGGGCATGGGGTGCCCAGGAGCACAGGCTTCCGTGGATTTAGCAGGCTGTGGGCTGCACATACCCACTTGTCTGTCTCCCTCGCAACCTATGCAGGCTCCAGCTCCCATCTGATCACTCACCCACACACCAGAGAGCCAGCGGGGTGTGGTAGGAAGAGCCCAGCATCTTGAGTTAGAGGACCTGGGCAAGAATCCTGCCACTTCTGC
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Task1_train_14346
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This mutation is located in gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Primary hyperoxaluria type 3
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CTGTAATCCCAGCACTTCTGGAGGCTAAGGTGGGAGGATCACCTGGGCCCAGGAATTCGAGCCAGCCTGGGCAAAATAGTGAAACTCCATCTCTACAAAAAAAACTACACAAATTAGTTGGGCATGGTAGCTCATGCCTGTAATCCTAGCTGGCTAAGACAGGAGGATCACTTGAACCTGGGGGGCTAAGGCTGCCGTGAGCCGTGATTGTGACACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCAAAGAAAAAGTAAATACATAAAAAATGTGTCACAGATGAAGGTGCACATAGCTATGACTCAGCAATTAACACACCAAAGTATCTGAACTCTAGAGGAACTCTTAGACATATGCACAGAAGACTTTACAGAAAATGTTTGTTTCAGCATTGTTTGCAATAGCAAATAGAAGAAAACATTCTTTTCTTCTTTTTTCTTTTTTGGTAGAGACAGGTAGGCCATTTTTTGGTAGAGACAGGCAGCCATGCTGCCCTGCCTGGTTTTGAACTCCTGGGCTCAAGCGATCCACCCACCTTGGCCTCCTAAAGTGCTGAAATTATAGGTGTGAGCCACCAGGCCCAGCCAAAAGAAGGAAACATTCTAAATGCTCTCAACAAGAGAATGACAAATAAATTGTGTTCTAACCTTACAACAGAATACTATACAGCAATTAAAATGAATGAATCAGGGCTACGTGTGCTTTTATGAACAAAGCTCAAAAAATAGTATTAAACAAACAGCAAACTGCAGAAGGCTATTTAAGCTTAATTCCATTTCTACAAGGCTTAAAATTGTAATAACCTTATTACATAAGGATCACTTGAGCCCAGAAGGTCGAAACTGCAGCAAGCTATGGTTGAGCCACTGCATCCCAGCCTGGGCAACAGAGTGAGACCCTGTGTCTAAAAAAGAAAAATGATGTGAACAGTCATTGCAGCTGTGTGGGAACCTTCTGTCTGCAAAGATGGGAAGGAAATGTGTGAAAGATTATGGTGTCGTAAGGTAGGAACACCAATGTCCTAGTTGTTCGGTAGAGGATGGGAAGGAGTTAGTCAGCTGTGTCTCTTGCAGGCTTCGTGGTCCAGGGCTCCAATGGCGAGTTTCCTTTCCTGACCAGCAGTGAGCGCCTCGAGGTGGTGAGCCGTGTGCGCCAGGCCATGCCCAAGAACAGGCTCCTGCTAGCTGGCTCCGGATGCGAGTGTGAGCCAGAATGCCCTGGGCCCTGGGGGTGGGTGGATGTGCAGGATCCAGGCTCCTAGGCCCTAGCTTGGGTCCTGTCTCCTTGTTCTGCCTCTTCTGGGACATGCTGAGGCACCTTCGCTTGGCCCAGTGTCCTGGTCCAGGCCTCCTTCTGCCTGCTCTCACCTCTCTCCTTCCTCTGGCAGCCACTCAAGCCACAGTGGAGATGACCGTCAGCATGGCCCAGGTCGGGGCTGACGCGGCCATGGTGGTGACCCCTTGCTACTATCGTGGCCGCATGAGCAGTGCGGCCCTCATTCACCACTACACCAAGGTGTGTGTGAGGCCTGAGACCAAGAGGAGGCTCTGCCCAGGGAGAGGAGATAAGGGAAGCTGGGAATAGGGTGGTGCTTCACATGAACGGCAGCTATAGGAAACGGGTGGACTGCCACCATGGATCAGCTGCACGACATTGGGAGGCTTACCTGACCACTCTGTGTTACTGCTTTCTCCCCTCTAAAATTGGAGGAATGATGTCATCTGTCTCATAGGGTTGCAGTGAGCATTAAATGAGATCAGGAACATAAAGGCCTTAGAACTGTGCGTGGCATATGGAAAGCACTCCATAAATATGACCCACTGTGATTGCTTACACTCGGGGCACGTAGCATGGGAGGGAGGCCTGTCCAGGTGGCCCTGTAGTGAAGCAGGCTGGGACCTGTGGGTGGGCAAGTCTCTGGCTCTTGGGACCTGGGGCGGCTGCCCTCTCCTGCTTTTCTCTGCGCCCCCCTCCCCAGGTTGCTGATCTCTCTCCAATCCCTGTGGTGCTGTACAGTGTCCCAGCCAACACAGGGCTGGACCTGCCTGTGGATGCAGTGGTCACGCTTTCCCAGCACCCGAATATTGTGGGCATGAAGGACAGCGGTGGTGATGTGAGTGGCAGCAGCTCCGGGGCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGG
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CTGTAATCCCAGCACTTCTGGAGGCTAAGGTGGGAGGATCACCTGGGCCCAGGAATTCGAGCCAGCCTGGGCAAAATAGTGAAACTCCATCTCTACAAAAAAAACTACACAAATTAGTTGGGCATGGTAGCTCATGCCTGTAATCCTAGCTGGCTAAGACAGGAGGATCACTTGAACCTGGGGGGCTAAGGCTGCCGTGAGCCGTGATTGTGACACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCAAAGAAAAAGTAAATACATAAAAAATGTGTCACAGATGAAGGTGCACATAGCTATGACTCAGCAATTAACACACCAAAGTATCTGAACTCTAGAGGAACTCTTAGACATATGCACAGAAGACTTTACAGAAAATGTTTGTTTCAGCATTGTTTGCAATAGCAAATAGAAGAAAACATTCTTTTCTTCTTTTTTCTTTTTTGGTAGAGACAGGTAGGCCATTTTTTGGTAGAGACAGGCAGCCATGCTGCCCTGCCTGGTTTTGAACTCCTGGGCTCAAGCGATCCACCCACCTTGGCCTCCTAAAGTGCTGAAATTATAGGTGTGAGCCACCAGGCCCAGCCAAAAGAAGGAAACATTCTAAATGCTCTCAACAAGAGAATGACAAATAAATTGTGTTCTAACCTTACAACAGAATACTATACAGCAATTAAAATGAATGAATCAGGGCTACGTGTGCTTTTATGAACAAAGCTCAAAAAATAGTATTAAACAAACAGCAAACTGCAGAAGGCTATTTAAGCTTAATTCCATTTCTACAAGGCTTAAAATTGTAATAACCTTATTACATAAGGATCACTTGAGCCCAGAAGGTCGAAACTGCAGCAAGCTATGGTTGAGCCACTGCATCCCAGCCTGGGCAACAGAGTGAGACCCTGTGTCTAAAAAAGAAAAATGATGTGAACAGTCATTGCAGCTGTGTGGGAACCTTCTGTCTGCAAAGATGGGAAGGAAATGTGTGAAAGATTATGGTGTCGTAAGGTAGGAACACCAATGTCCTAGTTGTTCGGTAGAGGATGGGAAGGAGTTAGTCAGCTGTGTCTCTTGCAGGCTTCGTGGTCCAGGGCTCCAATGGCGAGTTTCCTTTCCTGACCAGCAGTGAGCGCCTCGAGGTGGTGAGCCGTGTGCGCCAGGCCATGCCCAAGAACAGGCTCCTGCTAGCTGGCTCCGGATGCGAGTGTGAGCCAGAATGCCCTGGGCCCTGGGGGTGGGTGGATGTGCAGGATCCAGGCTCCTAGGCCCTAGCTTGGGTCCTGTCTCCTTGTTCTGCCTCTTCTGGGACATGCTGAGGCACCTTCGCTTGGCCCAGTGTCCTGGTCCAGGCCTCCTTCTGCCTGCTCTCACCTCTCTCCTTCCTCTGGCAGCCACTCAAGCCACAGTGGAGATGACCGTCAGCATGGCCCAGGTCGGGGCTGACGCGGCCATGGTGGTGACCCCTTGCTACTATCGTGGCCGCATGAGCAGTGCGGCCCTCATTCACCACTACACCAAGGTGTGTGTGAGGCCTGAGACCAAGAGGAGGCTCTGCCCAGGGAGAGGAGATAAGGGAAGCTGGGAATAGGGTGGTGCTTCACATGAACGGCAGCTATAGGAAACGGGTGGACTGCCACCATGGATCAGCTGCACGACATTGGGAGGCTTACCTGACCACTCTGTGTTACTGCTTTCTCCCCTCTAAAATTGGAGGAATGATGTCATCTGTCTCATAGGGTTGCAGTGAGCATTAAATGAGATCAGGAACATAAAGGCCTTAGAACTGTGCGTGGCATATGGAAAGCACTCCATAAATATGACCCACTGTGATTGCTTACACTCGGGGCACGTAGCATGGGAGGGAGGCCTGTCCAGGTGGCCCTGTAGTGAAGCAGGCTGGGACCTGTGGGTGGGCAAGTCTCTGGCTCTTGGGACCTGGGGCGGCTGCCCTCTCCTGCTTTTCTCTGCGCCCCCCTCCCCAGGTTGCTGATCTCTCTCCAATCCCTGTGGTGCTGTACAGTGTCCCAGCCAACACAGGGCTGGACCCGCCTGTGGATGCAGTGGTCACGCTTTCCCAGCACCCGAATATTGTGGGCATGAAGGACAGCGGTGGTGATGTGAGTGGCAGCAGCTCCGGGGCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGG
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Task1_train_14347
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Here’s a variant in HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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AAAATGTTTGTTTCAGCATTGTTTGCAATAGCAAATAGAAGAAAACATTCTTTTCTTCTTTTTTCTTTTTTGGTAGAGACAGGTAGGCCATTTTTTGGTAGAGACAGGCAGCCATGCTGCCCTGCCTGGTTTTGAACTCCTGGGCTCAAGCGATCCACCCACCTTGGCCTCCTAAAGTGCTGAAATTATAGGTGTGAGCCACCAGGCCCAGCCAAAAGAAGGAAACATTCTAAATGCTCTCAACAAGAGAATGACAAATAAATTGTGTTCTAACCTTACAACAGAATACTATACAGCAATTAAAATGAATGAATCAGGGCTACGTGTGCTTTTATGAACAAAGCTCAAAAAATAGTATTAAACAAACAGCAAACTGCAGAAGGCTATTTAAGCTTAATTCCATTTCTACAAGGCTTAAAATTGTAATAACCTTATTACATAAGGATCACTTGAGCCCAGAAGGTCGAAACTGCAGCAAGCTATGGTTGAGCCACTGCATCCCAGCCTGGGCAACAGAGTGAGACCCTGTGTCTAAAAAAGAAAAATGATGTGAACAGTCATTGCAGCTGTGTGGGAACCTTCTGTCTGCAAAGATGGGAAGGAAATGTGTGAAAGATTATGGTGTCGTAAGGTAGGAACACCAATGTCCTAGTTGTTCGGTAGAGGATGGGAAGGAGTTAGTCAGCTGTGTCTCTTGCAGGCTTCGTGGTCCAGGGCTCCAATGGCGAGTTTCCTTTCCTGACCAGCAGTGAGCGCCTCGAGGTGGTGAGCCGTGTGCGCCAGGCCATGCCCAAGAACAGGCTCCTGCTAGCTGGCTCCGGATGCGAGTGTGAGCCAGAATGCCCTGGGCCCTGGGGGTGGGTGGATGTGCAGGATCCAGGCTCCTAGGCCCTAGCTTGGGTCCTGTCTCCTTGTTCTGCCTCTTCTGGGACATGCTGAGGCACCTTCGCTTGGCCCAGTGTCCTGGTCCAGGCCTCCTTCTGCCTGCTCTCACCTCTCTCCTTCCTCTGGCAGCCACTCAAGCCACAGTGGAGATGACCGTCAGCATGGCCCAGGTCGGGGCTGACGCGGCCATGGTGGTGACCCCTTGCTACTATCGTGGCCGCATGAGCAGTGCGGCCCTCATTCACCACTACACCAAGGTGTGTGTGAGGCCTGAGACCAAGAGGAGGCTCTGCCCAGGGAGAGGAGATAAGGGAAGCTGGGAATAGGGTGGTGCTTCACATGAACGGCAGCTATAGGAAACGGGTGGACTGCCACCATGGATCAGCTGCACGACATTGGGAGGCTTACCTGACCACTCTGTGTTACTGCTTTCTCCCCTCTAAAATTGGAGGAATGATGTCATCTGTCTCATAGGGTTGCAGTGAGCATTAAATGAGATCAGGAACATAAAGGCCTTAGAACTGTGCGTGGCATATGGAAAGCACTCCATAAATATGACCCACTGTGATTGCTTACACTCGGGGCACGTAGCATGGGAGGGAGGCCTGTCCAGGTGGCCCTGTAGTGAAGCAGGCTGGGACCTGTGGGTGGGCAAGTCTCTGGCTCTTGGGACCTGGGGCGGCTGCCCTCTCCTGCTTTTCTCTGCGCCCCCCTCCCCAGGTTGCTGATCTCTCTCCAATCCCTGTGGTGCTGTACAGTGTCCCAGCCAACACAGGGCTGGACCTGCCTGTGGATGCAGTGGTCACGCTTTCCCAGCACCCGAATATTGTGGGCATGAAGGACAGCGGTGGTGATGTGAGTGGCAGCAGCTCCGGGGCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGGACCAGGGCTTGGGATGCCTGGAGGGGAGAGGCTCTGGCTGATGTTCTGCGTCTTACTTCGTGCAGGAGCTGTGGGGGGCGTCTGCGCCCTGGCCAATGTCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTGGCGGGGGGTGGGCAGTCTGTGTCCTCATTGGAGCAGGACCCAGGGCTGGCACCAGGCCCCACTCAGTCTCTTCCTTTCAGAAAATCCTTTGAGAGAACATCCCAGTGTGGGAACTCCTTGTGACTCCCAGAAAATCCTGACTTCGGACAA
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AAAATGTTTGTTTCAGCATTGTTTGCAATAGCAAATAGAAGAAAACATTCTTTTCTTCTTTTTTCTTTTTTGGTAGAGACAGGTAGGCCATTTTTTGGTAGAGACAGGCAGCCATGCTGCCCTGCCTGGTTTTGAACTCCTGGGCTCAAGCGATCCACCCACCTTGGCCTCCTAAAGTGCTGAAATTATAGGTGTGAGCCACCAGGCCCAGCCAAAAGAAGGAAACATTCTAAATGCTCTCAACAAGAGAATGACAAATAAATTGTGTTCTAACCTTACAACAGAATACTATACAGCAATTAAAATGAATGAATCAGGGCTACGTGTGCTTTTATGAACAAAGCTCAAAAAATAGTATTAAACAAACAGCAAACTGCAGAAGGCTATTTAAGCTTAATTCCATTTCTACAAGGCTTAAAATTGTAATAACCTTATTACATAAGGATCACTTGAGCCCAGAAGGTCGAAACTGCAGCAAGCTATGGTTGAGCCACTGCATCCCAGCCTGGGCAACAGAGTGAGACCCTGTGTCTAAAAAAGAAAAATGATGTGAACAGTCATTGCAGCTGTGTGGGAACCTTCTGTCTGCAAAGATGGGAAGGAAATGTGTGAAAGATTATGGTGTCGTAAGGTAGGAACACCAATGTCCTAGTTGTTCGGTAGAGGATGGGAAGGAGTTAGTCAGCTGTGTCTCTTGCAGGCTTCGTGGTCCAGGGCTCCAATGGCGAGTTTCCTTTCCTGACCAGCAGTGAGCGCCTCGAGGTGGTGAGCCGTGTGCGCCAGGCCATGCCCAAGAACAGGCTCCTGCTAGCTGGCTCCGGATGCGAGTGTGAGCCAGAATGCCCTGGGCCCTGGGGGTGGGTGGATGTGCAGGATCCAGGCTCCTAGGCCCTAGCTTGGGTCCTGTCTCCTTGTTCTGCCTCTTCTGGGACATGCTGAGGCACCTTCGCTTGGCCCAGTGTCCTGGTCCAGGCCTCCTTCTGCCTGCTCTCACCTCTCTCCTTCCTCTGGCAGCCACTCAAGCCACAGTGGAGATGACCGTCAGCATGGCCCAGGTCGGGGCTGACGCGGCCATGGTGGTGACCCCTTGCTACTATCGTGGCCGCATGAGCAGTGCGGCCCTCATTCACCACTACACCAAGGTGTGTGTGAGGCCTGAGACCAAGAGGAGGCTCTGCCCAGGGAGAGGAGATAAGGGAAGCTGGGAATAGGGTGGTGCTTCACATGAACGGCAGCTATAGGAAACGGGTGGACTGCCACCATGGATCAGCTGCACGACATTGGGAGGCTTACCTGACCACTCTGTGTTACTGCTTTCTCCCCTCTAAAATTGGAGGAATGATGTCATCTGTCTCATAGGGTTGCAGTGAGCATTAAATGAGATCAGGAACATAAAGGCCTTAGAACTGTGCGTGGCATATGGAAAGCACTCCATAAATATGACCCACTGTGATTGCTTACACTCGGGGCACGTAGCATGGGAGGGAGGCCTGTCCAGGTGGCCCTGTAGTGAAGCAGGCTGGGACCTGTGGGTGGGCAAGTCTCTGGCTCTTGGGACCTGGGGCGGCTGCCCTCTCCTGCTTTTCTCTGCGCCCCCCTCCCCAGGTTGCTGATCTCTCTCCAATCCCTGTGGTGCTGTACAGTGTCCCAGCCAACACAGGGCTGGACCTGCCTGTGGATGCAGTGGTCACGCTTTCCCAGCACCCGAATATTGTGGGCATGAAGGACAGCGGTGGTGATGTGAGTGGCAGCAGCTCCGGGGCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTCGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGGACCAGGGCTTGGGATGCCTGGAGGGGAGAGGCTCTGGCTGATGTTCTGCGTCTTACTTCGTGCAGGAGCTGTGGGGGGCGTCTGCGCCCTGGCCAATGTCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTGGCGGGGGGTGGGCAGTCTGTGTCCTCATTGGAGCAGGACCCAGGGCTGGCACCAGGCCCCACTCAGTCTCTTCCTTTCAGAAAATCCTTTGAGAGAACATCCCAGTGTGGGAACTCCTTGTGACTCCCAGAAAATCCTGACTTCGGACAA
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Task1_train_14348
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Located on Chromosome 10, this mutation impacts HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Primary hyperoxaluria type 3
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GCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGGACCAGGGCTTGGGATGCCTGGAGGGGAGAGGCTCTGGCTGATGTTCTGCGTCTTACTTCGTGCAGGAGCTGTGGGGGGCGTCTGCGCCCTGGCCAATGTCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTGGCGGGGGGTGGGCAGTCTGTGTCCTCATTGGAGCAGGACCCAGGGCTGGCACCAGGCCCCACTCAGTCTCTTCCTTTCAGAAAATCCTTTGAGAGAACATCCCAGTGTGGGAACTCCTTGTGACTCCCAGAAAATCCTGACTTCGGACAAAGTCGAGCACCACTGATTGTCAAACTTAAGTGTGCATTAAAATTTCCTTGGGGGCGAATTAAAGTTCCAACTTTTGGGCCCAAGAAGATGCATTGAAACAAACATCCTGTGTGATTGTGACAGAGTAACCCTAGGACCACACTTAGAGATGCCTGGAGAGAAAGAGTGTAAACCAGGGGCCTCTAAATCCGTGCTATCGGGGGCCAGGTCCTGAAAAAATAGGAATGACTGGGGCTGGCAAAGGAGTTAGAAGGCAGGAGAGTGTTGTCTTCAAATAATCGGTTCTGTGGTCAGACTGTATACCCCAATTCTTTGTTGGGCAAGCAAAGGAGAACTTCAGAGAGAACGCCCATCAAGTTCAGGGTCATTCTGAAGTCTGAGGCAACAGAAAAATATGTGCCCCTGTATTCAAGTTTTAATGTACATTTTATCCTTTCTTTCCTTCGTTCCTTTGTTCCTTCCTTCCTCCCTCCCTCCCTCCTTTCTGTCTTTCTTTCTCTTTCTCTCTTTCTTTCTTTCCTTCTTTCTTTTTTTAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGCAATCTCAGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCACACTCCTGAATAACAGAGATTACACGTGTGCACCACCATGCCCAGCTAATTTTTGTTTTTGTTTTCATTTTTCAGTAGAGATGGGGTTTCACCATATTGGCTATGCTGGTCTCAAATTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACAGTGCCCGGCCTATTCTTTTTTCTTTTCTTTTCTTTTTTGAGACATAGTCTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCCACTGCAACCTCCGCCTCCCTGGTGCGAGCAATTCTCCTGTCTCAGCTTCCCTAGTAGCTGGGATTACAGGCACGTGCCACCATACCCGGATAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTAACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAATCTTTTTTCTTTTATTTTTTTTATTTTCGAAACAGGGTCATTCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATGACAGCTCACTGCAACCTCAATGTCCTGGGCTTAAGCAATCTTTTTAATTTTTTATTTTTATTTTTGTAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTCTTTATCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCATGAGCCACCATGACTGGCCTACTGTATATTTTATATTTAACTTTTTATTTTATTTTATTTTATTTATTTATTTTGAGATGGAGTTTCACTCTGTGCCCAGGCTGGAGTGCAGTGGCACAATATTGGCTCACTGCAACCTCTGCCCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCTGCCACCACACCCGGCTAATTTTTGTGCTTTTAGTGAAGACGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAAACTTTTTATTTTTAGATAATTATAGATTCCCATGCAACTTTAAGAACTAATACAAAGGGATCCCATGTAC
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GCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGGACCAGGGCTTGGGATGCCTGGAGGGGAGAGGCTCTGGCTGATGTTCTGCGTCTTACTTCGTGCAGGAGCTGTGGGGGGCGTCTGCGCCCTGGACAATGTCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTGGCGGGGGGTGGGCAGTCTGTGTCCTCATTGGAGCAGGACCCAGGGCTGGCACCAGGCCCCACTCAGTCTCTTCCTTTCAGAAAATCCTTTGAGAGAACATCCCAGTGTGGGAACTCCTTGTGACTCCCAGAAAATCCTGACTTCGGACAAAGTCGAGCACCACTGATTGTCAAACTTAAGTGTGCATTAAAATTTCCTTGGGGGCGAATTAAAGTTCCAACTTTTGGGCCCAAGAAGATGCATTGAAACAAACATCCTGTGTGATTGTGACAGAGTAACCCTAGGACCACACTTAGAGATGCCTGGAGAGAAAGAGTGTAAACCAGGGGCCTCTAAATCCGTGCTATCGGGGGCCAGGTCCTGAAAAAATAGGAATGACTGGGGCTGGCAAAGGAGTTAGAAGGCAGGAGAGTGTTGTCTTCAAATAATCGGTTCTGTGGTCAGACTGTATACCCCAATTCTTTGTTGGGCAAGCAAAGGAGAACTTCAGAGAGAACGCCCATCAAGTTCAGGGTCATTCTGAAGTCTGAGGCAACAGAAAAATATGTGCCCCTGTATTCAAGTTTTAATGTACATTTTATCCTTTCTTTCCTTCGTTCCTTTGTTCCTTCCTTCCTCCCTCCCTCCCTCCTTTCTGTCTTTCTTTCTCTTTCTCTCTTTCTTTCTTTCCTTCTTTCTTTTTTTAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGCAATCTCAGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCACACTCCTGAATAACAGAGATTACACGTGTGCACCACCATGCCCAGCTAATTTTTGTTTTTGTTTTCATTTTTCAGTAGAGATGGGGTTTCACCATATTGGCTATGCTGGTCTCAAATTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACAGTGCCCGGCCTATTCTTTTTTCTTTTCTTTTCTTTTTTGAGACATAGTCTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCCACTGCAACCTCCGCCTCCCTGGTGCGAGCAATTCTCCTGTCTCAGCTTCCCTAGTAGCTGGGATTACAGGCACGTGCCACCATACCCGGATAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTAACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAATCTTTTTTCTTTTATTTTTTTTATTTTCGAAACAGGGTCATTCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATGACAGCTCACTGCAACCTCAATGTCCTGGGCTTAAGCAATCTTTTTAATTTTTTATTTTTATTTTTGTAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTCTTTATCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCATGAGCCACCATGACTGGCCTACTGTATATTTTATATTTAACTTTTTATTTTATTTTATTTTATTTATTTATTTTGAGATGGAGTTTCACTCTGTGCCCAGGCTGGAGTGCAGTGGCACAATATTGGCTCACTGCAACCTCTGCCCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCTGCCACCACACCCGGCTAATTTTTGTGCTTTTAGTGAAGACGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAAACTTTTTATTTTTAGATAATTATAGATTCCCATGCAACTTTAAGAACTAATACAAAGGGATCCCATGTAC
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Task1_train_14349
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Here is a variant affecting HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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GGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGGACCAGGGCTTGGGATGCCTGGAGGGGAGAGGCTCTGGCTGATGTTCTGCGTCTTACTTCGTGCAGGAGCTGTGGGGGGCGTCTGCGCCCTGGCCAATGTCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTGGCGGGGGGTGGGCAGTCTGTGTCCTCATTGGAGCAGGACCCAGGGCTGGCACCAGGCCCCACTCAGTCTCTTCCTTTCAGAAAATCCTTTGAGAGAACATCCCAGTGTGGGAACTCCTTGTGACTCCCAGAAAATCCTGACTTCGGACAAAGTCGAGCACCACTGATTGTCAAACTTAAGTGTGCATTAAAATTTCCTTGGGGGCGAATTAAAGTTCCAACTTTTGGGCCCAAGAAGATGCATTGAAACAAACATCCTGTGTGATTGTGACAGAGTAACCCTAGGACCACACTTAGAGATGCCTGGAGAGAAAGAGTGTAAACCAGGGGCCTCTAAATCCGTGCTATCGGGGGCCAGGTCCTGAAAAAATAGGAATGACTGGGGCTGGCAAAGGAGTTAGAAGGCAGGAGAGTGTTGTCTTCAAATAATCGGTTCTGTGGTCAGACTGTATACCCCAATTCTTTGTTGGGCAAGCAAAGGAGAACTTCAGAGAGAACGCCCATCAAGTTCAGGGTCATTCTGAAGTCTGAGGCAACAGAAAAATATGTGCCCCTGTATTCAAGTTTTAATGTACATTTTATCCTTTCTTTCCTTCGTTCCTTTGTTCCTTCCTTCCTCCCTCCCTCCCTCCTTTCTGTCTTTCTTTCTCTTTCTCTCTTTCTTTCTTTCCTTCTTTCTTTTTTTAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGCAATCTCAGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCACACTCCTGAATAACAGAGATTACACGTGTGCACCACCATGCCCAGCTAATTTTTGTTTTTGTTTTCATTTTTCAGTAGAGATGGGGTTTCACCATATTGGCTATGCTGGTCTCAAATTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACAGTGCCCGGCCTATTCTTTTTTCTTTTCTTTTCTTTTTTGAGACATAGTCTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCCACTGCAACCTCCGCCTCCCTGGTGCGAGCAATTCTCCTGTCTCAGCTTCCCTAGTAGCTGGGATTACAGGCACGTGCCACCATACCCGGATAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTAACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAATCTTTTTTCTTTTATTTTTTTTATTTTCGAAACAGGGTCATTCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATGACAGCTCACTGCAACCTCAATGTCCTGGGCTTAAGCAATCTTTTTAATTTTTTATTTTTATTTTTGTAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTCTTTATCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCATGAGCCACCATGACTGGCCTACTGTATATTTTATATTTAACTTTTTATTTTATTTTATTTTATTTATTTATTTTGAGATGGAGTTTCACTCTGTGCCCAGGCTGGAGTGCAGTGGCACAATATTGGCTCACTGCAACCTCTGCCCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCTGCCACCACACCCGGCTAATTTTTGTGCTTTTAGTGAAGACGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAAACTTTTTATTTTTAGATAATTATAGATTCCCATGCAACTTTAAGAACTAATACAAAGGGATCCCATGTACCCATG
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GGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCTTGGGTAGGCCGCCCACTGCTCTCAAATTGTCATGGGTGACCAAGAGATACCCAGGTACCTGGGTCTTCCGGGAGAGATCGTGAGGGCTGGGGCTGGGTCTGCAGATGGTAGTTTGCCAGCCTGCCCACTCTGAAAACTCAGAAACCTGGCCACGCCGCTTACCTGTCTGAATTCGGGATGCTGTGAGTAACCTTGTTGGCTGAAGGAGGATGGCCGTGTACAATCCCTGGCCTGTAGTAGGGATGCCTGCAGTTTGTTCTGAGTCCTGAGCTCCATGATTAGATGACAAACTTAGCTGCTCTAATCCCACCTTGTACATCATTCTCTGAGGGCAGAGGCCCTGGGGCCCTCCTCTGTAGTTCAGGAGTCCATTTTCCTCTCCCCTGTCCCAGACCAGAATGAATTGTCAGATCTACAGAGTTGAGCCAGGGATCTTCAGTTGCCTGATCAGATTCTGTTCCAATCCAGGATCCCTAGGAATGTCACTTAGATCAACTGCTCTTGTCTGTTTGGGGTCAGGGTCCTTGGGTTTGGATTAGATTTGAGCCCTGGAGGGAAGGGAGAAGAAGGGAAGCTGTTCCCTTCAGCTGAAGCCCCAGTGAGTAGAGATTTGAGGGACTTTTCCAGCACTGCAGGGGAGAATGCTTGTTCCTATTCCATCTGGTCCCTCCAGACTTTGGCTGGTTGTCTAGGCCTTTGTACATCTCCCCTGCCATGTCATGGCCTCTACGGTGAAGGGGAAGAAGAAGGGATCCATTTCTCCCTCATTCCTGGAAGTGGAGTAGATTAAAAATAAAAAAAAAAGCACAGGCTCTGGAGGCTGGGGGGAATCTCAGCTCTGCAGTTTATTCACTGAGTAATGCTGGGCAAAGCACTCACCTCTCTGGGCCTGAGTTTCTACTCTGTGTACAGAGGGATCATGAGGATTAGAGAGCATCAGGGCCATGCTGCTGTAGCGCGCCTGGGACACATAGTAGGTATTCCACAAACAACAGCTCTATTAGCTCATTCTGAATTGCCTACTCTCTCTACGGTTTTGAGGCCACTGTGCCTAGGGTTCCACTCCTATCTAGCCTTAGAAGCATACTTACAGGCTTGCAGAAGTGGCGGGGGTTTCTGAGATCACAGCCAAACCCATTTTCATTGCCCCGATGGGCACAAAGAGGACTAGAGAGGGTCTCATTCAGGTTTATGCAGTCAATGGGAAGACATGCCTGGTGACCTGACTCTGTCCAGAGTGCTTTCCATGCCCACTGCTGTCTCTGGTTGCATCCACTGGGGGGAATAAAATTTCAAAAGAGCAAAGGCTTCCCATCCGTCCTACCCTCTTACAGGACTGATGAGTCAGGGGGCTATTGGAGGAAGCTGGAGGTGTCAACTGTCAGATGGGATTTTATTCCGGGAGGGGTTCAGGGAAGGAACCGTCCTTGAGTTCACTTTCAGGCTCTGCTCCCTGCCCCTCACAGATCAGCCCTGAGCAGTGCTTGACCTGCGGGATTCTATTTTGAATATGCAGGCAGCTCTTCTCTCTGGAAATGTATACTCTGGACTCACAGAGCATGCCTTTGATGTAGCCAGCCAAGTGACATAGAAATCTGTATCTAATGTCCCCAGGCTGAAGAGGTGCTGGGACCAGGGCTTGGGATGCCTGGAGGGGAGAGGCTCTGGCTGATGTTCTGCGTCTTACTTCGTGCAGGAGCTGTGGGGGGCGTCTGCGCCCTGGCCAATATCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTGGCGGGGGGTGGGCAGTCTGTGTCCTCATTGGAGCAGGACCCAGGGCTGGCACCAGGCCCCACTCAGTCTCTTCCTTTCAGAAAATCCTTTGAGAGAACATCCCAGTGTGGGAACTCCTTGTGACTCCCAGAAAATCCTGACTTCGGACAAAGTCGAGCACCACTGATTGTCAAACTTAAGTGTGCATTAAAATTTCCTTGGGGGCGAATTAAAGTTCCAACTTTTGGGCCCAAGAAGATGCATTGAAACAAACATCCTGTGTGATTGTGACAGAGTAACCCTAGGACCACACTTAGAGATGCCTGGAGAGAAAGAGTGTAAACCAGGGGCCTCTAAATCCGTGCTATCGGGGGCCAGGTCCTGAAAAAATAGGAATGACTGGGGCTGGCAAAGGAGTTAGAAGGCAGGAGAGTGTTGTCTTCAAATAATCGGTTCTGTGGTCAGACTGTATACCCCAATTCTTTGTTGGGCAAGCAAAGGAGAACTTCAGAGAGAACGCCCATCAAGTTCAGGGTCATTCTGAAGTCTGAGGCAACAGAAAAATATGTGCCCCTGTATTCAAGTTTTAATGTACATTTTATCCTTTCTTTCCTTCGTTCCTTTGTTCCTTCCTTCCTCCCTCCCTCCCTCCTTTCTGTCTTTCTTTCTCTTTCTCTCTTTCTTTCTTTCCTTCTTTCTTTTTTTAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGCAATCTCAGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCACACTCCTGAATAACAGAGATTACACGTGTGCACCACCATGCCCAGCTAATTTTTGTTTTTGTTTTCATTTTTCAGTAGAGATGGGGTTTCACCATATTGGCTATGCTGGTCTCAAATTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACAGTGCCCGGCCTATTCTTTTTTCTTTTCTTTTCTTTTTTGAGACATAGTCTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCCACTGCAACCTCCGCCTCCCTGGTGCGAGCAATTCTCCTGTCTCAGCTTCCCTAGTAGCTGGGATTACAGGCACGTGCCACCATACCCGGATAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTAACCTCAAGTGATCCTCCTGCCTCGGCCTCCCAATCTTTTTTCTTTTATTTTTTTTATTTTCGAAACAGGGTCATTCTCTGTCACCCAGGCTAGAGTACAGTGGTGTGATGACAGCTCACTGCAACCTCAATGTCCTGGGCTTAAGCAATCTTTTTAATTTTTTATTTTTATTTTTGTAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTCTTTATCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAATGCTGAGATTACAGGCATGAGCCACCATGACTGGCCTACTGTATATTTTATATTTAACTTTTTATTTTATTTTATTTTATTTATTTATTTTGAGATGGAGTTTCACTCTGTGCCCAGGCTGGAGTGCAGTGGCACAATATTGGCTCACTGCAACCTCTGCCCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCTGCCACCACACCCGGCTAATTTTTGTGCTTTTAGTGAAGACGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAAACTTTTTATTTTTAGATAATTATAGATTCCCATGCAACTTTAAGAACTAATACAAAGGGATCCCATGTACCCATG
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Task1_train_14350
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Here is a genetic alteration in HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Primary hyperoxaluria type 3
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ATTCTGTGTCCTCTCCTGTGCCAGCTCTGGGCACATACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGGACTCTAGTGGTAAAGTTATTAGTCAATCTTTCATCAGTGGTTCCTGGCCTTTTTATCCCAAACAACCTTTTATTTTTATCCTCCTAAGGTTTTAGCTTCTCTCCAAATAAAACTTTCTTAAGGACTACTTTTGTAGTTTTTAGGTAGTGAAAGATTCATCTAATATTTCTGATCAGCATGAAATAACCAGTTGCTATACCAAAAGCAAGGAAATTTGATGCTTCATTTATTCTGTAATATTCCATACACGATTTTAAATTATAATAGGCCAGGCGCCGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGTGACTAGCCTGAGCAACATAGCAAGACCTCGTCTCTACAAAAAATGCAAAAATTAGCCAGGCATGCTGTCATGCACCTGAAGTCCAAGGTGCTGTGGAGGCTGAGGTGGGAGAATCGATTGAGCCCAGGAGGTCTAGGCTACAGTGAGCCATGATCATACCACTGCACTCTAGCCTGAGTGGCACAGTGAGACCCTGTCTCAAAAACATAAACATAAAATAAAAATAAATAAATTATTACGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAGCCCTGTCTCTACTAAAAATACAAAAATAAAATAAAATAAAACGAGCTTGGTGTGGTGGCAGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAATGAGCTGAGATCAGGACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCTTTAGGTCCCCCATTATCAGGGAAAAGCCTTTAGAGATCATGTTGTCCAGCCCCTTCCTTTTTTAGACAGGAGAACTTACTCAGAGATAATAAGTAAATGACATACAGTTTATACAACAAAACTTCCTTGGGAAATGATGCTTTGCTTTTCCTGGGAGACCATTTAGTGTTAGGGTCAGGAGGAGCTATGGGGAGGTGAGGGCAGCCAGATGCAAGGGGAGTAGAGGTCTGGGCTGTGCCTGAGACTCTCACAGATCCTTCCCCTTCCTGACTTCCCAGGTCTGGTGTGACCTGCGTCAGGTTTCAGGGAGCTGGGCTGCAGACTGCTGATGCTCTAGTGCCTAGACCTGCAGCCTTGCTGTCTTCTCCCACCCCAGCTTGAGGACCAAATACCACTCTCCTCTCTGTTGGAGTGGATTTTTCTCCTAAAACCAAAGGAGGCACTCTTCTTCCCCAATCTGAAGTTTTTGTATTTTGCTATTACAGACCTGCTCTCTGGTCTCTAAATCTGGATTCCCAATGTACCCTGGGTGCCATAGAGTTGGCAGTTACTTTCCTGGGGGAAGAGGGTAGGACTTCAATGTTCTGAAAGTGACAGATCTCCGAGTTCCAGATATGGGTGTTCAGCAAATTTCTCAGTCTCTTCTAACAGGCCCTGCTTTGCAGGTGACCCGGCGCTTTGGGATCCCAGGGCTGAAGAAAATCATGGACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTGAGGAGGAGGCACTGCGCATGGATTTCACCAGCAACGGCTGGCTCTGAGGGCAGGCAGGGTCCATGGCTGGCCTGAGCCCATCTCAGCCTCCTGCCTTGCACTTGCAGCCTGAAGCGGAGAGCACAGGGGGATGAGGGTGGCAGGCAGCGGGGAGCCGATAGAGGCTCCTTTGCCTGCTGTGGTCCTCCAGGCAGCCTTTCACAGGCACGCCCATGCATATCTCCTATTCTAACGGCCCCTGACCTCTCCCTTTTGGATCCTAAACTGTGTCTCTGGTCTGAAGACTGGGAAGGAGCAATTTCTCAATTTATCTTTCTACTGTGGATGCTTTCCTACGCCCTGAGGCACATGAAGTCAGAAAGGAAGGGCAGAGGGGCAAGTAGGCACAGTAAGGGAATTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCCGGCCGGGAATTTATCAAAGGGGGGACTACTTAGATTTGGGGCTTCAAACCTGAGTCTAGCACAATGCAGCTGGAGGCCAGGGCTACTCCTACAAACCCAAGTTCTGACTCCTTCCAGGGAAGTATCAGCTTAAGAAACTTGATCAGGAAAGTGACACTGGTCTTTCAAAGAGCCCTCTTTACCCTCCCATCCCTGCCCTCCACACTGCAAGCTGCATTCCAGCCACAACGCCCTTTTCTAAATCTATTTTCATTCATCTCCTATTCTGGTCTGTAGCCTTGATTCCAACCATTGAATGCACGGAGACAGCCCAGTGGCTTGTCAGATTGGTAAATAATGACACCTGGTGGATAAATGTTACATTCTAGAAGACTATTCTGGTCAGCCTAGGTCTGAAACACTAAGGAGACTTGGCCTGAGATAGGGCCATCCACTTGCCTACAGGCACTCTGCTTTTATTATTAAAAATAGTCACTTTGTTACTATAATAAAATTTAACAGAAAAAATTAGTGTGGCTATATAAAGATGGACACTCTATTGCTATGCAGATCTTAGGTTTCCTGGCCAGATGTCAAGAACCTTTCTAAAGGCAAAAGAGCTCTGATGGTCTGCCTTCTCCCAGCTCGAAGAGTGTCCCCAGCAATACTGAGCCAACAGGCATTCACTTACTGGAGACCTGGGGAAGGGGTAAGAGGCAAAAGAGAGCAAGTGAGCTATTTAGAAACAAACACTTAGCACTTTTATTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCATTCAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTACAACCTCTGCCTCCCAGATTCAAGTGACTCCCCTGCCTCACCCTCCCGAGTAGCTGGAATTACAGGTGTTCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCCTTCAGCATCCTTTTTGATTAAAGTGCTAAGTGTTTAGGGCCAGGCAGCACTTTGGGAGGCGGAGGCAGGAGGATCACATGAGGTCAAGAGTTTGAGACCAGCCTGATCAACACGGCAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACGTGGGAGGTGGAGG
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ATTCTGTGTCCTCTCCTGTGCCAGCTCTGGGCACATACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGGACTCTAGTGGTAAAGTTATTAGTCAATCTTTCATCAGTGGTTCCTGGCCTTTTTATCCCAAACAACCTTTTATTTTTATCCTCCTAAGGTTTTAGCTTCTCTCCAAATAAAACTTTCTTAAGGACTACTTTTGTAGTTTTTAGGTAGTGAAAGATTCATCTAATATTTCTGATCAGCATGAAATAACCAGTTGCTATACCAAAAGCAAGGAAATTTGATGCTTCATTTATTCTGTAATATTCCATACACGATTTTAAATTATAATAGGCCAGGCGCCGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGTGACTAGCCTGAGCAACATAGCAAGACCTCGTCTCTACAAAAAATGCAAAAATTAGCCAGGCATGCTGTCATGCACCTGAAGTCCAAGGTGCTGTGGAGGCTGAGGTGGGAGAATCGATTGAGCCCAGGAGGTCTAGGCTACAGTGAGCCATGATCATACCACTGCACTCTAGCCTGAGTGGCACAGTGAGACCCTGTCTCAAAAACATAAACATAAAATAAAAATAAATAAATTATTACGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAGCCCTGTCTCTACTAAAAATACAAAAATAAAATAAAATAAAACGAGCTTGGTGTGGTGGCAGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAATGAGCTGAGATCAGGACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCTTTAGGTCCCCCATTATCAGGGAAAAGCCTTTAGAGATCATGTTGTCCAGCCCCTTCCTTTTTTAGACAGGAGAACTTACTCAGAGATAATAAGTAAATGACATACAGTTTATACAACAAAACTTCCTTGGGAAATGATGCTTTGCTTTTCCTGGGAGACCATTTAGTGTTAGGGTCAGGAGGAGCTATGGGGAGGTGAGGGCAGCCAGATGCAAGGGGAGTAGAGGTCTGGGCTGTGCCTGAGACTCTCACAGATCCTTCCCCTTCCTGACTTCCCAGGTCTGGTGTGACCTGCGTCAGGTTTCAGGGAGCTGGGCTGCAGACTGCTGATGCTCTAGTGCCTAGACCTGCAGCCTTGCTGTCTTCTCCCACCCCAGCTTGAGGACCAAATACCACTCTCCTCTCTGTTGGAGTGGATTTTTCTCCTAAAACCAAAGGAGGCACTCTTCTTCCCCAATCTGAAGTTTTTGTATTTTGCTATTACAGACCTGCTCTCTGGTCTCTAAATCTGGATTCCCAATGTACCCTGGGTGCCATAGAGTTGGCAGTTACTTTCCTGGGGGAAGAGGGTAGGACTTCAATGTTCTGAAAGTGACAGATCTCCGAGTTCCAGATATGGGTGTTCAGCAAATTTCTCAGTCTCTTCTAACAGGCCCTGCTTTGCAGGTGATCCGGCGCTTTGGGATCCCAGGGCTGAAGAAAATCATGGACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTGAGGAGGAGGCACTGCGCATGGATTTCACCAGCAACGGCTGGCTCTGAGGGCAGGCAGGGTCCATGGCTGGCCTGAGCCCATCTCAGCCTCCTGCCTTGCACTTGCAGCCTGAAGCGGAGAGCACAGGGGGATGAGGGTGGCAGGCAGCGGGGAGCCGATAGAGGCTCCTTTGCCTGCTGTGGTCCTCCAGGCAGCCTTTCACAGGCACGCCCATGCATATCTCCTATTCTAACGGCCCCTGACCTCTCCCTTTTGGATCCTAAACTGTGTCTCTGGTCTGAAGACTGGGAAGGAGCAATTTCTCAATTTATCTTTCTACTGTGGATGCTTTCCTACGCCCTGAGGCACATGAAGTCAGAAAGGAAGGGCAGAGGGGCAAGTAGGCACAGTAAGGGAATTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCCGGCCGGGAATTTATCAAAGGGGGGACTACTTAGATTTGGGGCTTCAAACCTGAGTCTAGCACAATGCAGCTGGAGGCCAGGGCTACTCCTACAAACCCAAGTTCTGACTCCTTCCAGGGAAGTATCAGCTTAAGAAACTTGATCAGGAAAGTGACACTGGTCTTTCAAAGAGCCCTCTTTACCCTCCCATCCCTGCCCTCCACACTGCAAGCTGCATTCCAGCCACAACGCCCTTTTCTAAATCTATTTTCATTCATCTCCTATTCTGGTCTGTAGCCTTGATTCCAACCATTGAATGCACGGAGACAGCCCAGTGGCTTGTCAGATTGGTAAATAATGACACCTGGTGGATAAATGTTACATTCTAGAAGACTATTCTGGTCAGCCTAGGTCTGAAACACTAAGGAGACTTGGCCTGAGATAGGGCCATCCACTTGCCTACAGGCACTCTGCTTTTATTATTAAAAATAGTCACTTTGTTACTATAATAAAATTTAACAGAAAAAATTAGTGTGGCTATATAAAGATGGACACTCTATTGCTATGCAGATCTTAGGTTTCCTGGCCAGATGTCAAGAACCTTTCTAAAGGCAAAAGAGCTCTGATGGTCTGCCTTCTCCCAGCTCGAAGAGTGTCCCCAGCAATACTGAGCCAACAGGCATTCACTTACTGGAGACCTGGGGAAGGGGTAAGAGGCAAAAGAGAGCAAGTGAGCTATTTAGAAACAAACACTTAGCACTTTTATTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCATTCAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTACAACCTCTGCCTCCCAGATTCAAGTGACTCCCCTGCCTCACCCTCCCGAGTAGCTGGAATTACAGGTGTTCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCCTTCAGCATCCTTTTTGATTAAAGTGCTAAGTGTTTAGGGCCAGGCAGCACTTTGGGAGGCGGAGGCAGGAGGATCACATGAGGTCAAGAGTTTGAGACCAGCCTGATCAACACGGCAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACGTGGGAGGTGGAGG
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Task1_train_14351
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Here is a variant affecting HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Primary hyperoxaluria type 3
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ACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGGACTCTAGTGGTAAAGTTATTAGTCAATCTTTCATCAGTGGTTCCTGGCCTTTTTATCCCAAACAACCTTTTATTTTTATCCTCCTAAGGTTTTAGCTTCTCTCCAAATAAAACTTTCTTAAGGACTACTTTTGTAGTTTTTAGGTAGTGAAAGATTCATCTAATATTTCTGATCAGCATGAAATAACCAGTTGCTATACCAAAAGCAAGGAAATTTGATGCTTCATTTATTCTGTAATATTCCATACACGATTTTAAATTATAATAGGCCAGGCGCCGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGTGACTAGCCTGAGCAACATAGCAAGACCTCGTCTCTACAAAAAATGCAAAAATTAGCCAGGCATGCTGTCATGCACCTGAAGTCCAAGGTGCTGTGGAGGCTGAGGTGGGAGAATCGATTGAGCCCAGGAGGTCTAGGCTACAGTGAGCCATGATCATACCACTGCACTCTAGCCTGAGTGGCACAGTGAGACCCTGTCTCAAAAACATAAACATAAAATAAAAATAAATAAATTATTACGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAGCCCTGTCTCTACTAAAAATACAAAAATAAAATAAAATAAAACGAGCTTGGTGTGGTGGCAGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAATGAGCTGAGATCAGGACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCTTTAGGTCCCCCATTATCAGGGAAAAGCCTTTAGAGATCATGTTGTCCAGCCCCTTCCTTTTTTAGACAGGAGAACTTACTCAGAGATAATAAGTAAATGACATACAGTTTATACAACAAAACTTCCTTGGGAAATGATGCTTTGCTTTTCCTGGGAGACCATTTAGTGTTAGGGTCAGGAGGAGCTATGGGGAGGTGAGGGCAGCCAGATGCAAGGGGAGTAGAGGTCTGGGCTGTGCCTGAGACTCTCACAGATCCTTCCCCTTCCTGACTTCCCAGGTCTGGTGTGACCTGCGTCAGGTTTCAGGGAGCTGGGCTGCAGACTGCTGATGCTCTAGTGCCTAGACCTGCAGCCTTGCTGTCTTCTCCCACCCCAGCTTGAGGACCAAATACCACTCTCCTCTCTGTTGGAGTGGATTTTTCTCCTAAAACCAAAGGAGGCACTCTTCTTCCCCAATCTGAAGTTTTTGTATTTTGCTATTACAGACCTGCTCTCTGGTCTCTAAATCTGGATTCCCAATGTACCCTGGGTGCCATAGAGTTGGCAGTTACTTTCCTGGGGGAAGAGGGTAGGACTTCAATGTTCTGAAAGTGACAGATCTCCGAGTTCCAGATATGGGTGTTCAGCAAATTTCTCAGTCTCTTCTAACAGGCCCTGCTTTGCAGGTGACCCGGCGCTTTGGGATCCCAGGGCTGAAGAAAATCATGGACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTGAGGAGGAGGCACTGCGCATGGATTTCACCAGCAACGGCTGGCTCTGAGGGCAGGCAGGGTCCATGGCTGGCCTGAGCCCATCTCAGCCTCCTGCCTTGCACTTGCAGCCTGAAGCGGAGAGCACAGGGGGATGAGGGTGGCAGGCAGCGGGGAGCCGATAGAGGCTCCTTTGCCTGCTGTGGTCCTCCAGGCAGCCTTTCACAGGCACGCCCATGCATATCTCCTATTCTAACGGCCCCTGACCTCTCCCTTTTGGATCCTAAACTGTGTCTCTGGTCTGAAGACTGGGAAGGAGCAATTTCTCAATTTATCTTTCTACTGTGGATGCTTTCCTACGCCCTGAGGCACATGAAGTCAGAAAGGAAGGGCAGAGGGGCAAGTAGGCACAGTAAGGGAATTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCCGGCCGGGAATTTATCAAAGGGGGGACTACTTAGATTTGGGGCTTCAAACCTGAGTCTAGCACAATGCAGCTGGAGGCCAGGGCTACTCCTACAAACCCAAGTTCTGACTCCTTCCAGGGAAGTATCAGCTTAAGAAACTTGATCAGGAAAGTGACACTGGTCTTTCAAAGAGCCCTCTTTACCCTCCCATCCCTGCCCTCCACACTGCAAGCTGCATTCCAGCCACAACGCCCTTTTCTAAATCTATTTTCATTCATCTCCTATTCTGGTCTGTAGCCTTGATTCCAACCATTGAATGCACGGAGACAGCCCAGTGGCTTGTCAGATTGGTAAATAATGACACCTGGTGGATAAATGTTACATTCTAGAAGACTATTCTGGTCAGCCTAGGTCTGAAACACTAAGGAGACTTGGCCTGAGATAGGGCCATCCACTTGCCTACAGGCACTCTGCTTTTATTATTAAAAATAGTCACTTTGTTACTATAATAAAATTTAACAGAAAAAATTAGTGTGGCTATATAAAGATGGACACTCTATTGCTATGCAGATCTTAGGTTTCCTGGCCAGATGTCAAGAACCTTTCTAAAGGCAAAAGAGCTCTGATGGTCTGCCTTCTCCCAGCTCGAAGAGTGTCCCCAGCAATACTGAGCCAACAGGCATTCACTTACTGGAGACCTGGGGAAGGGGTAAGAGGCAAAAGAGAGCAAGTGAGCTATTTAGAAACAAACACTTAGCACTTTTATTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCATTCAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTACAACCTCTGCCTCCCAGATTCAAGTGACTCCCCTGCCTCACCCTCCCGAGTAGCTGGAATTACAGGTGTTCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCCTTCAGCATCCTTTTTGATTAAAGTGCTAAGTGTTTAGGGCCAGGCAGCACTTTGGGAGGCGGAGGCAGGAGGATCACATGAGGTCAAGAGTTTGAGACCAGCCTGATCAACACGGCAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACGTGGGAGGTGGAGGTTGCAATGGGCCGAGATCGTGTCATGGCACTCCAGC
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ACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGGACTCTAGTGGTAAAGTTATTAGTCAATCTTTCATCAGTGGTTCCTGGCCTTTTTATCCCAAACAACCTTTTATTTTTATCCTCCTAAGGTTTTAGCTTCTCTCCAAATAAAACTTTCTTAAGGACTACTTTTGTAGTTTTTAGGTAGTGAAAGATTCATCTAATATTTCTGATCAGCATGAAATAACCAGTTGCTATACCAAAAGCAAGGAAATTTGATGCTTCATTTATTCTGTAATATTCCATACACGATTTTAAATTATAATAGGCCAGGCGCCGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGTGACTAGCCTGAGCAACATAGCAAGACCTCGTCTCTACAAAAAATGCAAAAATTAGCCAGGCATGCTGTCATGCACCTGAAGTCCAAGGTGCTGTGGAGGCTGAGGTGGGAGAATCGATTGAGCCCAGGAGGTCTAGGCTACAGTGAGCCATGATCATACCACTGCACTCTAGCCTGAGTGGCACAGTGAGACCCTGTCTCAAAAACATAAACATAAAATAAAAATAAATAAATTATTACGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAGCCCTGTCTCTACTAAAAATACAAAAATAAAATAAAATAAAACGAGCTTGGTGTGGTGGCAGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAATGAGCTGAGATCAGGACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCTTTAGGTCCCCCATTATCAGGGAAAAGCCTTTAGAGATCATGTTGTCCAGCCCCTTCCTTTTTTAGACAGGAGAACTTACTCAGAGATAATAAGTAAATGACATACAGTTTATACAACAAAACTTCCTTGGGAAATGATGCTTTGCTTTTCCTGGGAGACCATTTAGTGTTAGGGTCAGGAGGAGCTATGGGGAGGTGAGGGCAGCCAGATGCAAGGGGAGTAGAGGTCTGGGCTGTGCCTGAGACTCTCACAGATCCTTCCCCTTCCTGACTTCCCAGGTCTGGTGTGACCTGCGTCAGGTTTCAGGGAGCTGGGCTGCAGACTGCTGATGCTCTAGTGCCTAGACCTGCAGCCTTGCTGTCTTCTCCCACCCCAGCTTGAGGACCAAATACCACTCTCCTCTCTGTTGGAGTGGATTTTTCTCCTAAAACCAAAGGAGGCACTCTTCTTCCCCAATCTGAAGTTTTTGTATTTTGCTATTACAGACCTGCTCTCTGGTCTCTAAATCTGGATTCCCAATGTACCCTGGGTGCCATAGAGTTGGCAGTTACTTTCCTGGGGGAAGAGGGTAGGACTTCAATGTTCTGAAAGTGACAGATCTCCGAGTTCCAGATATGGGTGTTCAGCAAATTTCTCAGTCTCTTCTAACAGGCCCTGCTTTGCAGGTGACCCGGCGCTTTGGGATCCCAGGGCTGAAGAAAATCACGGACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTGAGGAGGAGGCACTGCGCATGGATTTCACCAGCAACGGCTGGCTCTGAGGGCAGGCAGGGTCCATGGCTGGCCTGAGCCCATCTCAGCCTCCTGCCTTGCACTTGCAGCCTGAAGCGGAGAGCACAGGGGGATGAGGGTGGCAGGCAGCGGGGAGCCGATAGAGGCTCCTTTGCCTGCTGTGGTCCTCCAGGCAGCCTTTCACAGGCACGCCCATGCATATCTCCTATTCTAACGGCCCCTGACCTCTCCCTTTTGGATCCTAAACTGTGTCTCTGGTCTGAAGACTGGGAAGGAGCAATTTCTCAATTTATCTTTCTACTGTGGATGCTTTCCTACGCCCTGAGGCACATGAAGTCAGAAAGGAAGGGCAGAGGGGCAAGTAGGCACAGTAAGGGAATTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCCGGCCGGGAATTTATCAAAGGGGGGACTACTTAGATTTGGGGCTTCAAACCTGAGTCTAGCACAATGCAGCTGGAGGCCAGGGCTACTCCTACAAACCCAAGTTCTGACTCCTTCCAGGGAAGTATCAGCTTAAGAAACTTGATCAGGAAAGTGACACTGGTCTTTCAAAGAGCCCTCTTTACCCTCCCATCCCTGCCCTCCACACTGCAAGCTGCATTCCAGCCACAACGCCCTTTTCTAAATCTATTTTCATTCATCTCCTATTCTGGTCTGTAGCCTTGATTCCAACCATTGAATGCACGGAGACAGCCCAGTGGCTTGTCAGATTGGTAAATAATGACACCTGGTGGATAAATGTTACATTCTAGAAGACTATTCTGGTCAGCCTAGGTCTGAAACACTAAGGAGACTTGGCCTGAGATAGGGCCATCCACTTGCCTACAGGCACTCTGCTTTTATTATTAAAAATAGTCACTTTGTTACTATAATAAAATTTAACAGAAAAAATTAGTGTGGCTATATAAAGATGGACACTCTATTGCTATGCAGATCTTAGGTTTCCTGGCCAGATGTCAAGAACCTTTCTAAAGGCAAAAGAGCTCTGATGGTCTGCCTTCTCCCAGCTCGAAGAGTGTCCCCAGCAATACTGAGCCAACAGGCATTCACTTACTGGAGACCTGGGGAAGGGGTAAGAGGCAAAAGAGAGCAAGTGAGCTATTTAGAAACAAACACTTAGCACTTTTATTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCATTCAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTACAACCTCTGCCTCCCAGATTCAAGTGACTCCCCTGCCTCACCCTCCCGAGTAGCTGGAATTACAGGTGTTCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCCTTCAGCATCCTTTTTGATTAAAGTGCTAAGTGTTTAGGGCCAGGCAGCACTTTGGGAGGCGGAGGCAGGAGGATCACATGAGGTCAAGAGTTTGAGACCAGCCTGATCAACACGGCAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACGTGGGAGGTGGAGGTTGCAATGGGCCGAGATCGTGTCATGGCACTCCAGC
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Task1_train_14352
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Consider this mutation in HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Primary hyperoxaluria type 3
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CACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGGACTCTAGTGGTAAAGTTATTAGTCAATCTTTCATCAGTGGTTCCTGGCCTTTTTATCCCAAACAACCTTTTATTTTTATCCTCCTAAGGTTTTAGCTTCTCTCCAAATAAAACTTTCTTAAGGACTACTTTTGTAGTTTTTAGGTAGTGAAAGATTCATCTAATATTTCTGATCAGCATGAAATAACCAGTTGCTATACCAAAAGCAAGGAAATTTGATGCTTCATTTATTCTGTAATATTCCATACACGATTTTAAATTATAATAGGCCAGGCGCCGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGTGACTAGCCTGAGCAACATAGCAAGACCTCGTCTCTACAAAAAATGCAAAAATTAGCCAGGCATGCTGTCATGCACCTGAAGTCCAAGGTGCTGTGGAGGCTGAGGTGGGAGAATCGATTGAGCCCAGGAGGTCTAGGCTACAGTGAGCCATGATCATACCACTGCACTCTAGCCTGAGTGGCACAGTGAGACCCTGTCTCAAAAACATAAACATAAAATAAAAATAAATAAATTATTACGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAGCCCTGTCTCTACTAAAAATACAAAAATAAAATAAAATAAAACGAGCTTGGTGTGGTGGCAGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAATGAGCTGAGATCAGGACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCTTTAGGTCCCCCATTATCAGGGAAAAGCCTTTAGAGATCATGTTGTCCAGCCCCTTCCTTTTTTAGACAGGAGAACTTACTCAGAGATAATAAGTAAATGACATACAGTTTATACAACAAAACTTCCTTGGGAAATGATGCTTTGCTTTTCCTGGGAGACCATTTAGTGTTAGGGTCAGGAGGAGCTATGGGGAGGTGAGGGCAGCCAGATGCAAGGGGAGTAGAGGTCTGGGCTGTGCCTGAGACTCTCACAGATCCTTCCCCTTCCTGACTTCCCAGGTCTGGTGTGACCTGCGTCAGGTTTCAGGGAGCTGGGCTGCAGACTGCTGATGCTCTAGTGCCTAGACCTGCAGCCTTGCTGTCTTCTCCCACCCCAGCTTGAGGACCAAATACCACTCTCCTCTCTGTTGGAGTGGATTTTTCTCCTAAAACCAAAGGAGGCACTCTTCTTCCCCAATCTGAAGTTTTTGTATTTTGCTATTACAGACCTGCTCTCTGGTCTCTAAATCTGGATTCCCAATGTACCCTGGGTGCCATAGAGTTGGCAGTTACTTTCCTGGGGGAAGAGGGTAGGACTTCAATGTTCTGAAAGTGACAGATCTCCGAGTTCCAGATATGGGTGTTCAGCAAATTTCTCAGTCTCTTCTAACAGGCCCTGCTTTGCAGGTGACCCGGCGCTTTGGGATCCCAGGGCTGAAGAAAATCATGGACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTGAGGAGGAGGCACTGCGCATGGATTTCACCAGCAACGGCTGGCTCTGAGGGCAGGCAGGGTCCATGGCTGGCCTGAGCCCATCTCAGCCTCCTGCCTTGCACTTGCAGCCTGAAGCGGAGAGCACAGGGGGATGAGGGTGGCAGGCAGCGGGGAGCCGATAGAGGCTCCTTTGCCTGCTGTGGTCCTCCAGGCAGCCTTTCACAGGCACGCCCATGCATATCTCCTATTCTAACGGCCCCTGACCTCTCCCTTTTGGATCCTAAACTGTGTCTCTGGTCTGAAGACTGGGAAGGAGCAATTTCTCAATTTATCTTTCTACTGTGGATGCTTTCCTACGCCCTGAGGCACATGAAGTCAGAAAGGAAGGGCAGAGGGGCAAGTAGGCACAGTAAGGGAATTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCCGGCCGGGAATTTATCAAAGGGGGGACTACTTAGATTTGGGGCTTCAAACCTGAGTCTAGCACAATGCAGCTGGAGGCCAGGGCTACTCCTACAAACCCAAGTTCTGACTCCTTCCAGGGAAGTATCAGCTTAAGAAACTTGATCAGGAAAGTGACACTGGTCTTTCAAAGAGCCCTCTTTACCCTCCCATCCCTGCCCTCCACACTGCAAGCTGCATTCCAGCCACAACGCCCTTTTCTAAATCTATTTTCATTCATCTCCTATTCTGGTCTGTAGCCTTGATTCCAACCATTGAATGCACGGAGACAGCCCAGTGGCTTGTCAGATTGGTAAATAATGACACCTGGTGGATAAATGTTACATTCTAGAAGACTATTCTGGTCAGCCTAGGTCTGAAACACTAAGGAGACTTGGCCTGAGATAGGGCCATCCACTTGCCTACAGGCACTCTGCTTTTATTATTAAAAATAGTCACTTTGTTACTATAATAAAATTTAACAGAAAAAATTAGTGTGGCTATATAAAGATGGACACTCTATTGCTATGCAGATCTTAGGTTTCCTGGCCAGATGTCAAGAACCTTTCTAAAGGCAAAAGAGCTCTGATGGTCTGCCTTCTCCCAGCTCGAAGAGTGTCCCCAGCAATACTGAGCCAACAGGCATTCACTTACTGGAGACCTGGGGAAGGGGTAAGAGGCAAAAGAGAGCAAGTGAGCTATTTAGAAACAAACACTTAGCACTTTTATTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCATTCAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTACAACCTCTGCCTCCCAGATTCAAGTGACTCCCCTGCCTCACCCTCCCGAGTAGCTGGAATTACAGGTGTTCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCCTTCAGCATCCTTTTTGATTAAAGTGCTAAGTGTTTAGGGCCAGGCAGCACTTTGGGAGGCGGAGGCAGGAGGATCACATGAGGTCAAGAGTTTGAGACCAGCCTGATCAACACGGCAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACGTGGGAGGTGGAGGTTGCAATGGGCCGAGATCGTGTCATGGCACTCCAGCCTGTGCCACAAGAGCAAAACTCCATCTCAACAACAACAACAAAAAAGGATGCTTTCTCCAAAATATTTAACCTTTTTCAGTGGTAATATTTGACTAGT
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CACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGGACTCTAGTGGTAAAGTTATTAGTCAATCTTTCATCAGTGGTTCCTGGCCTTTTTATCCCAAACAACCTTTTATTTTTATCCTCCTAAGGTTTTAGCTTCTCTCCAAATAAAACTTTCTTAAGGACTACTTTTGTAGTTTTTAGGTAGTGAAAGATTCATCTAATATTTCTGATCAGCATGAAATAACCAGTTGCTATACCAAAAGCAAGGAAATTTGATGCTTCATTTATTCTGTAATATTCCATACACGATTTTAAATTATAATAGGCCAGGCGCCGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGTGACTAGCCTGAGCAACATAGCAAGACCTCGTCTCTACAAAAAATGCAAAAATTAGCCAGGCATGCTGTCATGCACCTGAAGTCCAAGGTGCTGTGGAGGCTGAGGTGGGAGAATCGATTGAGCCCAGGAGGTCTAGGCTACAGTGAGCCATGATCATACCACTGCACTCTAGCCTGAGTGGCACAGTGAGACCCTGTCTCAAAAACATAAACATAAAATAAAAATAAATAAATTATTACGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAGCCCTGTCTCTACTAAAAATACAAAAATAAAATAAAATAAAACGAGCTTGGTGTGGTGGCAGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAATGAGCTGAGATCAGGACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCTTTAGGTCCCCCATTATCAGGGAAAAGCCTTTAGAGATCATGTTGTCCAGCCCCTTCCTTTTTTAGACAGGAGAACTTACTCAGAGATAATAAGTAAATGACATACAGTTTATACAACAAAACTTCCTTGGGAAATGATGCTTTGCTTTTCCTGGGAGACCATTTAGTGTTAGGGTCAGGAGGAGCTATGGGGAGGTGAGGGCAGCCAGATGCAAGGGGAGTAGAGGTCTGGGCTGTGCCTGAGACTCTCACAGATCCTTCCCCTTCCTGACTTCCCAGGTCTGGTGTGACCTGCGTCAGGTTTCAGGGAGCTGGGCTGCAGACTGCTGATGCTCTAGTGCCTAGACCTGCAGCCTTGCTGTCTTCTCCCACCCCAGCTTGAGGACCAAATACCACTCTCCTCTCTGTTGGAGTGGATTTTTCTCCTAAAACCAAAGGAGGCACTCTTCTTCCCCAATCTGAAGTTTTTGTATTTTGCTATTACAGACCTGCTCTCTGGTCTCTAAATCTGGATTCCCAATGTACCCTGGGTGCCATAGAGTTGGCAGTTACTTTCCTGGGGGAAGAGGGTAGGACTTCAATGTTCTGAAAGTGACAGATCTCCGAGTTCCAGATATGGGTGTTCAGCAAATTTCTCAGTCTCTTCTAACAGGCCCTGCTTTGCAGGTGACCCGGCGCTTTGGGATCCCAGGGCTGAAGAAAATCATGGACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTGAGGAGGAGGCACTGCGCATGGATTTCACCAGCAACAGCTGGCTCTGAGGGCAGGCAGGGTCCATGGCTGGCCTGAGCCCATCTCAGCCTCCTGCCTTGCACTTGCAGCCTGAAGCGGAGAGCACAGGGGGATGAGGGTGGCAGGCAGCGGGGAGCCGATAGAGGCTCCTTTGCCTGCTGTGGTCCTCCAGGCAGCCTTTCACAGGCACGCCCATGCATATCTCCTATTCTAACGGCCCCTGACCTCTCCCTTTTGGATCCTAAACTGTGTCTCTGGTCTGAAGACTGGGAAGGAGCAATTTCTCAATTTATCTTTCTACTGTGGATGCTTTCCTACGCCCTGAGGCACATGAAGTCAGAAAGGAAGGGCAGAGGGGCAAGTAGGCACAGTAAGGGAATTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCCGGCCGGGAATTTATCAAAGGGGGGACTACTTAGATTTGGGGCTTCAAACCTGAGTCTAGCACAATGCAGCTGGAGGCCAGGGCTACTCCTACAAACCCAAGTTCTGACTCCTTCCAGGGAAGTATCAGCTTAAGAAACTTGATCAGGAAAGTGACACTGGTCTTTCAAAGAGCCCTCTTTACCCTCCCATCCCTGCCCTCCACACTGCAAGCTGCATTCCAGCCACAACGCCCTTTTCTAAATCTATTTTCATTCATCTCCTATTCTGGTCTGTAGCCTTGATTCCAACCATTGAATGCACGGAGACAGCCCAGTGGCTTGTCAGATTGGTAAATAATGACACCTGGTGGATAAATGTTACATTCTAGAAGACTATTCTGGTCAGCCTAGGTCTGAAACACTAAGGAGACTTGGCCTGAGATAGGGCCATCCACTTGCCTACAGGCACTCTGCTTTTATTATTAAAAATAGTCACTTTGTTACTATAATAAAATTTAACAGAAAAAATTAGTGTGGCTATATAAAGATGGACACTCTATTGCTATGCAGATCTTAGGTTTCCTGGCCAGATGTCAAGAACCTTTCTAAAGGCAAAAGAGCTCTGATGGTCTGCCTTCTCCCAGCTCGAAGAGTGTCCCCAGCAATACTGAGCCAACAGGCATTCACTTACTGGAGACCTGGGGAAGGGGTAAGAGGCAAAAGAGAGCAAGTGAGCTATTTAGAAACAAACACTTAGCACTTTTATTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCATTCAGGCTGGTGTGCAGTGGCACGATCTCGGCTCACTACAACCTCTGCCTCCCAGATTCAAGTGACTCCCCTGCCTCACCCTCCCGAGTAGCTGGAATTACAGGTGTTCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCCTTCAGCATCCTTTTTGATTAAAGTGCTAAGTGTTTAGGGCCAGGCAGCACTTTGGGAGGCGGAGGCAGGAGGATCACATGAGGTCAAGAGTTTGAGACCAGCCTGATCAACACGGCAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACGTGGGAGGTGGAGGTTGCAATGGGCCGAGATCGTGTCATGGCACTCCAGCCTGTGCCACAAGAGCAAAACTCCATCTCAACAACAACAACAAAAAAGGATGCTTTCTCCAAAATATTTAACCTTTTTCAGTGGTAATATTTGACTAGT
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Task1_train_14353
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This gene mutation involves HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hermansky-Pudlak syndrome 1
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CTCCTGAGGACATGTTTGGTAATGGTGGTCAGGGGGTAGAGGGGCATCTTCCTCCCCCCTCCCTTGCCCCCAATCCCCTCCTTGTTCTGTCCCCTGTATTCCTTCAGGCCTCAACCCGCCCCTCAGGAGTCAGCACACACAGTCCACGTTTGCCCATTCATTTATTCAACCGGCAAGCTCTTACTGAGCACCTGCTGTGTGCTGGGAATTGAGGTGGATTTCCTTCCTAATATAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAACAACCCTCATTTATAATCATGTTTCTTTGGGGGAAGTGTGTTCCTACATCTTAAACACCTGATTTACAAATGGATGAGTGCAACCCAAACCATTTGTAAGTTGTGAGTTCTCTGCACGGTGGAACAGCATTATTTTTTACAGTTTTAAGGCATAAAAAACCACTATCAAGAGAGAGGGACTGGGAGGAAGATGGTGATGAATGAGGAAGGGAGTGGTAAGAGGAACTTCGGAGATTACCCAGAACTCTGCTTCTCAACAGGTCTCAGGCTCATCAAGAGCTCAGGGAATCTGAAGATAGCTAGGAACCCTCACCCCAGGAATGCACAGGCATCAGTGAGTTCACACACAGTCTCAGGGGGTCCTAGGCTTCTAGCCAGACCTAAAGTTAAAAGCATCTAACCCAGTGGTTGTCAACCTTGGCTACACACGAAAATCATTTGGGGACTTTTACAAAATCCTGACGCCCAGGGCATAGCTCAGACCAACTGAGTCAGCATCTCCGGGTACAGGCTCAGCTTCAATAATTGTTAAAGATCCCCAGGTGAGTTCAATATGCAGCCAGGGGGCAAAGCATGCTGTAACCTAAATCTGTGCACAGCAGTGGTTTGCACCCGAGGCACACTGAACTCACCTGGGAAAATTTCCTAGAAGTATTCACACCTGGGTCCCAGGCCCACAGACTGTAACTTAATTGGGCTGGCTGAAGCTGCCTGGTGATTCCAATGTGCCAGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTCAACCATTTTGAATATTTATAGTTTTTTTTTATTGTTTACCCACATACTTTGGAGAAACAAAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGGCTGCCTGTCGCTCGCAGCTAGCTATTGTTTCCTCCTGCTTTCCTCCGGTCCTCACCTGAGCTCTGATCGCCAGGGGAAGGAGCTGGTGTGAAGTACTCCTCAGGGAGGGAGAAGCTGTCTGTCTCCTGGAATGGAGAAGGTGGCTCAGGTTGAGAGGCTCTCCCAGCTGGCTCAACCCTGTCCCTGCTCTCCCAGGAGGGATGGGAAAGGCCTGGTCGCCTGCAGAGGCCGATCCCCTCCTGCCCCTGACTCCACGAAGTGCACAGCACACACCGTCTCTGCAGAGCTCCCCCCAGTTGGGCCCGTGGAGTGAGGGCTCCAGGCCTGCTGCACGGGGATGTTCTGGCTGCTCCGGGCCCTCCGCGGGGAAGGCTGTGCAGGGCAGGGGAGAGGCTGGTTAGCTCCTATCTGACCTGGCTCCCTCCACCCCTTCTGCCTCCCAGCGCTTCACAGAGAAGCCTCCACCCCTCCACCCCTCCACCCGTTCCGGGTGCAGTCCTGGGTGTGTGGTCCTCAGACTTCCCAGGGATTCGATTCTAGGCGGTCTGTTCTGTGGAAATTCGAGAAATTCCAACACAATGGTATCCAACCCACCACTACCCCTGGTGATGAGGTCAACAGCGATGGTGGTGGCTGACACTCACTAAGCATTCACTATGCCCCAGGCAGTGCCAGGTTCTGTGGGAACCACCCCTTTTGTCCCTCCAAATACCCCTGAGAAGTAGATGCTTTGTTATTCCCATTGCACAGATAAGGGCACTGAGGCTCTGGGGGTGCAAGTACGGGCTCAGCTCACACAGCCAGGTGTTGAAGCTGGGTTTCGAACCATGGCTGACTTGAAAAATCTGCACTTTTAACCCACTGGACCATGTGCACTCCAGAATTCCCCTTACATCTGAAAGCAGTGGGAAAGAAGTCACGCCCAACCACACACCCAGAATTGTGACTTAGAAAACATGGAGTCCCCAGGGGGAGCCTGCCCACCATCTTCAGGCAGGTTTTCTGAACTACCTCCCTAATGGCCTCCCTCTGCCCAGAAAGCTGCCCTGAGACCTGAATGTCGTCCTCTGCTGTGCTCTCGCTGGGGTAGAGGTCCTGAACCAGGAGGATGAGGGCAAGCAGGTCGGCCGGGCGCAGGGAGCTGGCACTGTGGCTGCAGACACAGGAGCATGGCCACCCATCAGCACATGCCCAGCAGGAGACGGGGCAGGCAGGTTAAAGGAGTGTGGAGCCTGGCCCCTGCCCTCAAGGAGCAATGTACTTCTGGAGATGGGCAAGGCACAAATACAATTAATTAACTCGTCAAATTTCAAAATAAAACTTGGTTGTATAGAACAAAGAAAAGAAAATGATTTAGCAGTGGGAAAGCACCAGGGACCAAGAACAACATAAAAGGAAGTTCTAGATTGAGACTCTAAGACAGTGTTCCAGGAAGGAATGATACAGAGAAATGGGTGAGCTGAAAAAGGTTGGAGAATCAAATCTGGGAAGGTTTCAGGCTTCATGGAGGAGGTGATTCTTGGCTGGGCAGGTGGTGCTTTTCAGGCAGAGGCCATAGGGGAGTGAGAAGGCCAGGGAGCCTTTAGCCACCACATGCCAGACCTTGAGCTCACCTAGAGTAGAATGCCAGCAGCTTGGAGTGCACGAGCAGGAAGGCATGCAGGGCCTCCTCGCCTCCCCGCTCGGGGCTGGTGTTGACAGCCTGGATGACGTGCCGCTCCAGCGCCTCTATGCACAGCTCACAGAGCTGGGGGTGAATCAGTCGCTCCAGGGCCTAGCCAGGGCAGGAAGGGAGAGGAAGCCATATCACCAACAACCTTGCCCCACTCCAAGCCCTGGGCTAGTGGGGACATTCACTCTGTCCACAGTGAGCTTGGACTCTGCACCAGATACTTGGAAACAGGGGGACTAAGACCCACCAGGTCCCAGCCTTCCTGAGGCTTACTGTCTGGTCACTAGACTCCAGTGGATGAGGCAAGGCAATACACAAGGAAATAAAGTAAGTGCCATTTGTAAGTAAGCACCAAGTACAAAATACACAGCACTAGGCTAGAGAGAAATAGCAGAGACCTCCTTGGGTAGGGTGTCCAAAGAAATGTCCCT
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CTCCTGAGGACATGTTTGGTAATGGTGGTCAGGGGGTAGAGGGGCATCTTCCTCCCCCCTCCCTTGCCCCCAATCCCCTCCTTGTTCTGTCCCCTGTATTCCTTCAGGCCTCAACCCGCCCCTCAGGAGTCAGCACACACAGTCCACGTTTGCCCATTCATTTATTCAACCGGCAAGCTCTTACTGAGCACCTGCTGTGTGCTGGGAATTGAGGTGGATTTCCTTCCTAATATAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAACAACCCTCATTTATAATCATGTTTCTTTGGGGGAAGTGTGTTCCTACATCTTAAACACCTGATTTACAAATGGATGAGTGCAACCCAAACCATTTGTAAGTTGTGAGTTCTCTGCACGGTGGAACAGCATTATTTTTTACAGTTTTAAGGCATAAAAAACCACTATCAAGAGAGAGGGACTGGGAGGAAGATGGTGATGAATGAGGAAGGGAGTGGTAAGAGGAACTTCGGAGATTACCCAGAACTCTGCTTCTCAACAGGTCTCAGGCTCATCAAGAGCTCAGGGAATCTGAAGATAGCTAGGAACCCTCACCCCAGGAATGCACAGGCATCAGTGAGTTCACACACAGTCTCAGGGGGTCCTAGGCTTCTAGCCAGACCTAAAGTTAAAAGCATCTAACCCAGTGGTTGTCAACCTTGGCTACACACGAAAATCATTTGGGGACTTTTACAAAATCCTGACGCCCAGGGCATAGCTCAGACCAACTGAGTCAGCATCTCCGGGTACAGGCTCAGCTTCAATAATTGTTAAAGATCCCCAGGTGAGTTCAATATGCAGCCAGGGGGCAAAGCATGCTGTAACCTAAATCTGTGCACAGCAGTGGTTTGCACCCGAGGCACACTGAACTCACCTGGGAAAATTTCCTAGAAGTATTCACACCTGGGTCCCAGGCCCACAGACTGTAACTTAATTGGGCTGGCTGAAGCTGCCTGGTGATTCCAATGTGCCAGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTCAACCATTTTGAATATTTATAGTTTTTTTTTATTGTTTACCCACATACTTTGGAGAAACAAAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGGCTGCCTGTCGCTCGCAGCTAGCTATTGTTTCCTCCTGCTTTCCTCCGGTCCTCACTTGAGCTCTGATCGCCAGGGGAAGGAGCTGGTGTGAAGTACTCCTCAGGGAGGGAGAAGCTGTCTGTCTCCTGGAATGGAGAAGGTGGCTCAGGTTGAGAGGCTCTCCCAGCTGGCTCAACCCTGTCCCTGCTCTCCCAGGAGGGATGGGAAAGGCCTGGTCGCCTGCAGAGGCCGATCCCCTCCTGCCCCTGACTCCACGAAGTGCACAGCACACACCGTCTCTGCAGAGCTCCCCCCAGTTGGGCCCGTGGAGTGAGGGCTCCAGGCCTGCTGCACGGGGATGTTCTGGCTGCTCCGGGCCCTCCGCGGGGAAGGCTGTGCAGGGCAGGGGAGAGGCTGGTTAGCTCCTATCTGACCTGGCTCCCTCCACCCCTTCTGCCTCCCAGCGCTTCACAGAGAAGCCTCCACCCCTCCACCCCTCCACCCGTTCCGGGTGCAGTCCTGGGTGTGTGGTCCTCAGACTTCCCAGGGATTCGATTCTAGGCGGTCTGTTCTGTGGAAATTCGAGAAATTCCAACACAATGGTATCCAACCCACCACTACCCCTGGTGATGAGGTCAACAGCGATGGTGGTGGCTGACACTCACTAAGCATTCACTATGCCCCAGGCAGTGCCAGGTTCTGTGGGAACCACCCCTTTTGTCCCTCCAAATACCCCTGAGAAGTAGATGCTTTGTTATTCCCATTGCACAGATAAGGGCACTGAGGCTCTGGGGGTGCAAGTACGGGCTCAGCTCACACAGCCAGGTGTTGAAGCTGGGTTTCGAACCATGGCTGACTTGAAAAATCTGCACTTTTAACCCACTGGACCATGTGCACTCCAGAATTCCCCTTACATCTGAAAGCAGTGGGAAAGAAGTCACGCCCAACCACACACCCAGAATTGTGACTTAGAAAACATGGAGTCCCCAGGGGGAGCCTGCCCACCATCTTCAGGCAGGTTTTCTGAACTACCTCCCTAATGGCCTCCCTCTGCCCAGAAAGCTGCCCTGAGACCTGAATGTCGTCCTCTGCTGTGCTCTCGCTGGGGTAGAGGTCCTGAACCAGGAGGATGAGGGCAAGCAGGTCGGCCGGGCGCAGGGAGCTGGCACTGTGGCTGCAGACACAGGAGCATGGCCACCCATCAGCACATGCCCAGCAGGAGACGGGGCAGGCAGGTTAAAGGAGTGTGGAGCCTGGCCCCTGCCCTCAAGGAGCAATGTACTTCTGGAGATGGGCAAGGCACAAATACAATTAATTAACTCGTCAAATTTCAAAATAAAACTTGGTTGTATAGAACAAAGAAAAGAAAATGATTTAGCAGTGGGAAAGCACCAGGGACCAAGAACAACATAAAAGGAAGTTCTAGATTGAGACTCTAAGACAGTGTTCCAGGAAGGAATGATACAGAGAAATGGGTGAGCTGAAAAAGGTTGGAGAATCAAATCTGGGAAGGTTTCAGGCTTCATGGAGGAGGTGATTCTTGGCTGGGCAGGTGGTGCTTTTCAGGCAGAGGCCATAGGGGAGTGAGAAGGCCAGGGAGCCTTTAGCCACCACATGCCAGACCTTGAGCTCACCTAGAGTAGAATGCCAGCAGCTTGGAGTGCACGAGCAGGAAGGCATGCAGGGCCTCCTCGCCTCCCCGCTCGGGGCTGGTGTTGACAGCCTGGATGACGTGCCGCTCCAGCGCCTCTATGCACAGCTCACAGAGCTGGGGGTGAATCAGTCGCTCCAGGGCCTAGCCAGGGCAGGAAGGGAGAGGAAGCCATATCACCAACAACCTTGCCCCACTCCAAGCCCTGGGCTAGTGGGGACATTCACTCTGTCCACAGTGAGCTTGGACTCTGCACCAGATACTTGGAAACAGGGGGACTAAGACCCACCAGGTCCCAGCCTTCCTGAGGCTTACTGTCTGGTCACTAGACTCCAGTGGATGAGGCAAGGCAATACACAAGGAAATAAAGTAAGTGCCATTTGTAAGTAAGCACCAAGTACAAAATACACAGCACTAGGCTAGAGAGAAATAGCAGAGACCTCCTTGGGTAGGGTGTCCAAAGAAATGTCCCT
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Task1_train_14354
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Consider this mutation in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Hermansky-Pudlak syndrome 1
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AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTCAACCATTTTGAATATTTATAGTTTTTTTTTATTGTTTACCCACATACTTTGGAGAAACAAAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGGCTGCCTGTCGCTCGCAGCTAGCTATTGTTTCCTCCTGCTTTCCTCCGGTCCTCACCTGAGCTCTGATCGCCAGGGGAAGGAGCTGGTGTGAAGTACTCCTCAGGGAGGGAGAAGCTGTCTGTCTCCTGGAATGGAGAAGGTGGCTCAGGTTGAGAGGCTCTCCCAGCTGGCTCAACCCTGTCCCTGCTCTCCCAGGAGGGATGGGAAAGGCCTGGTCGCCTGCAGAGGCCGATCCCCTCCTGCCCCTGACTCCACGAAGTGCACAGCACACACCGTCTCTGCAGAGCTCCCCCCAGTTGGGCCCGTGGAGTGAGGGCTCCAGGCCTGCTGCACGGGGATGTTCTGGCTGCTCCGGGCCCTCCGCGGGGAAGGCTGTGCAGGGCAGGGGAGAGGCTGGTTAGCTCCTATCTGACCTGGCTCCCTCCACCCCTTCTGCCTCCCAGCGCTTCACAGAGAAGCCTCCACCCCTCCACCCCTCCACCCGTTCCGGGTGCAGTCCTGGGTGTGTGGTCCTCAGACTTCCCAGGGATTCGATTCTAGGCGGTCTGTTCTGTGGAAATTCGAGAAATTCCAACACAATGGTATCCAACCCACCACTACCCCTGGTGATGAGGTCAACAGCGATGGTGGTGGCTGACACTCACTAAGCATTCACTATGCCCCAGGCAGTGCCAGGTTCTGTGGGAACCACCCCTTTTGTCCCTCCAAATACCCCTGAGAAGTAGATGCTTTGTTATTCCCATTGCACAGATAAGGGCACTGAGGCTCTGGGGGTGCAAGTACGGGCTCAGCTCACACAGCCAGGTGTTGAAGCTGGGTTTCGAACCATGGCTGACTTGAAAAATCTGCACTTTTAACCCACTGGACCATGTGCACTCCAGAATTCCCCTTACATCTGAAAGCAGTGGGAAAGAAGTCACGCCCAACCACACACCCAGAATTGTGACTTAGAAAACATGGAGTCCCCAGGGGGAGCCTGCCCACCATCTTCAGGCAGGTTTTCTGAACTACCTCCCTAATGGCCTCCCTCTGCCCAGAAAGCTGCCCTGAGACCTGAATGTCGTCCTCTGCTGTGCTCTCGCTGGGGTAGAGGTCCTGAACCAGGAGGATGAGGGCAAGCAGGTCGGCCGGGCGCAGGGAGCTGGCACTGTGGCTGCAGACACAGGAGCATGGCCACCCATCAGCACATGCCCAGCAGGAGACGGGGCAGGCAGGTTAAAGGAGTGTGGAGCCTGGCCCCTGCCCTCAAGGAGCAATGTACTTCTGGAGATGGGCAAGGCACAAATACAATTAATTAACTCGTCAAATTTCAAAATAAAACTTGGTTGTATAGAACAAAGAAAAGAAAATGATTTAGCAGTGGGAAAGCACCAGGGACCAAGAACAACATAAAAGGAAGTTCTAGATTGAGACTCTAAGACAGTGTTCCAGGAAGGAATGATACAGAGAAATGGGTGAGCTGAAAAAGGTTGGAGAATCAAATCTGGGAAGGTTTCAGGCTTCATGGAGGAGGTGATTCTTGGCTGGGCAGGTGGTGCTTTTCAGGCAGAGGCCATAGGGGAGTGAGAAGGCCAGGGAGCCTTTAGCCACCACATGCCAGACCTTGAGCTCACCTAGAGTAGAATGCCAGCAGCTTGGAGTGCACGAGCAGGAAGGCATGCAGGGCCTCCTCGCCTCCCCGCTCGGGGCTGGTGTTGACAGCCTGGATGACGTGCCGCTCCAGCGCCTCTATGCACAGCTCACAGAGCTGGGGGTGAATCAGTCGCTCCAGGGCCTAGCCAGGGCAGGAAGGGAGAGGAAGCCATATCACCAACAACCTTGCCCCACTCCAAGCCCTGGGCTAGTGGGGACATTCACTCTGTCCACAGTGAGCTTGGACTCTGCACCAGATACTTGGAAACAGGGGGACTAAGACCCACCAGGTCCCAGCCTTCCTGAGGCTTACTGTCTGGTCACTAGACTCCAGTGGATGAGGCAAGGCAATACACAAGGAAATAAAGTAAGTGCCATTTGTAAGTAAGCACCAAGTACAAAATACACAGCACTAGGCTAGAGAGAAATAGCAGAGACCTCCTTGGGTAGGGTGTCCAAAGAAATGTCCCTGAATTAGGTCACCTTTAAACTAATATCTAAACAACCAGATGGCCCACCAGAGAAAGAGGGAGAGAGAGAACACTGCAAGTCAAGGAGACTGCATATTCAGAGGCCATGAGATGGGGACAGAGTTTGCAATGGTGCTGTCCAACAGAAATAAAAGAAAGGCCCTATGCATAATTTAAATGTTTCCAGTGACCACATTAAAAAAGTAAAAAGAAACAGTTGACATTAATTTTAATGATATATTTCATTTTACTGAATATATCCAAAATATTATCACCATATGATATAAAAGCCTTATTAATGGAATGTTTTACATTCTTTTTTGTGCTAAGTTACCAAAATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTG
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AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTCAACCATTTTGAATATTTATAGTTTTTTTTTATTGTTTACCCACATACTTTGGAGAAACAAAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGGCTGCCTGTCGCTCGCAGCTAGCTATTGTTTCCTCCTGCTTTCCTCCGGTCCTCACCTGAGCTCTGATCGCCAGGGGAAGGAGCTGGTGTGAAGTACTCCTCAGGGAGGGAGAAGCTGTCTGTCTCCTGGAATGGAGAAGGTGGCTCAGGTTGAGAGGCTCTCCCAGCTGGCTCAACCCTGTCCCTGCTCTCCCAGGAGGGATGGGAAAGGCCTGGTCGCCTGCAGAGGCCGATCCCCTCCTGCCCCTGACTCCACGAAGTGCACAGCACACACCGTCTCTGCAGAGCTCCCCCCAGTTGGGCCCGTGGAGTGAGGGCTCCAGGCCTGCTGCACGGGGATGTTCTGGCTGCTCCGGGCCCTCCGCGGGGAAGGCTGTGCAGGGCAGGGGAGAGGCTGGTTAGCTCCTATCTGACCTGGCTCCCTCCACCCCTTCTGCCTCCCAGCGCTTCACAGAGAAGCCTCCACCCCTCCACCCCTCCACCCGTTCCGGGTGCAGTCCTGGGTGTGTGGTCCTCAGACTTCCCAGGGATTCGATTCTAGGCGGTCTGTTCTGTGGAAATTCGAGAAATTCCAACACAATGGTATCCAACCCACCACTACCCCTGGTGATGAGGTCAACAGCGATGGTGGTGGCTGACACTCACTAAGCATTCACTATGCCCCAGGCAGTGCCAGGTTCTGTGGGAACCACCCCTTTTGTCCCTCCAAATACCCCTGAGAAGTAGATGCTTTGTTATTCCCATTGCACAGATAAGGGCACTGAGGCTCTGGGGGTGCAAGTACGGGCTCAGCTCACACAGCCAGGTGTTGAAGCTGGGTTTCGAACCATGGCTGACTTGAAAAATCTGCACTTTTAACCCACTGGACCATGTGCACTCCAGAATTCCCCTTACATCTGAAAGCAGTGGGAAAGAAGTCACGCCCAACCACACACCCAGAATTGTGACTTAGAAAACATGGAGTCCCCAGGGGGAGCCTGCCCACCATCTTCAGGCAGGTTTTCTGAACTACCTCCCTAATGGCCTCCCTCTGCCCAGAAAGCTGCCCTGAGACCTGAATGTCGTCCTCTGCTGTGCTCTCGCTGGGGTAGAGGTCCTGAACCAGGGGGATGAGGGCAAGCAGGTCGGCCGGGCGCAGGGAGCTGGCACTGTGGCTGCAGACACAGGAGCATGGCCACCCATCAGCACATGCCCAGCAGGAGACGGGGCAGGCAGGTTAAAGGAGTGTGGAGCCTGGCCCCTGCCCTCAAGGAGCAATGTACTTCTGGAGATGGGCAAGGCACAAATACAATTAATTAACTCGTCAAATTTCAAAATAAAACTTGGTTGTATAGAACAAAGAAAAGAAAATGATTTAGCAGTGGGAAAGCACCAGGGACCAAGAACAACATAAAAGGAAGTTCTAGATTGAGACTCTAAGACAGTGTTCCAGGAAGGAATGATACAGAGAAATGGGTGAGCTGAAAAAGGTTGGAGAATCAAATCTGGGAAGGTTTCAGGCTTCATGGAGGAGGTGATTCTTGGCTGGGCAGGTGGTGCTTTTCAGGCAGAGGCCATAGGGGAGTGAGAAGGCCAGGGAGCCTTTAGCCACCACATGCCAGACCTTGAGCTCACCTAGAGTAGAATGCCAGCAGCTTGGAGTGCACGAGCAGGAAGGCATGCAGGGCCTCCTCGCCTCCCCGCTCGGGGCTGGTGTTGACAGCCTGGATGACGTGCCGCTCCAGCGCCTCTATGCACAGCTCACAGAGCTGGGGGTGAATCAGTCGCTCCAGGGCCTAGCCAGGGCAGGAAGGGAGAGGAAGCCATATCACCAACAACCTTGCCCCACTCCAAGCCCTGGGCTAGTGGGGACATTCACTCTGTCCACAGTGAGCTTGGACTCTGCACCAGATACTTGGAAACAGGGGGACTAAGACCCACCAGGTCCCAGCCTTCCTGAGGCTTACTGTCTGGTCACTAGACTCCAGTGGATGAGGCAAGGCAATACACAAGGAAATAAAGTAAGTGCCATTTGTAAGTAAGCACCAAGTACAAAATACACAGCACTAGGCTAGAGAGAAATAGCAGAGACCTCCTTGGGTAGGGTGTCCAAAGAAATGTCCCTGAATTAGGTCACCTTTAAACTAATATCTAAACAACCAGATGGCCCACCAGAGAAAGAGGGAGAGAGAGAACACTGCAAGTCAAGGAGACTGCATATTCAGAGGCCATGAGATGGGGACAGAGTTTGCAATGGTGCTGTCCAACAGAAATAAAAGAAAGGCCCTATGCATAATTTAAATGTTTCCAGTGACCACATTAAAAAAGTAAAAAGAAACAGTTGACATTAATTTTAATGATATATTTCATTTTACTGAATATATCCAAAATATTATCACCATATGATATAAAAGCCTTATTAATGGAATGTTTTACATTCTTTTTTGTGCTAAGTTACCAAAATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTG
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Task1_train_14355
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The gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Hermansky-Pudlak syndrome
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AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTCAACCATTTTGAATATTTATAGTTTTTTTTTATTGTTTACCCACATACTTTGGAGAAACAAAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGGCTGCCTGTCGCTCGCAGCTAGCTATTGTTTCCTCCTGCTTTCCTCCGGTCCTCACCTGAGCTCTGATCGCCAGGGGAAGGAGCTGGTGTGAAGTACTCCTCAGGGAGGGAGAAGCTGTCTGTCTCCTGGAATGGAGAAGGTGGCTCAGGTTGAGAGGCTCTCCCAGCTGGCTCAACCCTGTCCCTGCTCTCCCAGGAGGGATGGGAAAGGCCTGGTCGCCTGCAGAGGCCGATCCCCTCCTGCCCCTGACTCCACGAAGTGCACAGCACACACCGTCTCTGCAGAGCTCCCCCCAGTTGGGCCCGTGGAGTGAGGGCTCCAGGCCTGCTGCACGGGGATGTTCTGGCTGCTCCGGGCCCTCCGCGGGGAAGGCTGTGCAGGGCAGGGGAGAGGCTGGTTAGCTCCTATCTGACCTGGCTCCCTCCACCCCTTCTGCCTCCCAGCGCTTCACAGAGAAGCCTCCACCCCTCCACCCCTCCACCCGTTCCGGGTGCAGTCCTGGGTGTGTGGTCCTCAGACTTCCCAGGGATTCGATTCTAGGCGGTCTGTTCTGTGGAAATTCGAGAAATTCCAACACAATGGTATCCAACCCACCACTACCCCTGGTGATGAGGTCAACAGCGATGGTGGTGGCTGACACTCACTAAGCATTCACTATGCCCCAGGCAGTGCCAGGTTCTGTGGGAACCACCCCTTTTGTCCCTCCAAATACCCCTGAGAAGTAGATGCTTTGTTATTCCCATTGCACAGATAAGGGCACTGAGGCTCTGGGGGTGCAAGTACGGGCTCAGCTCACACAGCCAGGTGTTGAAGCTGGGTTTCGAACCATGGCTGACTTGAAAAATCTGCACTTTTAACCCACTGGACCATGTGCACTCCAGAATTCCCCTTACATCTGAAAGCAGTGGGAAAGAAGTCACGCCCAACCACACACCCAGAATTGTGACTTAGAAAACATGGAGTCCCCAGGGGGAGCCTGCCCACCATCTTCAGGCAGGTTTTCTGAACTACCTCCCTAATGGCCTCCCTCTGCCCAGAAAGCTGCCCTGAGACCTGAATGTCGTCCTCTGCTGTGCTCTCGCTGGGGTAGAGGTCCTGAACCAGGAGGATGAGGGCAAGCAGGTCGGCCGGGCGCAGGGAGCTGGCACTGTGGCTGCAGACACAGGAGCATGGCCACCCATCAGCACATGCCCAGCAGGAGACGGGGCAGGCAGGTTAAAGGAGTGTGGAGCCTGGCCCCTGCCCTCAAGGAGCAATGTACTTCTGGAGATGGGCAAGGCACAAATACAATTAATTAACTCGTCAAATTTCAAAATAAAACTTGGTTGTATAGAACAAAGAAAAGAAAATGATTTAGCAGTGGGAAAGCACCAGGGACCAAGAACAACATAAAAGGAAGTTCTAGATTGAGACTCTAAGACAGTGTTCCAGGAAGGAATGATACAGAGAAATGGGTGAGCTGAAAAAGGTTGGAGAATCAAATCTGGGAAGGTTTCAGGCTTCATGGAGGAGGTGATTCTTGGCTGGGCAGGTGGTGCTTTTCAGGCAGAGGCCATAGGGGAGTGAGAAGGCCAGGGAGCCTTTAGCCACCACATGCCAGACCTTGAGCTCACCTAGAGTAGAATGCCAGCAGCTTGGAGTGCACGAGCAGGAAGGCATGCAGGGCCTCCTCGCCTCCCCGCTCGGGGCTGGTGTTGACAGCCTGGATGACGTGCCGCTCCAGCGCCTCTATGCACAGCTCACAGAGCTGGGGGTGAATCAGTCGCTCCAGGGCCTAGCCAGGGCAGGAAGGGAGAGGAAGCCATATCACCAACAACCTTGCCCCACTCCAAGCCCTGGGCTAGTGGGGACATTCACTCTGTCCACAGTGAGCTTGGACTCTGCACCAGATACTTGGAAACAGGGGGACTAAGACCCACCAGGTCCCAGCCTTCCTGAGGCTTACTGTCTGGTCACTAGACTCCAGTGGATGAGGCAAGGCAATACACAAGGAAATAAAGTAAGTGCCATTTGTAAGTAAGCACCAAGTACAAAATACACAGCACTAGGCTAGAGAGAAATAGCAGAGACCTCCTTGGGTAGGGTGTCCAAAGAAATGTCCCTGAATTAGGTCACCTTTAAACTAATATCTAAACAACCAGATGGCCCACCAGAGAAAGAGGGAGAGAGAGAACACTGCAAGTCAAGGAGACTGCATATTCAGAGGCCATGAGATGGGGACAGAGTTTGCAATGGTGCTGTCCAACAGAAATAAAAGAAAGGCCCTATGCATAATTTAAATGTTTCCAGTGACCACATTAAAAAAGTAAAAAGAAACAGTTGACATTAATTTTAATGATATATTTCATTTTACTGAATATATCCAAAATATTATCACCATATGATATAAAAGCCTTATTAATGGAATGTTTTACATTCTTTTTTGTGCTAAGTTACCAAAATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTG
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AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGACCTGGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTCAACCATTTTGAATATTTATAGTTTTTTTTTATTGTTTACCCACATACTTTGGAGAAACAAAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGGCTGCCTGTCGCTCGCAGCTAGCTATTGTTTCCTCCTGCTTTCCTCCGGTCCTCACCTGAGCTCTGATCGCCAGGGGAAGGAGCTGGTGTGAAGTACTCCTCAGGGAGGGAGAAGCTGTCTGTCTCCTGGAATGGAGAAGGTGGCTCAGGTTGAGAGGCTCTCCCAGCTGGCTCAACCCTGTCCCTGCTCTCCCAGGAGGGATGGGAAAGGCCTGGTCGCCTGCAGAGGCCGATCCCCTCCTGCCCCTGACTCCACGAAGTGCACAGCACACACCGTCTCTGCAGAGCTCCCCCCAGTTGGGCCCGTGGAGTGAGGGCTCCAGGCCTGCTGCACGGGGATGTTCTGGCTGCTCCGGGCCCTCCGCGGGGAAGGCTGTGCAGGGCAGGGGAGAGGCTGGTTAGCTCCTATCTGACCTGGCTCCCTCCACCCCTTCTGCCTCCCAGCGCTTCACAGAGAAGCCTCCACCCCTCCACCCCTCCACCCGTTCCGGGTGCAGTCCTGGGTGTGTGGTCCTCAGACTTCCCAGGGATTCGATTCTAGGCGGTCTGTTCTGTGGAAATTCGAGAAATTCCAACACAATGGTATCCAACCCACCACTACCCCTGGTGATGAGGTCAACAGCGATGGTGGTGGCTGACACTCACTAAGCATTCACTATGCCCCAGGCAGTGCCAGGTTCTGTGGGAACCACCCCTTTTGTCCCTCCAAATACCCCTGAGAAGTAGATGCTTTGTTATTCCCATTGCACAGATAAGGGCACTGAGGCTCTGGGGGTGCAAGTACGGGCTCAGCTCACACAGCCAGGTGTTGAAGCTGGGTTTCGAACCATGGCTGACTTGAAAAATCTGCACTTTTAACCCACTGGACCATGTGCACTCCAGAATTCCCCTTACATCTGAAAGCAGTGGGAAAGAAGTCACGCCCAACCACACACCCAGAATTGTGACTTAGAAAACATGGAGTCCCCAGGGGGAGCCTGCCCACCATCTTCAGGCAGGTTTTCTGAACTACCTCCCTAATGGCCTCCCTCTGCCCAGAAAGCTGCCCTGAGACCTGAATGTCGTCCTCTGCTGTGCTCTCGCTGGGGTAGAGGTCCTGAACCAGGGGGATGAGGGCAAGCAGGTCGGCCGGGCGCAGGGAGCTGGCACTGTGGCTGCAGACACAGGAGCATGGCCACCCATCAGCACATGCCCAGCAGGAGACGGGGCAGGCAGGTTAAAGGAGTGTGGAGCCTGGCCCCTGCCCTCAAGGAGCAATGTACTTCTGGAGATGGGCAAGGCACAAATACAATTAATTAACTCGTCAAATTTCAAAATAAAACTTGGTTGTATAGAACAAAGAAAAGAAAATGATTTAGCAGTGGGAAAGCACCAGGGACCAAGAACAACATAAAAGGAAGTTCTAGATTGAGACTCTAAGACAGTGTTCCAGGAAGGAATGATACAGAGAAATGGGTGAGCTGAAAAAGGTTGGAGAATCAAATCTGGGAAGGTTTCAGGCTTCATGGAGGAGGTGATTCTTGGCTGGGCAGGTGGTGCTTTTCAGGCAGAGGCCATAGGGGAGTGAGAAGGCCAGGGAGCCTTTAGCCACCACATGCCAGACCTTGAGCTCACCTAGAGTAGAATGCCAGCAGCTTGGAGTGCACGAGCAGGAAGGCATGCAGGGCCTCCTCGCCTCCCCGCTCGGGGCTGGTGTTGACAGCCTGGATGACGTGCCGCTCCAGCGCCTCTATGCACAGCTCACAGAGCTGGGGGTGAATCAGTCGCTCCAGGGCCTAGCCAGGGCAGGAAGGGAGAGGAAGCCATATCACCAACAACCTTGCCCCACTCCAAGCCCTGGGCTAGTGGGGACATTCACTCTGTCCACAGTGAGCTTGGACTCTGCACCAGATACTTGGAAACAGGGGGACTAAGACCCACCAGGTCCCAGCCTTCCTGAGGCTTACTGTCTGGTCACTAGACTCCAGTGGATGAGGCAAGGCAATACACAAGGAAATAAAGTAAGTGCCATTTGTAAGTAAGCACCAAGTACAAAATACACAGCACTAGGCTAGAGAGAAATAGCAGAGACCTCCTTGGGTAGGGTGTCCAAAGAAATGTCCCTGAATTAGGTCACCTTTAAACTAATATCTAAACAACCAGATGGCCCACCAGAGAAAGAGGGAGAGAGAGAACACTGCAAGTCAAGGAGACTGCATATTCAGAGGCCATGAGATGGGGACAGAGTTTGCAATGGTGCTGTCCAACAGAAATAAAAGAAAGGCCCTATGCATAATTTAAATGTTTCCAGTGACCACATTAAAAAAGTAAAAAGAAACAGTTGACATTAATTTTAATGATATATTTCATTTTACTGAATATATCCAAAATATTATCACCATATGATATAAAAGCCTTATTAATGGAATGTTTTACATTCTTTTTTGTGCTAAGTTACCAAAATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTG
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Task1_train_14356
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The following genetic variant occurs in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hermansky-Pudlak syndrome 1
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ATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTGTGATTCTACATTTCATATTTTTAAATATTTCATAGTTATTTTATATTCTATACCTAATAGTTCCAATGTATCAAGTGCCTTGGGATCTAAATCTGTTGGTGATTGATTTTCCTGACTCTCACTCGTGGTGGCTTATTTTCTTCCATATCTGATTTTCTTCAGTTGTGAGTTCACGTTTGTTTGATCTTTACCTTTCCTGCTCTAGCAGTGGTTTTCAAAGTGTGGTTCCTGGACAAGCACAATAAACAGCACCTGGGAATTTTTTAGAAATGGAAGTTCTAGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTCACAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAATGCAAGTTCTAGAGCCCCCATCCCAGACTCGCTAAATGAGAAAAGCTGAAAGTGAGGCCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTACTGGCTGTAGTGCTGGTATCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTAAAGGTGGACGCCCCCTCTGACCTGACAGCTTCAAGTCCTGAGGACTCCCGCGCCCAGTAGTCACCTCCACGGCGAAGCACTGCTCCTGCTCCCGCAGGCGGCTGTAGGTCCACAGCAGGCTCTGGAAGTGCTCCCACAGCTGGACACGCTGCGCCAGGTCTGGGGGCCGCAGCCTGGGGGCAGAGCCAGAGAGGGCGGGAGAGATCACAAGAAAGCTGGTCTCCCCCACACCCAACCAAAGGACCACAGTCTCAGCTCAGCATCAGAGCTTGGTGAGCCCATATGACCTGCCCACACAGCTGGGAAAGGGGGCCAGGTTTCCGGCCGAGCTCTAACTGTGGAGTGGGGTGGGATAGGCACGGAGCCGGAAGGCAGGCAGCTGAGCAAATCACCTCACTCCTCAGCCTCTGTCACACAAACACATGTCATACAAAGCCAGCTAGAGAGAGCCAGGGTGATGCTTAAGCTTCTCACACAGAGGCCACTGAACACAGAAAGATCTGGTCCATCATCAGGGCCCTACTCAGGGTCGCAGCCATCTCGGATGCTGGCAACGTCTGCACTGGCCACTGTGATTCATGTAACAGGCATCTGCCACCTGCAGCATTTGCCACTGACACCATGACCTATCTGGGCTAAAATGACTCATGAAACAATGTTTGTGCATTTGAGAAATGCCTCAATATGGGTAGTTGCTCATATCGCCACAAAACTAAAGTCCCAGAGCTTCACACTCCGCAGCTTCCCAATCCATCTTAGAGAATCAGGGGGTGGTGATACTACGAACTTCTCTTTTCTAGGTCTACATTTCAACTACAAGCCTTTTCTGGGGTCCCTCCCACCTCAGTGTATACTCTGAACCATGATTCTCTTTCCCCAAGTTCTTTACTGTGGGCCCAGAGACAGGTTTTAAGGTCTGTCTCCTGAGAAAACCTTCACGAGACTGTATGAATGTGCATGGGTTTGTGTTTTTCTGGAGAGAGAGTCTGAAGCTTGAGAAGCCAGAGAGGACTAGCTCAGACCAGATTTGTAATGACGGGTGATGATGTTGGGAGGATGGAAAGAGCACTGGACTGAGAGTCCTGAGCTCAAATATCCAGTTTGGATGTGGCCACCAACCAGCTAGATGACCCCAGGCAAGTGAGTTCCATTCTCTGCTCTGTTTCACCAGATATAAAGTCAGAGGGTCAGACCAGATGGTCTCCAAGGTTCACTTGAGCTGTTTCTCTGACCTAGGGACCCAGCTGGGGGCAGTATGTGAAAAATGGCAGCTTCACAGGGGCTGGGCACACGCTGCCTGGCCCAGCGAGGGTGCTCGGCAAAGGACAGAGGGGACCAGCTTTGAAGACTCACTCCTTTCGGATAAGATGACCGTCCACAGTCACCAGCCCAAAGTGCACTTCAAACAGGTACTTGAGCACATACAGCTTCCGCCGCAGGTCCCCCTCGCTCTCGGTGTGGTCACCATTGATGGCAATGAACAGGCATTCTCCAAACTGCAGGCACAGGCAGGCCAGTGTCAGCCAGCCCCAAGGGCACTCCCTTCACCTGCCCTGGTCTCTGCAGACAAGCCAGGGGAGGCTCGGGTCCCAGGCGGGTTTGATAAGATGCCGTTTCTGCCTTCTAAAGGAGTCTAAAGTTCCAAATAAGAGAGGCCTGTGGACTCCCCATCAAGCTGAGGGAAGAGGAACATGGGCCCCAGAGCTATAGACTCACCAGGTGAAGGACATACAGGAAGTTGCCATTTTCCGTGGAGAAGCAGGTGTAGGTGTCCGAGAGCTTCTCCAGCATCGTCATGGAGGAGATGATGACCGGGGCTAGGAGGGTGCTGAGCTGGTCCTCCAGGGCAGGGAGCTGCAAAAATGGGGGAAAATTTCACAGCTTAGAGTGGGCCAGACACCAAGAACTAAGGAAGGGACAAGATCAGGCCTTGATATCAAGGGTTCCATAGTGTTAGACCCTCCTGGGAGGGTATCACTGTCCTGGTAGGGAGGGGAGCAAAAAGAGACTGTCCCCAACACTTCGGGTGGTGGTTAGGAAGAATGGGGAGGGCCAGCTGGGTAATGGTGCTGTTTAGGCTCTGAATCTAGAAGGAAACATTAAGGAATTGGGCCTCATTACAACAGTGGAATGTG
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ATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTGTGATTCTACATTTCATATTTTTAAATATTTCATAGTTATTTTATATTCTATACCTAATAGTTCCAATGTATCAAGTGCCTTGGGATCTAAATCTGTTGGTGATTGATTTTCCTGACTCTCACTCGTGGTGGCTTATTTTCTTCCATATCTGATTTTCTTCAGTTGTGAGTTCACGTTTGTTTGATCTTTACCTTTCCTGCTCTAGCAGTGGTTTTCAAAGTGTGGTTCCTGGACAAGCACAATAAACAGCACCTGGGAATTTTTTAGAAATGGAAGTTCTAGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTCACAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAATGCAAGTTCTAGAGCCCCCATCCCAGACTCGCTAAATGAGAAAAGCTGAAAGTGAGGCCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTACTGGCTGTAGTGCTGGTATCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTAAAGGTGGACGCCCCCTCTGACCTGACAGCTTCAAGTCCTGAGGACTCCCGCGCCCAGTAGTCACCTCCACGGCGAAGCACTGCTCCTACTCCCGCAGGCGGCTGTAGGTCCACAGCAGGCTCTGGAAGTGCTCCCACAGCTGGACACGCTGCGCCAGGTCTGGGGGCCGCAGCCTGGGGGCAGAGCCAGAGAGGGCGGGAGAGATCACAAGAAAGCTGGTCTCCCCCACACCCAACCAAAGGACCACAGTCTCAGCTCAGCATCAGAGCTTGGTGAGCCCATATGACCTGCCCACACAGCTGGGAAAGGGGGCCAGGTTTCCGGCCGAGCTCTAACTGTGGAGTGGGGTGGGATAGGCACGGAGCCGGAAGGCAGGCAGCTGAGCAAATCACCTCACTCCTCAGCCTCTGTCACACAAACACATGTCATACAAAGCCAGCTAGAGAGAGCCAGGGTGATGCTTAAGCTTCTCACACAGAGGCCACTGAACACAGAAAGATCTGGTCCATCATCAGGGCCCTACTCAGGGTCGCAGCCATCTCGGATGCTGGCAACGTCTGCACTGGCCACTGTGATTCATGTAACAGGCATCTGCCACCTGCAGCATTTGCCACTGACACCATGACCTATCTGGGCTAAAATGACTCATGAAACAATGTTTGTGCATTTGAGAAATGCCTCAATATGGGTAGTTGCTCATATCGCCACAAAACTAAAGTCCCAGAGCTTCACACTCCGCAGCTTCCCAATCCATCTTAGAGAATCAGGGGGTGGTGATACTACGAACTTCTCTTTTCTAGGTCTACATTTCAACTACAAGCCTTTTCTGGGGTCCCTCCCACCTCAGTGTATACTCTGAACCATGATTCTCTTTCCCCAAGTTCTTTACTGTGGGCCCAGAGACAGGTTTTAAGGTCTGTCTCCTGAGAAAACCTTCACGAGACTGTATGAATGTGCATGGGTTTGTGTTTTTCTGGAGAGAGAGTCTGAAGCTTGAGAAGCCAGAGAGGACTAGCTCAGACCAGATTTGTAATGACGGGTGATGATGTTGGGAGGATGGAAAGAGCACTGGACTGAGAGTCCTGAGCTCAAATATCCAGTTTGGATGTGGCCACCAACCAGCTAGATGACCCCAGGCAAGTGAGTTCCATTCTCTGCTCTGTTTCACCAGATATAAAGTCAGAGGGTCAGACCAGATGGTCTCCAAGGTTCACTTGAGCTGTTTCTCTGACCTAGGGACCCAGCTGGGGGCAGTATGTGAAAAATGGCAGCTTCACAGGGGCTGGGCACACGCTGCCTGGCCCAGCGAGGGTGCTCGGCAAAGGACAGAGGGGACCAGCTTTGAAGACTCACTCCTTTCGGATAAGATGACCGTCCACAGTCACCAGCCCAAAGTGCACTTCAAACAGGTACTTGAGCACATACAGCTTCCGCCGCAGGTCCCCCTCGCTCTCGGTGTGGTCACCATTGATGGCAATGAACAGGCATTCTCCAAACTGCAGGCACAGGCAGGCCAGTGTCAGCCAGCCCCAAGGGCACTCCCTTCACCTGCCCTGGTCTCTGCAGACAAGCCAGGGGAGGCTCGGGTCCCAGGCGGGTTTGATAAGATGCCGTTTCTGCCTTCTAAAGGAGTCTAAAGTTCCAAATAAGAGAGGCCTGTGGACTCCCCATCAAGCTGAGGGAAGAGGAACATGGGCCCCAGAGCTATAGACTCACCAGGTGAAGGACATACAGGAAGTTGCCATTTTCCGTGGAGAAGCAGGTGTAGGTGTCCGAGAGCTTCTCCAGCATCGTCATGGAGGAGATGATGACCGGGGCTAGGAGGGTGCTGAGCTGGTCCTCCAGGGCAGGGAGCTGCAAAAATGGGGGAAAATTTCACAGCTTAGAGTGGGCCAGACACCAAGAACTAAGGAAGGGACAAGATCAGGCCTTGATATCAAGGGTTCCATAGTGTTAGACCCTCCTGGGAGGGTATCACTGTCCTGGTAGGGAGGGGAGCAAAAAGAGACTGTCCCCAACACTTCGGGTGGTGGTTAGGAAGAATGGGGAGGGCCAGCTGGGTAATGGTGCTGTTTAGGCTCTGAATCTAGAAGGAAACATTAAGGAATTGGGCCTCATTACAACAGTGGAATGTG
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Task1_train_14357
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Gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not provided
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ATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTGTGATTCTACATTTCATATTTTTAAATATTTCATAGTTATTTTATATTCTATACCTAATAGTTCCAATGTATCAAGTGCCTTGGGATCTAAATCTGTTGGTGATTGATTTTCCTGACTCTCACTCGTGGTGGCTTATTTTCTTCCATATCTGATTTTCTTCAGTTGTGAGTTCACGTTTGTTTGATCTTTACCTTTCCTGCTCTAGCAGTGGTTTTCAAAGTGTGGTTCCTGGACAAGCACAATAAACAGCACCTGGGAATTTTTTAGAAATGGAAGTTCTAGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTCACAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAATGCAAGTTCTAGAGCCCCCATCCCAGACTCGCTAAATGAGAAAAGCTGAAAGTGAGGCCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTACTGGCTGTAGTGCTGGTATCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTAAAGGTGGACGCCCCCTCTGACCTGACAGCTTCAAGTCCTGAGGACTCCCGCGCCCAGTAGTCACCTCCACGGCGAAGCACTGCTCCTGCTCCCGCAGGCGGCTGTAGGTCCACAGCAGGCTCTGGAAGTGCTCCCACAGCTGGACACGCTGCGCCAGGTCTGGGGGCCGCAGCCTGGGGGCAGAGCCAGAGAGGGCGGGAGAGATCACAAGAAAGCTGGTCTCCCCCACACCCAACCAAAGGACCACAGTCTCAGCTCAGCATCAGAGCTTGGTGAGCCCATATGACCTGCCCACACAGCTGGGAAAGGGGGCCAGGTTTCCGGCCGAGCTCTAACTGTGGAGTGGGGTGGGATAGGCACGGAGCCGGAAGGCAGGCAGCTGAGCAAATCACCTCACTCCTCAGCCTCTGTCACACAAACACATGTCATACAAAGCCAGCTAGAGAGAGCCAGGGTGATGCTTAAGCTTCTCACACAGAGGCCACTGAACACAGAAAGATCTGGTCCATCATCAGGGCCCTACTCAGGGTCGCAGCCATCTCGGATGCTGGCAACGTCTGCACTGGCCACTGTGATTCATGTAACAGGCATCTGCCACCTGCAGCATTTGCCACTGACACCATGACCTATCTGGGCTAAAATGACTCATGAAACAATGTTTGTGCATTTGAGAAATGCCTCAATATGGGTAGTTGCTCATATCGCCACAAAACTAAAGTCCCAGAGCTTCACACTCCGCAGCTTCCCAATCCATCTTAGAGAATCAGGGGGTGGTGATACTACGAACTTCTCTTTTCTAGGTCTACATTTCAACTACAAGCCTTTTCTGGGGTCCCTCCCACCTCAGTGTATACTCTGAACCATGATTCTCTTTCCCCAAGTTCTTTACTGTGGGCCCAGAGACAGGTTTTAAGGTCTGTCTCCTGAGAAAACCTTCACGAGACTGTATGAATGTGCATGGGTTTGTGTTTTTCTGGAGAGAGAGTCTGAAGCTTGAGAAGCCAGAGAGGACTAGCTCAGACCAGATTTGTAATGACGGGTGATGATGTTGGGAGGATGGAAAGAGCACTGGACTGAGAGTCCTGAGCTCAAATATCCAGTTTGGATGTGGCCACCAACCAGCTAGATGACCCCAGGCAAGTGAGTTCCATTCTCTGCTCTGTTTCACCAGATATAAAGTCAGAGGGTCAGACCAGATGGTCTCCAAGGTTCACTTGAGCTGTTTCTCTGACCTAGGGACCCAGCTGGGGGCAGTATGTGAAAAATGGCAGCTTCACAGGGGCTGGGCACACGCTGCCTGGCCCAGCGAGGGTGCTCGGCAAAGGACAGAGGGGACCAGCTTTGAAGACTCACTCCTTTCGGATAAGATGACCGTCCACAGTCACCAGCCCAAAGTGCACTTCAAACAGGTACTTGAGCACATACAGCTTCCGCCGCAGGTCCCCCTCGCTCTCGGTGTGGTCACCATTGATGGCAATGAACAGGCATTCTCCAAACTGCAGGCACAGGCAGGCCAGTGTCAGCCAGCCCCAAGGGCACTCCCTTCACCTGCCCTGGTCTCTGCAGACAAGCCAGGGGAGGCTCGGGTCCCAGGCGGGTTTGATAAGATGCCGTTTCTGCCTTCTAAAGGAGTCTAAAGTTCCAAATAAGAGAGGCCTGTGGACTCCCCATCAAGCTGAGGGAAGAGGAACATGGGCCCCAGAGCTATAGACTCACCAGGTGAAGGACATACAGGAAGTTGCCATTTTCCGTGGAGAAGCAGGTGTAGGTGTCCGAGAGCTTCTCCAGCATCGTCATGGAGGAGATGATGACCGGGGCTAGGAGGGTGCTGAGCTGGTCCTCCAGGGCAGGGAGCTGCAAAAATGGGGGAAAATTTCACAGCTTAGAGTGGGCCAGACACCAAGAACTAAGGAAGGGACAAGATCAGGCCTTGATATCAAGGGTTCCATAGTGTTAGACCCTCCTGGGAGGGTATCACTGTCCTGGTAGGGAGGGGAGCAAAAAGAGACTGTCCCCAACACTTCGGGTGGTGGTTAGGAAGAATGGGGAGGGCCAGCTGGGTAATGGTGCTGTTTAGGCTCTGAATCTAGAAGGAAACATTAAGGAATTGGGCCTCATTACAACAGTGGAATGTGGGGAGCACTGAACGGGGAGCTG
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ATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGCTTTTGATGAAAAACCTAATATGGCACCAGGATTCTTTATTATATCTTTTAGTATATACATGGCTGATTTCCCCTCAAGGGCAGTGAATATGTCTTTATTCATCTCTTTATTCCCATGGCCTGGCACACCTCTTAGCATATAATAGGTACTATATGTTTATTGGAAGAGTGAATGAGTGGGGGTATGAGAATGAATTCCTTCAGATCTATTTTCCAGCTCATTAATTCTCCCTCTAGCTATGTCTCATCTGCTATTTAACACATCCCTTGAGTTTTTCATTTTAACAACTATGTTTTCTTTTCTAAAATATCTGTACGTGTTCTTTTTCAAATTTGCCTGGTCAATTTAGAGTTTCTTCTTATCTCATTTTGTGATTCTACATTTCATATTTTTAAATATTTCATAGTTATTTTATATTCTATACCTAATAGTTCCAATGTATCAAGTGCCTTGGGATCTAAATCTGTTGGTGATTGATTTTCCTGACTCTCACTCGTGGTGGCTTATTTTCTTCCATATCTGATTTTCTTCAGTTGTGAGTTCACGTTTGTTTGATCTTTACCTTTCCTGCTCTAGCAGTGGTTTTCAAAGTGTGGTTCCTGGACAAGCACAATAAACAGCACCTGGGAATTTTTTAGAAATGGAAGTTCTAGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTCACAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAATGCAAGTTCTAGAGCCCCCATCCCAGACTCGCTAAATGAGAAAAGCTGAAAGTGAGGCCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTACTGGCTGTAGTGCTGGTATCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTAAAGGTGGACGCCCCCTCTGACCTGACAGCTTCAAGTCCTGAGGACTCCCGCGCCCAGTAGTCACCTCCACGGCGAAGCACTGCTCCTGCTCCCGCAGGCGGCTGTAGGTTCACAGCAGGCTCTGGAAGTGCTCCCACAGCTGGACACGCTGCGCCAGGTCTGGGGGCCGCAGCCTGGGGGCAGAGCCAGAGAGGGCGGGAGAGATCACAAGAAAGCTGGTCTCCCCCACACCCAACCAAAGGACCACAGTCTCAGCTCAGCATCAGAGCTTGGTGAGCCCATATGACCTGCCCACACAGCTGGGAAAGGGGGCCAGGTTTCCGGCCGAGCTCTAACTGTGGAGTGGGGTGGGATAGGCACGGAGCCGGAAGGCAGGCAGCTGAGCAAATCACCTCACTCCTCAGCCTCTGTCACACAAACACATGTCATACAAAGCCAGCTAGAGAGAGCCAGGGTGATGCTTAAGCTTCTCACACAGAGGCCACTGAACACAGAAAGATCTGGTCCATCATCAGGGCCCTACTCAGGGTCGCAGCCATCTCGGATGCTGGCAACGTCTGCACTGGCCACTGTGATTCATGTAACAGGCATCTGCCACCTGCAGCATTTGCCACTGACACCATGACCTATCTGGGCTAAAATGACTCATGAAACAATGTTTGTGCATTTGAGAAATGCCTCAATATGGGTAGTTGCTCATATCGCCACAAAACTAAAGTCCCAGAGCTTCACACTCCGCAGCTTCCCAATCCATCTTAGAGAATCAGGGGGTGGTGATACTACGAACTTCTCTTTTCTAGGTCTACATTTCAACTACAAGCCTTTTCTGGGGTCCCTCCCACCTCAGTGTATACTCTGAACCATGATTCTCTTTCCCCAAGTTCTTTACTGTGGGCCCAGAGACAGGTTTTAAGGTCTGTCTCCTGAGAAAACCTTCACGAGACTGTATGAATGTGCATGGGTTTGTGTTTTTCTGGAGAGAGAGTCTGAAGCTTGAGAAGCCAGAGAGGACTAGCTCAGACCAGATTTGTAATGACGGGTGATGATGTTGGGAGGATGGAAAGAGCACTGGACTGAGAGTCCTGAGCTCAAATATCCAGTTTGGATGTGGCCACCAACCAGCTAGATGACCCCAGGCAAGTGAGTTCCATTCTCTGCTCTGTTTCACCAGATATAAAGTCAGAGGGTCAGACCAGATGGTCTCCAAGGTTCACTTGAGCTGTTTCTCTGACCTAGGGACCCAGCTGGGGGCAGTATGTGAAAAATGGCAGCTTCACAGGGGCTGGGCACACGCTGCCTGGCCCAGCGAGGGTGCTCGGCAAAGGACAGAGGGGACCAGCTTTGAAGACTCACTCCTTTCGGATAAGATGACCGTCCACAGTCACCAGCCCAAAGTGCACTTCAAACAGGTACTTGAGCACATACAGCTTCCGCCGCAGGTCCCCCTCGCTCTCGGTGTGGTCACCATTGATGGCAATGAACAGGCATTCTCCAAACTGCAGGCACAGGCAGGCCAGTGTCAGCCAGCCCCAAGGGCACTCCCTTCACCTGCCCTGGTCTCTGCAGACAAGCCAGGGGAGGCTCGGGTCCCAGGCGGGTTTGATAAGATGCCGTTTCTGCCTTCTAAAGGAGTCTAAAGTTCCAAATAAGAGAGGCCTGTGGACTCCCCATCAAGCTGAGGGAAGAGGAACATGGGCCCCAGAGCTATAGACTCACCAGGTGAAGGACATACAGGAAGTTGCCATTTTCCGTGGAGAAGCAGGTGTAGGTGTCCGAGAGCTTCTCCAGCATCGTCATGGAGGAGATGATGACCGGGGCTAGGAGGGTGCTGAGCTGGTCCTCCAGGGCAGGGAGCTGCAAAAATGGGGGAAAATTTCACAGCTTAGAGTGGGCCAGACACCAAGAACTAAGGAAGGGACAAGATCAGGCCTTGATATCAAGGGTTCCATAGTGTTAGACCCTCCTGGGAGGGTATCACTGTCCTGGTAGGGAGGGGAGCAAAAAGAGACTGTCCCCAACACTTCGGGTGGTGGTTAGGAAGAATGGGGAGGGCCAGCTGGGTAATGGTGCTGTTTAGGCTCTGAATCTAGAAGGAAACATTAAGGAATTGGGCCTCATTACAACAGTGGAATGTGGGGAGCACTGAACGGGGAGCTG
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Task1_train_14358
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This variant affects the gene HPSE2 (heparanase 2 (inactive)) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Urofacial syndrome type 1
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TTCTTCTTTCTCTTATTTCCTACCCCCCGCCCCGCCCCCATCTTGGTACTTCACTTTCCTGCCCTCTCAGAGCTGAAGCCTCAGTGGGAGGTGCCTGGTCCCAGAGAAACGGGTCCCTTCTGGGCAGCCTTGCAGGGCGGTCTCAGGGTCTGCCCCTCTCTCTCCAGTTGCTTCCATGCTGAGCACAGCCACTGACCTGGTGCAGCCTGGTCCTCGGGCTCTCCCTTTCTTGCTCGCTGTAGTACATCTGCTGTATGCTGTTCCTCCTGTGCTTAATGATAAGCATGTCAAAACCCGGTCCCCTCGCTTCCTGGAATTAGGTAGTCAGCTTCCCTCTCCCAAATCCACCGTTCTCCAAGCTCAGAATTCTCTCCCTCCTCTTTGGTCTAATCTCCCTTCCATCTCTCACTTTGCAGACTTGGCCCAAATCCTTAACTCCGTGTGCGTCTTAGGCAGCCTCCCTAGTCTCTGCCCTAGGCAACCCTGCCTTGCCCCCGCCCCATTCCTGTCCTTTCACAAACAGCAGAAATTGTATCACCGTCTCACTTGGAACAGTGTCAAATCTCTCCTCCTTCTAACAAAAGCATCATTCCTGTCATTTATCCTGAGAAAGAAAATCACATCCACAGAAAAGAAAGTCATTTCAGCTGTAGCTCATTGGCAAAGACCCTCATGCCCCTTGAATCATATAGAACGTCCTCATCCCCCACTTCACACCTGCCCAACTCAGAAGCTTCCTACCTACCATTCCATAGTTTTGGCCAGATCTTCATTCTCTAGATTCCCTATTCTCTCCCAAAATGGCTAACAAAGTTTTGTTCTAGCTCAAATAGGCTACTTGGGAAGAGGCAAAAAGGTTAGATTCAGTTGTGTCTTCCAGTGATGACCTTGATTCACACTTTTTTCTTCTTTTTTAAAAATAATGATTTGAGTTAACCAAACAATTAAGGGCTTACCCTATAGAGCCCCTAATATTCTCTTAATTTTGGAGAGGTCTAATTTGCTTTGTCCAGTTGGGGTGTGTGTGTGTACCTGATGTTTCAGTATGCTTTCTCTTTGTACTCAAACTCTCCCTCATAGCAACATGAAGAATGATGACTACTTTTTGTTGTGCCTAATAAACTGCTCTCCACTCAATGAATATTGTTACTTGACTCCCATTACAACTCTGGGGGAATCTGGATTCACAGAGGAATAGAACCTTCTTACCAAATCTGGAGTGTGATTGTAATTTTACTTTTGAAGCACCCGCTTCCCAGAAGAACTGCCAGTGATGGATGCCACTGTCAGGAACCCAGATGCGCACGCTCATACATCAGCCGGGAAATCATACAAACAGCTCTCCCAGCAGGCCAGGGCTGACACACCCATTACTCCCCTATGGAAAGAGATGTGTCAAAAAACTCAGGGCAGCAGCAAGAAAGAGGCAGAGAAGAAGGAGTTGGGAGAGGATGGGTTTTTGTAGGTCCACCCAGTTTTTTTCCTTCCTCATCTTCCTCTGAGGGCAGCAGCAGCAGCAGGCTAAGGTTTGGATTTGTGGTTATAATGCTGTGTGACAGGATCATGGGGAGTTGTCTGGAAACATTTCTCCTGGGAGTGTGCTGTCAGCTCGTTTTCATAGTGCACATGAAGGGAAACATTCTGCTCTATACACATGCCTTTATCCTTATATAGGTACAGGTGATGTCTACATTTTCCTTTGGGATGGATGTGGCCTACCTAGGCTAAGATCACGCTATGACATTTAGTCTCTTTGGAGAGCAAGTCTGTGTTGATTCCAGCAGGATGGGGCAGCAGGGGCTGGTTGCTAGGATGTCTGAAAACAGAGGATACTACTGGAGTGGAGGAGTGGAAGCAGCCCAGCAGGCCCACTGGTAGCCGTGAGTGTGAGGATAGCTTATCGGTAGCGGCAGGCCAAAGCATTGACATTCTTGACCACATAAAAGCCCATGGTGACTGGAGGGATGACCAATGTCCGGCCGGCCCGAAGGGGGCGGGGCTTCAATTCTGGGAGGGTCCCGTCGTCCACCATCACTAAGGGCTGGCCATTCAGTTGCACTGACCTACAGTGAGGAAAAACAGTATGGGACTCATTATTGCATTATAAGGGAGCCACTGCAACAAAGCCTAGCCCCAGATGGCCTGGCAGTGTCTGATACACACACACAGCTGACACTTATTGTTACTGGCTATGCCCTAGATTCTGACCTAGGTGCTTTACTTTAATAACTCATTCAAACATCCCAACAACCCCCCCACTCCCCTGAGGTAAGTAACTATTAATATCATTATCCCCATTTTATCTAGAGTGGCTAGGTGACTTGTCCCAAGTCACACAGCTTGGAGGTCCAGGGTTTGAACCCAGGTAGTCTACCTCCATAGACACATTTAGACAAGTGAAAAGTCTGTGATGCAGAAGCTGGAATGTTTCATTCCTATTTTTTAAAAATCACAATATCAGCTCAGTTTGACTTTTCCACCTAAAGAGTTTTTACCTGTGGAATGATACATGGGCTTAAGATGACTTCAGAAATCTATTTAACTCATATCTCATTAATTTACTTGACAGATTAGATAACTGACATTACCTTGCTTGTCTAAGGTTATACGGAAGGGAGACAGAGACATAGGTAACACCTCTACTTTTTCTAATTTAAGAATGAGTTTTGGCTGGGTGCAGTGGCTCATGCCTATAATCTCAGCATTTTGGGAGGCTGAAGAGGGAGGATCGCTTGAGTCCAGGAGTTTGAGACTAGCCTGAGCAACATAGCGAGACCCCATTTCTACAAACAATATAAAAGCAAAATTAGCCTGGCATGGTGGCTACTCAGGAGTTTGAAGTGGGAAGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCAAGATTACACCACTATACTCCATCCTGGGTGACAGAGAAACTCTGTCCCTAAAAAAAACAAAAAATGAGTTTTCATATTTAATATTAACAGATGTTTCCATTTAGCAAAACAGCAAAGTAAGTGATAAAGTAGGCATTTGTGATCACAATTCATCTATCTTGCTTTTATCCTTTCTGTATAGCCAGCCACTTTCACCCTGAGAAGGGGGACTACATACATAGCAAACTTAGAAAAGAGAAACAGCTCATCTTATGCTGGATAGAGGGAAATGCCACCTATCCTTGACCTATGGTACCAGAATCCAGATAATGTTCCAGCTGTTCCTGACAGCCATGCACCCAGGTGGAAGCTTAGTTTTATGGGTCAGCAGAAAAGGCCAGAAACAGGCCACCAGCTGGAAATAAGGTTGTGAGTCACCCTCAGAAAATCAACATTGCATAGTGATGACTGTTTCTGGGCCTTGCCCAACCTCCAGTGTGATAACATTGCCGTGACATCATCTGAGCTGTAAAGAGAATAGAATGTTATAAATTGATATAGAGGTCTTTGTTTAGTGTTCCTTCTGTGCTATGAATGATAGACTGCTTTAGAGAGAGATAATCAGACCCATGCCCAATAGAGCAGTGAATTCCCAGAGATAAGTGTGTTGTAAATTGCTCCCAATGGAGAGCTAGGCAGAGAAGAGATCCAGGCCTGGCCCCACATGGGTAAGTTTGGGCTAGGTCCAGATCTGATAGGCCAGAGGGAGCAGGCCCCCTCCCTTTGCTAGAATGACTGAGTGAATAAGTGAGTAGGAGGCTTCTATATGGAGAGCGAGGCCTGCCTCTGGAAGGCATGGGGTGGGAGAATTGAGATCTGAAGGTCAGTGTTGACCGCATCAGATATGCAAGGAGCTTTTGCTTCCAAATATGAGAAGTGACCCTCTGTAGTGAAGACAGCCTACTCATTGGAGTGGAAGGCAGGGTGAGGAGAGTGGTTCAGTTACAAAAGAAGCCCAGATGGGTCTTCACAGTGTATTTTCATTATTTTGTTTCAGGTGCTATGAATATCTATCACCCAGATATAAGCACAGTCAAACACGAGTTCAATAATACCGATTAATCTTTCTAAGGCATACTCAAATTTATATCAGGTCTCTGCTAGAAAACCTTCAATGGTTTCTCCCATATACAGAATTAGGTGCAAACCTTTCTTCTGAAGAATTAGGTAA
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TTCTTCTTTCTCTTATTTCCTACCCCCCGCCCCGCCCCCATCTTGGTACTTCACTTTCCTGCCCTCTCAGAGCTGAAGCCTCAGTGGGAGGTGCCTGGTCCCAGAGAAACGGGTCCCTTCTGGGCAGCCTTGCAGGGCGGTCTCAGGGTCTGCCCCTCTCTCTCCAGTTGCTTCCATGCTGAGCACAGCCACTGACCTGGTGCAGCCTGGTCCTCGGGCTCTCCCTTTCTTGCTCGCTGTAGTACATCTGCTGTATGCTGTTCCTCCTGTGCTTAATGATAAGCATGTCAAAACCCGGTCCCCTCGCTTCCTGGAATTAGGTAGTCAGCTTCCCTCTCCCAAATCCACCGTTCTCCAAGCTCAGAATTCTCTCCCTCCTCTTTGGTCTAATCTCCCTTCCATCTCTCACTTTGCAGACTTGGCCCAAATCCTTAACTCCGTGTGCGTCTTAGGCAGCCTCCCTAGTCTCTGCCCTAGGCAACCCTGCCTTGCCCCCGCCCCATTCCTGTCCTTTCACAAACAGCAGAAATTGTATCACCGTCTCACTTGGAACAGTGTCAAATCTCTCCTCCTTCTAACAAAAGCATCATTCCTGTCATTTATCCTGAGAAAGAAAATCACATCCACAGAAAAGAAAGTCATTTCAGCTGTAGCTCATTGGCAAAGACCCTCATGCCCCTTGAATCATATAGAACGTCCTCATCCCCCACTTCACACCTGCCCAACTCAGAAGCTTCCTACCTACCATTCCATAGTTTTGGCCAGATCTTCATTCTCTAGATTCCCTATTCTCTCCCAAAATGGCTAACAAAGTTTTGTTCTAGCTCAAATAGGCTACTTGGGAAGAGGCAAAAAGGTTAGATTCAGTTGTGTCTTCCAGTGATGACCTTGATTCACACTTTTTTCTTCTTTTTTAAAAATAATGATTTGAGTTAACCAAACAATTAAGGGCTTACCCTATAGAGCCCCTAATATTCTCTTAATTTTGGAGAGGTCTAATTTGCTTTGTCCAGTTGGGGTGTGTGTGTGTACCTGATGTTTCAGTATGCTTTCTCTTTGTACTCAAACTCTCCCTCATAGCAACATGAAGAATGATGACTACTTTTTGTTGTGCCTAATAAACTGCTCTCCACTCAATGAATATTGTTACTTGACTCCCATTACAACTCTGGGGGAATCTGGATTCACAGAGGAATAGAACCTTCTTACCAAATCTGGAGTGTGATTGTAATTTTACTTTTGAAGCACCCGCTTCCCAGAAGAACTGCCAGTGATGGATGCCACTGTCAGGAACCCAGATGCGCACGCTCATACATCAGCCGGGAAATCATACAAACAGCTCTCCCAGCAGGCCAGGGCTGACACACCCATTACTCCCCTATGGAAAGAGATGTGTCAAAAAACTCAGGGCAGCAGCAAGAAAGAGGCAGAGAAGAAGGAGTTGGGAGAGGATGGGTTTTTGTAGGTCCACCCAGTTTTTTTCCTTCCTCATCTTCCTCTGAGGGCAGCAGCAGCAGCAGGCTAAGGTTTGGATTTGTGGTTATAATGCTGTGTGACAGGATCATGGGGAGTTGTCTGGAAACATTTCTCCTGGGAGTGTGCTGTCAGCTCGTTTTCATAGTGCACATGAAGGGAAACATTCTGCTCTATACACATGCCTTTATCCTTATATAGGTACAGGTGATGTCTACATTTTCCTTTGGGATGGATGTGGCCTACCTAGGCTAAGATCACGCTATGACATTTAGTCTCTTTGGAGAGCAAGTCTGTGTTGATTCCAGCAGGATGGGGCAGCAGGGGCTGGTTGCTAGGATGTCTGAAAACAGAGGATACTACTGGAGTGGAGGAGTGGAAGCAGCCCAGCAGGCCCACTGGTAGCCGTGAGTGTGAGGATAGCTTATCGGTAGCGGCAGGCCAAAGCATTGACATTCTTGACCACATAAAAGCCCATGGTGACTGGAGGGATGACCAATGTCCGGCCGGCCCGAAGGGGGCGGGGCTTCAATTCTGGGAGGGTCCCGTCGTCCACCATCACTAAGGGCTGGCCAATCAGTTGCACTGACCTACAGTGAGGAAAAACAGTATGGGACTCATTATTGCATTATAAGGGAGCCACTGCAACAAAGCCTAGCCCCAGATGGCCTGGCAGTGTCTGATACACACACACAGCTGACACTTATTGTTACTGGCTATGCCCTAGATTCTGACCTAGGTGCTTTACTTTAATAACTCATTCAAACATCCCAACAACCCCCCCACTCCCCTGAGGTAAGTAACTATTAATATCATTATCCCCATTTTATCTAGAGTGGCTAGGTGACTTGTCCCAAGTCACACAGCTTGGAGGTCCAGGGTTTGAACCCAGGTAGTCTACCTCCATAGACACATTTAGACAAGTGAAAAGTCTGTGATGCAGAAGCTGGAATGTTTCATTCCTATTTTTTAAAAATCACAATATCAGCTCAGTTTGACTTTTCCACCTAAAGAGTTTTTACCTGTGGAATGATACATGGGCTTAAGATGACTTCAGAAATCTATTTAACTCATATCTCATTAATTTACTTGACAGATTAGATAACTGACATTACCTTGCTTGTCTAAGGTTATACGGAAGGGAGACAGAGACATAGGTAACACCTCTACTTTTTCTAATTTAAGAATGAGTTTTGGCTGGGTGCAGTGGCTCATGCCTATAATCTCAGCATTTTGGGAGGCTGAAGAGGGAGGATCGCTTGAGTCCAGGAGTTTGAGACTAGCCTGAGCAACATAGCGAGACCCCATTTCTACAAACAATATAAAAGCAAAATTAGCCTGGCATGGTGGCTACTCAGGAGTTTGAAGTGGGAAGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCAAGATTACACCACTATACTCCATCCTGGGTGACAGAGAAACTCTGTCCCTAAAAAAAACAAAAAATGAGTTTTCATATTTAATATTAACAGATGTTTCCATTTAGCAAAACAGCAAAGTAAGTGATAAAGTAGGCATTTGTGATCACAATTCATCTATCTTGCTTTTATCCTTTCTGTATAGCCAGCCACTTTCACCCTGAGAAGGGGGACTACATACATAGCAAACTTAGAAAAGAGAAACAGCTCATCTTATGCTGGATAGAGGGAAATGCCACCTATCCTTGACCTATGGTACCAGAATCCAGATAATGTTCCAGCTGTTCCTGACAGCCATGCACCCAGGTGGAAGCTTAGTTTTATGGGTCAGCAGAAAAGGCCAGAAACAGGCCACCAGCTGGAAATAAGGTTGTGAGTCACCCTCAGAAAATCAACATTGCATAGTGATGACTGTTTCTGGGCCTTGCCCAACCTCCAGTGTGATAACATTGCCGTGACATCATCTGAGCTGTAAAGAGAATAGAATGTTATAAATTGATATAGAGGTCTTTGTTTAGTGTTCCTTCTGTGCTATGAATGATAGACTGCTTTAGAGAGAGATAATCAGACCCATGCCCAATAGAGCAGTGAATTCCCAGAGATAAGTGTGTTGTAAATTGCTCCCAATGGAGAGCTAGGCAGAGAAGAGATCCAGGCCTGGCCCCACATGGGTAAGTTTGGGCTAGGTCCAGATCTGATAGGCCAGAGGGAGCAGGCCCCCTCCCTTTGCTAGAATGACTGAGTGAATAAGTGAGTAGGAGGCTTCTATATGGAGAGCGAGGCCTGCCTCTGGAAGGCATGGGGTGGGAGAATTGAGATCTGAAGGTCAGTGTTGACCGCATCAGATATGCAAGGAGCTTTTGCTTCCAAATATGAGAAGTGACCCTCTGTAGTGAAGACAGCCTACTCATTGGAGTGGAAGGCAGGGTGAGGAGAGTGGTTCAGTTACAAAAGAAGCCCAGATGGGTCTTCACAGTGTATTTTCATTATTTTGTTTCAGGTGCTATGAATATCTATCACCCAGATATAAGCACAGTCAAACACGAGTTCAATAATACCGATTAATCTTTCTAAGGCATACTCAAATTTATATCAGGTCTCTGCTAGAAAACCTTCAATGGTTTCTCCCATATACAGAATTAGGTGCAAACCTTTCTTCTGAAGAATTAGGTAA
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Task1_train_14359
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An alteration has been detected in COX15 (cytochrome c oxidase assembly homolog COX15) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Inborn genetic diseases
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GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAGAGTACAATTTCAGTAGCAAGAGTGTGTGGGTTTATGTGTAAGTGTGGGTAAATGTGTGAGTGTGTATGTATTGGGTTGGGTGAGGAAGATAATTACAGGGACTGAAAAGAAGGAATAGATTGTCAGGAAGCAGCAGCTATAGATGCAGGCAAAATGAATTCATTAAGATGAATTCATTTTAGAAGTCTGAATTAAAATGAATTCATTTTAGAAGTTTGGCTTTGATGGGCACGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAATTAGCCGAGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAATAAATAAATAAATACATAAGTAAATAAATGAAGTTTGGCTTTGAAAGTCAGGAGACTTTCAAATAATTCCTTATTTTTCAGATGTGGAATTATTCAGTGGTTGTCTACTGTATCAATATTTCAACCCAATTTGGCTTCTCTGTGGGAATGACTGCCAAGACAACACGTCCAGTCCTTACTGGGATCTAGCTACTAGCTCCAAGTACCTAATGGATGATTCGACTTAAGAGTCCTGCTGTCATCTCAAACTTTTCTCCAGGAACAGCTTACTCAGGTCAACCCATGATTTCAATACCTAATATAAGACTCTTTTTTTTTTTTTGGAGATGGAATTTCGCTCTTGTTGCCCAGGCTAGACTGCAATGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCATGGCTGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGACTCATTTAAAAAAAAATTCTAGGGAAAAAAATGTCCTATAAGGGTGTGGTGTCTTGGAACCTCTATTATTAATGAAGGCCTCAAAAAAATGTTATACCTTGCTTTTAAATCAAAGCATAAAATGAAAAACTAGTACTTTGCTTTAATCAGCAGACAGAAAAATACTTCAGACAAAATCACTAAGGTTTACTATTAGACTTAACTGGCAGGTCCCCATTTAACGAACAATATAGCTCTTGTCCACACCAGAAGTTCAGAAACACCTCTGTTCTGATCTTTCTCACTTTGCCATCCACCATCCCTTCTAGGAGTCAGAGGTAAAGCGACTGGGATATTTCTTGTTGTTGGTACTCCCTCCCACTCTATTTTTCAATTTGTTTCACCTTTGCCAATAGAAAATGTTGGCAAAATATTCAACTCCTATATGATCCAGCAATTCTACTTCTAGATATATATCCAAAAGAACCAAAAGCGGGGTCTTGAACACAGATATTTGCACACAACTCTTACCTTGTGCGGAGGGAGTAGCAGTGACAGTGAGGTCCACAAGCTGGCACAATAAAGAACCAGGGCTGATCCCAGGTGGGCAGCAAGGCGGTACTGACTGACCCGAGGGATGTCATGGGAGTCTGATTTTTCTTCTAGTCCACTTTTCACCATATACCATCCCAACAGACCCTAGAACCCCCAAGAGATGAAGCAAACAAAACAAGGTTAAAATGATCTGTTCAACTTTCTTTTTTTTGTTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGTTGCGCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTGTCAATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTACCAAAGTGCTGGTATTACAGGCGTAAGCCACCACACCCGGCCTGATCTGTTCAACTTTACTGAGGAAATGAGCTATCAGGAGTACTCTCTACCCCACCCCTCCTCTTTCCATACCCTCCCCAATACGCAGTGTCCCAAGATTCATGATTTATCCACAGTTCTTCACATATCACCATTAATACTTAACTACTATTTAGATCAGAAGTGTCTGATCTTTTGGCTTCCCTGGGCCACACTGGAAGAATTGTCTTGGGCCATGCATAAAATACACTAACACTAACAGTAGCTGATGAGCTTTAAAAAAAAAAAAAGGTCCATGGATATATCTCATAAAACTAGATTGAATGTTTTGGAGAAACTTAATAAAGGTAAATGCTTAAAAACATCTACTGTCAAGTTAGGTTGGAATAAGACAATTATAAAAGTTTCAGGGGAAAATCATAAAAATCAATAAGGTTTTGCATGCAGATCGCTTTGCAAATATCTAAGTTCCCACTCCGCTTTAAGCAAAACCACAGTTTATGGGGATATAAGAAACCTGCAGTTGAATGCCAATCTGGGGACGCATAGTCAAAGAAAAGGCCTTGATTTTGTAAAAGTTGGTAATGAACGTACAGATTTAAGTTTAAAAGTTTATGTTATGTATCATATTCTATGATTCTCTGCTTTAACTGGCTTTTTCAATTAACCAAACAATTGTTAGTTCCAATCATATGAAATAAGACAGCCCTTTCACTCCCACTTGCCAGTAGAATCAGGTCAAAGAGGTGGACTCTGCCACTTCTAAATATATACTCTTCAGGAAATCTTTTTGGGCATTTCTCTCCCCTTTCAAGATTACCCTGGATATTCTAATTACCTTGATTTCATCTGCAAGAGACATTGAAAGATGAAGACGTACACAGTTGATTCACTAGCCCACTTTCTTCTCCCATACCTTATCTGACATCTTTAATTTCTGCCTCCCTAATAGTGTTTTCAGTGTTGGCTTGTTTTTCTAATTCTAAAATGTTAACTTTCATTTTGTTCTACATGCCTTTCTCTGGTTACTATTAGACTTTGATTATTGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGAAATAGCTGGGACTACAGGCCCACGCCAGCATGCCCAGCTAATTTTGGTATTTTAGGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACTCCTGATCCCCCACCTTGGCTTCCGAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTTAATCCCTTCTAACTGACTCATTTTCTTACCACTTCTGAGTTAAATTAACCAATTAGCTTCCTCCTGATTAAATTTTGATGTTTCTTTGATGCCCTGATAATCTCCTTTAGGATCTCTAAACCTTGACCCAAATACTCCTATGTGTCTTCTCTTTTAATTTGTTGCTCAGTTTCACCCAACTTTTTTTTTTTCATCATTCTAGCAGTACTAACCTGTTAACTGTGGGAGTCTTTCCTTAAGAGGCGCTCAACTTA
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GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAGAGTACAATTTCAGTAGCAAGAGTGTGTGGGTTTATGTGTAAGTGTGGGTAAATGTGTGAGTGTGTATGTATTGGGTTGGGTGAGGAAGATAATTACAGGGACTGAAAAGAAGGAATAGATTGTCAGGAAGCAGCAGCTATAGATGCAGGCAAAATGAATTCATTAAGATGAATTCATTTTAGAAGTCTGAATTAAAATGAATTCATTTTAGAAGTTTGGCTTTGATGGGCACGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAATTAGCCGAGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAATAAATAAATAAATACATAAGTAAATAAATGAAGTTTGGCTTTGAAAGTCAGGAGACTTTCAAATAATTCCTTATTTTTCAGATGTGGAATTATTCAGTGGTTGTCTACTGTATCAATATTTCAACCCAATTTGGCTTCTCTGTGGGAATGACTGCCAAGACAACACGTCCAGTCCTTACTGGGATCTAGCTACTAGCTCCAAGTACCTAATGGATGATTCGACTTAAGAGTCCTGCTGTCATCTCAAACTTTTCTCCAGGAACAGCTTACTCAGGTCAACCCATGATTTCAATACCTAATATAAGACTCTTTTTTTTTTTTTGGAGATGGAATTTCGCTCTTGTTGCCCAGGCTAGACTGCAATGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCATGGCTGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGACTCATTTAAAAAAAAATTCTAGGGAAAAAAATGTCCTATAAGGGTGTGGTGTCTTGGAACCTCTATTATTAATGAAGGCCTCAAAAAAATGTTATACCTTGCTTTTAAATCAAAGCATAAAATGAAAAACTAGTACTTTGCTTTAATCAGCAGACAGAAAAATACTTCAGACAAAATCACTAAGGTTTACTATTAGACTTAACTGGCAGGTCCCCATTTAACGAACAATATAGCTCTTGTCCACACCAGAAGTTCAGAAACACCTCTGTTCTGATCTTTCTCACTTTGCCATCCACCATCCCTTCTAGGAGTCAGAGGTAAAGCGACTGGGATATTTCTTGTTGTTGGTACTCCCTCCCACTCTATTTTTCAATTTGTTTCACCTTTGCCAATAGAAAATGTTGGCAAAATATTCAACTCCTATATGATCCAGCAATTCTACTTCTAGATATATATCCAAAAGAACCAAAAGCGGGGTCTTGAACACAGATATTTGCACACAACTCTTACCTTGTGCGGAGGGAGTAGCAGTGACAGTGAGGTCCACAAGCTGGCACAATAAAGAACCAGGGCTGATCCCAGGTGGGCAGCAAGGCGGTACTGACTGACCCAAGGGATGTCATGGGAGTCTGATTTTTCTTCTAGTCCACTTTTCACCATATACCATCCCAACAGACCCTAGAACCCCCAAGAGATGAAGCAAACAAAACAAGGTTAAAATGATCTGTTCAACTTTCTTTTTTTTGTTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGTTGCGCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTGTCAATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTACCAAAGTGCTGGTATTACAGGCGTAAGCCACCACACCCGGCCTGATCTGTTCAACTTTACTGAGGAAATGAGCTATCAGGAGTACTCTCTACCCCACCCCTCCTCTTTCCATACCCTCCCCAATACGCAGTGTCCCAAGATTCATGATTTATCCACAGTTCTTCACATATCACCATTAATACTTAACTACTATTTAGATCAGAAGTGTCTGATCTTTTGGCTTCCCTGGGCCACACTGGAAGAATTGTCTTGGGCCATGCATAAAATACACTAACACTAACAGTAGCTGATGAGCTTTAAAAAAAAAAAAAGGTCCATGGATATATCTCATAAAACTAGATTGAATGTTTTGGAGAAACTTAATAAAGGTAAATGCTTAAAAACATCTACTGTCAAGTTAGGTTGGAATAAGACAATTATAAAAGTTTCAGGGGAAAATCATAAAAATCAATAAGGTTTTGCATGCAGATCGCTTTGCAAATATCTAAGTTCCCACTCCGCTTTAAGCAAAACCACAGTTTATGGGGATATAAGAAACCTGCAGTTGAATGCCAATCTGGGGACGCATAGTCAAAGAAAAGGCCTTGATTTTGTAAAAGTTGGTAATGAACGTACAGATTTAAGTTTAAAAGTTTATGTTATGTATCATATTCTATGATTCTCTGCTTTAACTGGCTTTTTCAATTAACCAAACAATTGTTAGTTCCAATCATATGAAATAAGACAGCCCTTTCACTCCCACTTGCCAGTAGAATCAGGTCAAAGAGGTGGACTCTGCCACTTCTAAATATATACTCTTCAGGAAATCTTTTTGGGCATTTCTCTCCCCTTTCAAGATTACCCTGGATATTCTAATTACCTTGATTTCATCTGCAAGAGACATTGAAAGATGAAGACGTACACAGTTGATTCACTAGCCCACTTTCTTCTCCCATACCTTATCTGACATCTTTAATTTCTGCCTCCCTAATAGTGTTTTCAGTGTTGGCTTGTTTTTCTAATTCTAAAATGTTAACTTTCATTTTGTTCTACATGCCTTTCTCTGGTTACTATTAGACTTTGATTATTGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGAAATAGCTGGGACTACAGGCCCACGCCAGCATGCCCAGCTAATTTTGGTATTTTAGGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACTCCTGATCCCCCACCTTGGCTTCCGAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTTAATCCCTTCTAACTGACTCATTTTCTTACCACTTCTGAGTTAAATTAACCAATTAGCTTCCTCCTGATTAAATTTTGATGTTTCTTTGATGCCCTGATAATCTCCTTTAGGATCTCTAAACCTTGACCCAAATACTCCTATGTGTCTTCTCTTTTAATTTGTTGCTCAGTTTCACCCAACTTTTTTTTTTTCATCATTCTAGCAGTACTAACCTGTTAACTGTGGGAGTCTTTCCTTAAGAGGCGCTCAACTTA
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Task1_train_14360
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This is a variant in COX15 (cytochrome c oxidase assembly homolog COX15), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
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GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAGAGTACAATTTCAGTAGCAAGAGTGTGTGGGTTTATGTGTAAGTGTGGGTAAATGTGTGAGTGTGTATGTATTGGGTTGGGTGAGGAAGATAATTACAGGGACTGAAAAGAAGGAATAGATTGTCAGGAAGCAGCAGCTATAGATGCAGGCAAAATGAATTCATTAAGATGAATTCATTTTAGAAGTCTGAATTAAAATGAATTCATTTTAGAAGTTTGGCTTTGATGGGCACGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAATTAGCCGAGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAATAAATAAATAAATACATAAGTAAATAAATGAAGTTTGGCTTTGAAAGTCAGGAGACTTTCAAATAATTCCTTATTTTTCAGATGTGGAATTATTCAGTGGTTGTCTACTGTATCAATATTTCAACCCAATTTGGCTTCTCTGTGGGAATGACTGCCAAGACAACACGTCCAGTCCTTACTGGGATCTAGCTACTAGCTCCAAGTACCTAATGGATGATTCGACTTAAGAGTCCTGCTGTCATCTCAAACTTTTCTCCAGGAACAGCTTACTCAGGTCAACCCATGATTTCAATACCTAATATAAGACTCTTTTTTTTTTTTTGGAGATGGAATTTCGCTCTTGTTGCCCAGGCTAGACTGCAATGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCATGGCTGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGACTCATTTAAAAAAAAATTCTAGGGAAAAAAATGTCCTATAAGGGTGTGGTGTCTTGGAACCTCTATTATTAATGAAGGCCTCAAAAAAATGTTATACCTTGCTTTTAAATCAAAGCATAAAATGAAAAACTAGTACTTTGCTTTAATCAGCAGACAGAAAAATACTTCAGACAAAATCACTAAGGTTTACTATTAGACTTAACTGGCAGGTCCCCATTTAACGAACAATATAGCTCTTGTCCACACCAGAAGTTCAGAAACACCTCTGTTCTGATCTTTCTCACTTTGCCATCCACCATCCCTTCTAGGAGTCAGAGGTAAAGCGACTGGGATATTTCTTGTTGTTGGTACTCCCTCCCACTCTATTTTTCAATTTGTTTCACCTTTGCCAATAGAAAATGTTGGCAAAATATTCAACTCCTATATGATCCAGCAATTCTACTTCTAGATATATATCCAAAAGAACCAAAAGCGGGGTCTTGAACACAGATATTTGCACACAACTCTTACCTTGTGCGGAGGGAGTAGCAGTGACAGTGAGGTCCACAAGCTGGCACAATAAAGAACCAGGGCTGATCCCAGGTGGGCAGCAAGGCGGTACTGACTGACCCGAGGGATGTCATGGGAGTCTGATTTTTCTTCTAGTCCACTTTTCACCATATACCATCCCAACAGACCCTAGAACCCCCAAGAGATGAAGCAAACAAAACAAGGTTAAAATGATCTGTTCAACTTTCTTTTTTTTGTTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGTTGCGCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTGTCAATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTACCAAAGTGCTGGTATTACAGGCGTAAGCCACCACACCCGGCCTGATCTGTTCAACTTTACTGAGGAAATGAGCTATCAGGAGTACTCTCTACCCCACCCCTCCTCTTTCCATACCCTCCCCAATACGCAGTGTCCCAAGATTCATGATTTATCCACAGTTCTTCACATATCACCATTAATACTTAACTACTATTTAGATCAGAAGTGTCTGATCTTTTGGCTTCCCTGGGCCACACTGGAAGAATTGTCTTGGGCCATGCATAAAATACACTAACACTAACAGTAGCTGATGAGCTTTAAAAAAAAAAAAAGGTCCATGGATATATCTCATAAAACTAGATTGAATGTTTTGGAGAAACTTAATAAAGGTAAATGCTTAAAAACATCTACTGTCAAGTTAGGTTGGAATAAGACAATTATAAAAGTTTCAGGGGAAAATCATAAAAATCAATAAGGTTTTGCATGCAGATCGCTTTGCAAATATCTAAGTTCCCACTCCGCTTTAAGCAAAACCACAGTTTATGGGGATATAAGAAACCTGCAGTTGAATGCCAATCTGGGGACGCATAGTCAAAGAAAAGGCCTTGATTTTGTAAAAGTTGGTAATGAACGTACAGATTTAAGTTTAAAAGTTTATGTTATGTATCATATTCTATGATTCTCTGCTTTAACTGGCTTTTTCAATTAACCAAACAATTGTTAGTTCCAATCATATGAAATAAGACAGCCCTTTCACTCCCACTTGCCAGTAGAATCAGGTCAAAGAGGTGGACTCTGCCACTTCTAAATATATACTCTTCAGGAAATCTTTTTGGGCATTTCTCTCCCCTTTCAAGATTACCCTGGATATTCTAATTACCTTGATTTCATCTGCAAGAGACATTGAAAGATGAAGACGTACACAGTTGATTCACTAGCCCACTTTCTTCTCCCATACCTTATCTGACATCTTTAATTTCTGCCTCCCTAATAGTGTTTTCAGTGTTGGCTTGTTTTTCTAATTCTAAAATGTTAACTTTCATTTTGTTCTACATGCCTTTCTCTGGTTACTATTAGACTTTGATTATTGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGAAATAGCTGGGACTACAGGCCCACGCCAGCATGCCCAGCTAATTTTGGTATTTTAGGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACTCCTGATCCCCCACCTTGGCTTCCGAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTTAATCCCTTCTAACTGACTCATTTTCTTACCACTTCTGAGTTAAATTAACCAATTAGCTTCCTCCTGATTAAATTTTGATGTTTCTTTGATGCCCTGATAATCTCCTTTAGGATCTCTAAACCTTGACCCAAATACTCCTATGTGTCTTCTCTTTTAATTTGTTGCTCAGTTTCACCCAACTTTTTTTTTTTCATCATTCTAGCAGTACTAACCTGTTAACTGTGGGAGTCTTTCCTTAAGAGGCGCTCAACTTA
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GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAGAGTACAATTTCAGTAGCAAGAGTGTGTGGGTTTATGTGTAAGTGTGGGTAAATGTGTGAGTGTGTATGTATTGGGTTGGGTGAGGAAGATAATTACAGGGACTGAAAAGAAGGAATAGATTGTCAGGAAGCAGCAGCTATAGATGCAGGCAAAATGAATTCATTAAGATGAATTCATTTTAGAAGTCTGAATTAAAATGAATTCATTTTAGAAGTTTGGCTTTGATGGGCACGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAATTAGCCGAGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAATAAATAAATAAATACATAAGTAAATAAATGAAGTTTGGCTTTGAAAGTCAGGAGACTTTCAAATAATTCCTTATTTTTCAGATGTGGAATTATTCAGTGGTTGTCTACTGTATCAATATTTCAACCCAATTTGGCTTCTCTGTGGGAATGACTGCCAAGACAACACGTCCAGTCCTTACTGGGATCTAGCTACTAGCTCCAAGTACCTAATGGATGATTCGACTTAAGAGTCCTGCTGTCATCTCAAACTTTTCTCCAGGAACAGCTTACTCAGGTCAACCCATGATTTCAATACCTAATATAAGACTCTTTTTTTTTTTTTGGAGATGGAATTTCGCTCTTGTTGCCCAGGCTAGACTGCAATGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCATGGCTGGCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGACTCATTTAAAAAAAAATTCTAGGGAAAAAAATGTCCTATAAGGGTGTGGTGTCTTGGAACCTCTATTATTAATGAAGGCCTCAAAAAAATGTTATACCTTGCTTTTAAATCAAAGCATAAAATGAAAAACTAGTACTTTGCTTTAATCAGCAGACAGAAAAATACTTCAGACAAAATCACTAAGGTTTACTATTAGACTTAACTGGCAGGTCCCCATTTAACGAACAATATAGCTCTTGTCCACACCAGAAGTTCAGAAACACCTCTGTTCTGATCTTTCTCACTTTGCCATCCACCATCCCTTCTAGGAGTCAGAGGTAAAGCGACTGGGATATTTCTTGTTGTTGGTACTCCCTCCCACTCTATTTTTCAATTTGTTTCACCTTTGCCAATAGAAAATGTTGGCAAAATATTCAACTCCTATATGATCCAGCAATTCTACTTCTAGATATATATCCAAAAGAACCAAAAGCGGGGTCTTGAACACAGATATTTGCACACAACTCTTACCTTGTGCGGAGGGAGTAGCAGTGACAGTGAGGTCCACAAGCTGGCACAATAAAGAACCAGGGCTGATCCCAGGTGGGCAGCAAGGCGGTACTGACTGACCCAAGGGATGTCATGGGAGTCTGATTTTTCTTCTAGTCCACTTTTCACCATATACCATCCCAACAGACCCTAGAACCCCCAAGAGATGAAGCAAACAAAACAAGGTTAAAATGATCTGTTCAACTTTCTTTTTTTTGTTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGTTGCGCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTGTCAATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTACCAAAGTGCTGGTATTACAGGCGTAAGCCACCACACCCGGCCTGATCTGTTCAACTTTACTGAGGAAATGAGCTATCAGGAGTACTCTCTACCCCACCCCTCCTCTTTCCATACCCTCCCCAATACGCAGTGTCCCAAGATTCATGATTTATCCACAGTTCTTCACATATCACCATTAATACTTAACTACTATTTAGATCAGAAGTGTCTGATCTTTTGGCTTCCCTGGGCCACACTGGAAGAATTGTCTTGGGCCATGCATAAAATACACTAACACTAACAGTAGCTGATGAGCTTTAAAAAAAAAAAAAGGTCCATGGATATATCTCATAAAACTAGATTGAATGTTTTGGAGAAACTTAATAAAGGTAAATGCTTAAAAACATCTACTGTCAAGTTAGGTTGGAATAAGACAATTATAAAAGTTTCAGGGGAAAATCATAAAAATCAATAAGGTTTTGCATGCAGATCGCTTTGCAAATATCTAAGTTCCCACTCCGCTTTAAGCAAAACCACAGTTTATGGGGATATAAGAAACCTGCAGTTGAATGCCAATCTGGGGACGCATAGTCAAAGAAAAGGCCTTGATTTTGTAAAAGTTGGTAATGAACGTACAGATTTAAGTTTAAAAGTTTATGTTATGTATCATATTCTATGATTCTCTGCTTTAACTGGCTTTTTCAATTAACCAAACAATTGTTAGTTCCAATCATATGAAATAAGACAGCCCTTTCACTCCCACTTGCCAGTAGAATCAGGTCAAAGAGGTGGACTCTGCCACTTCTAAATATATACTCTTCAGGAAATCTTTTTGGGCATTTCTCTCCCCTTTCAAGATTACCCTGGATATTCTAATTACCTTGATTTCATCTGCAAGAGACATTGAAAGATGAAGACGTACACAGTTGATTCACTAGCCCACTTTCTTCTCCCATACCTTATCTGACATCTTTAATTTCTGCCTCCCTAATAGTGTTTTCAGTGTTGGCTTGTTTTTCTAATTCTAAAATGTTAACTTTCATTTTGTTCTACATGCCTTTCTCTGGTTACTATTAGACTTTGATTATTGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGAAATAGCTGGGACTACAGGCCCACGCCAGCATGCCCAGCTAATTTTGGTATTTTAGGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACTCCTGATCCCCCACCTTGGCTTCCGAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTTAATCCCTTCTAACTGACTCATTTTCTTACCACTTCTGAGTTAAATTAACCAATTAGCTTCCTCCTGATTAAATTTTGATGTTTCTTTGATGCCCTGATAATCTCCTTTAGGATCTCTAAACCTTGACCCAAATACTCCTATGTGTCTTCTCTTTTAATTTGTTGCTCAGTTTCACCCAACTTTTTTTTTTTCATCATTCTAGCAGTACTAACCTGTTAACTGTGGGAGTCTTTCCTTAAGAGGCGCTCAACTTA
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Task1_train_14361
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Given this context: Chromosome 10, gene ABCC2 (ATP binding cassette subfamily C member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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GCTGCATAGTATTCCATGGTATATATGTACCACATTTTCTTTATCCAGTCTATCATTGATGATGCCCGGCTAATTTTTGTACTTTTAGTAGAGGCGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTATCACTACTTGTACCAAACAGAGGAGTATCTATAGATTTTCAGCTTTTTTTCTTAAGATCTTCATATATATATTGCTAAGGGTTTCTTTTTAAGTATGAGAATGCTTCCTCCAATTGATTTATATTGACCTGCTTGACAAAAAAATGTAAGAACCAGCTGTTCTACCATATACTGACATCATTTCCTGATTTAGCAATCACTAATGAACTAATCTGCAATTTAAAAAACATGCGCTATAGCAGAGCAGGCTACAGATTTAAGTCTGTCTTCTAACTCCTTTTGGGAAGCTTTTTTCTTGCTAACTCATAACTGGGTTCTTCCTCAAACACAGGCCTTTGTTGGTCTCCATTTCTGGTCTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTAATCCACCTGCCTCAGCCTCCCAGTGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTCCATCTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGCCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACTTGTGCCACCAAGCCCAGCTACTTTTTGTGTTTTTAGCAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCACTCCCGATCTCAGGTGATCCGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGTTTCCATCTCTCTTTGGTTATAATCTTGCTTCTTAAGATGTCATCTATACCATGGGTCCCCAACCCCGTGGGCCTCAGACTGGTACTGTTCCATGGCCTGTTGGGAACCAGGCTACACAGGAGAAGGTGAGCGGCGAGCGAGCATTATCACCTGAGCTCCACCTCCTGTCAGATCAGCAGCAGCATTAGATTCTCATAGGACCATGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTTGCATCTACTGCCTGATGATCTGAGGTGGAACAGTTTCATCCCGAAACCATCTCCCACCACCACCCCATCTATGGAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAATGGTGAAGAGGATATTGAGTCCTGAGAGTGGAATAACTACAAGCACGTGAATACATATCAGATCCTCAGTCATCCTGATGCACAGTTATTTAAATTTAAGCTCCATTTGTTTCTTCCCCTCTCCAGCCACCCCGTCCTTCAACCCTGCGTTTCTGGAGGTGCAGCTGTAACATGATCTGATCCTTTTTCATCTAGGGCACCACTGCCTATGTCCCACAGCAGTCCTGGATTCAGAATGGCACCATAAAGGACAACATCCTTTTTGGAACAGAGTTTAATGAAAAGAGGTACCAGCAAGTACTGGAGGCCTGTGCTCTCCTCCCAGACTTGGAAATGCTGCCTGGAGGAGATTTGGCTGAGATTGGAGAGAAGGTACTTGGGATAACAAGGGATCTTCAAGGGTGAAGGCATATTGAAGAGAAAAAGTGAGGATGGTGGTGAAGAACTACACAGGGGTAATCTAGTTGATTAATTTAGGTAGTCATATTTGGAATAAACACCAGAAATCATGTGTTTGTACTAAGTGGCCACAATATTCCATGTAAATAACTCAGAATTTCAAACTTTCTGCTTGGAAACAGATACAGGAATTATGTAATTTAAATCAAAGATGATGAGGCAAAGGCCATGAGAAGTTAACAGTGACTGGCCCAAGGTTGATCTCACAGGTGGTGGGGCAGAAGTGGGACCAGAGCCTAGGTGTCCTGATTCTACTTCTGTATCAGTGAGGCCAGAGGAAGATTCTACTAATCTGCTTTGAACACTTAGATGTTTATTGTGAATTATCTTTTGATGTTATTAAAGGCCTTTCCTAAAAATAGACTTTTAGGGTTGGGCACAGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTGACCAACAAGGTGAAACCCCATCTCAACTAAAAATACAAAAATTAGCCGGGTGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCAGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTAGGAGATGGAGCAAGACTCCATCTCAAAAAAAAAAAGATTTTTAATGACTGTATTGTATTTATTATATAGATCTAGCATAATTTATTTTGAAACCTCTAAATAAAGACCCTGCATATTTAGGATGTTTTCATCCTCCCTCCCCATTACTAGAAATAAATGTAGCAATCTTGGGGAACAAAAATCTTGAGATGTTAGAAGATTAATGAAGATACAGCTCTGGAGTAATTTTGTTCATTAATTAGCATACGCTTATTGAGCACCTACTATGTGCCAAACAGTGTTTTAAGTTCTGGAATTACATCCATGAACAAAATAGAAAAAACCTCTGCTCTACATTGTCACAGGGTGACAAGCAACAAAACTATTAAATAAGTAAATTATCTGATAAAAAGTGGTAAGTTGGCCATATCTAATTATTAGGACTAAAGTTATTTATTTGAATCAGTTCTTTATTTGTATAAAGGAACTTGTAAGATTTTTAACCCCTTGACACCTTATTGAGACAAATTTCTTCCTTTTACCCCTCCCTATTAGATTCTGTGAAGGTGGATCTAGGGAGTAGTGCTTAATATGAATTATTTTCTTCTTCAGGGTATAAATCTTAGTGGGGGTCAGAAGCAGCGGATCAGCCTGGCCAGAGCTACCTACCAAAATTTAGACATCTATCTTCTAGATGACCCCCTGTCTGCAGTGGATGCTCATGTAGGAAAACATATTTTTAATAAGGTCTTGGGCCCCAATGGCCTGTTGAAAGGCAAGGTGAGAAATCATTGAACATGATGAAGATATAAAGGTGGGGTGGGAGGGAGAGGGGAGGACATGTCTGGCAAGTAAGACAGGGAAGATGGTGGACATATGGTAATCAACACAACTTCATATTATTTTTATAGACTCGACTCTTGGTTACACATAGCATGCACTTTCTTCCTCAAGTGGATGAGATTGTAGTTCTGGGGAATGGAACAATTGTAGAGAAAGGATCCTACAGTGCTCTCCTGGCCAAAAAAGGAGAGTTTGCTAAGAATCTGAAGACATTTCTAAGACATACAGGCCCTGAAGAGGAAGCCACAGGTATGTAAGAAGGATTGGGACAAGATAGAACTTGGGCCATGGGTGGAATGGTAAATCAATATCTAATTCCTGAACTGCTCAGTATCCAGTGAACTAGATTTGGAAGCAAACTACCC
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GCTGCATAGTATTCCATGGTATATATGTACCACATTTTCTTTATCCAGTCTATCATTGATGATGCCCGGCTAATTTTTGTACTTTTAGTAGAGGCGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTATCACTACTTGTACCAAACAGAGGAGTATCTATAGATTTTCAGCTTTTTTTCTTAAGATCTTCATATATATATTGCTAAGGGTTTCTTTTTAAGTATGAGAATGCTTCCTCCAATTGATTTATATTGACCTGCTTGACAAAAAAATGTAAGAACCAGCTGTTCTACCATATACTGACATCATTTCCTGATTTAGCAATCACTAATGAACTAATCTGCAATTTAAAAAACATGCGCTATAGCAGAGCAGGCTACAGATTTAAGTCTGTCTTCTAACTCCTTTTGGGAAGCTTTTTTCTTGCTAACTCATAACTGGGTTCTTCCTCAAACACAGGCCTTTGTTGGTCTCCATTTCTGGTCTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTAATCCACCTGCCTCAGCCTCCCAGTGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTCCATCTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGCCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACTTGTGCCACCAAGCCCAGCTACTTTTTGTGTTTTTAGCAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCACTCCCGATCTCAGGTGATCCGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGTTTCCATCTCTCTTTGGTTATAATCTTGCTTCTTAAGATGTCATCTATACCATGGGTCCCCAACCCCGTGGGCCTCAGACTGGTACTGTTCCATGGCCTGTTGGGAACCAGGCTACACAGGAGAAGGTGAGCGGCGAGCGAGCATTATCACCTGAGCTCCACCTCCTGTCAGATCAGCAGCAGCATTAGATTCTCATAGGACCATGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTTGCATCTACTGCCTGATGATCTGAGGTGGAACAGTTTCATCCCGAAACCATCTCCCACCACCACCCCATCTATGGAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAATGGTGAAGAGGATATTGAGTCCTGAGAGTGGAATAACTACAAGCACGTGAATACATATCAGATCCTCAGTCATCCTGATGCACAGTTATTTAAATTTAAGCTCCATTTGTTTCTTCCCCTCTCCAGCCACCCCGTCCTTCAACCCTGCGTTTCTGGAGGTGCAGCTGTAACATGATCTGATCCTTTTTCATCTAGGGCACCACTGCCTATGTCCCACAGCAGTCCCGGATTCAGAATGGCACCATAAAGGACAACATCCTTTTTGGAACAGAGTTTAATGAAAAGAGGTACCAGCAAGTACTGGAGGCCTGTGCTCTCCTCCCAGACTTGGAAATGCTGCCTGGAGGAGATTTGGCTGAGATTGGAGAGAAGGTACTTGGGATAACAAGGGATCTTCAAGGGTGAAGGCATATTGAAGAGAAAAAGTGAGGATGGTGGTGAAGAACTACACAGGGGTAATCTAGTTGATTAATTTAGGTAGTCATATTTGGAATAAACACCAGAAATCATGTGTTTGTACTAAGTGGCCACAATATTCCATGTAAATAACTCAGAATTTCAAACTTTCTGCTTGGAAACAGATACAGGAATTATGTAATTTAAATCAAAGATGATGAGGCAAAGGCCATGAGAAGTTAACAGTGACTGGCCCAAGGTTGATCTCACAGGTGGTGGGGCAGAAGTGGGACCAGAGCCTAGGTGTCCTGATTCTACTTCTGTATCAGTGAGGCCAGAGGAAGATTCTACTAATCTGCTTTGAACACTTAGATGTTTATTGTGAATTATCTTTTGATGTTATTAAAGGCCTTTCCTAAAAATAGACTTTTAGGGTTGGGCACAGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTGACCAACAAGGTGAAACCCCATCTCAACTAAAAATACAAAAATTAGCCGGGTGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCAGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTAGGAGATGGAGCAAGACTCCATCTCAAAAAAAAAAAGATTTTTAATGACTGTATTGTATTTATTATATAGATCTAGCATAATTTATTTTGAAACCTCTAAATAAAGACCCTGCATATTTAGGATGTTTTCATCCTCCCTCCCCATTACTAGAAATAAATGTAGCAATCTTGGGGAACAAAAATCTTGAGATGTTAGAAGATTAATGAAGATACAGCTCTGGAGTAATTTTGTTCATTAATTAGCATACGCTTATTGAGCACCTACTATGTGCCAAACAGTGTTTTAAGTTCTGGAATTACATCCATGAACAAAATAGAAAAAACCTCTGCTCTACATTGTCACAGGGTGACAAGCAACAAAACTATTAAATAAGTAAATTATCTGATAAAAAGTGGTAAGTTGGCCATATCTAATTATTAGGACTAAAGTTATTTATTTGAATCAGTTCTTTATTTGTATAAAGGAACTTGTAAGATTTTTAACCCCTTGACACCTTATTGAGACAAATTTCTTCCTTTTACCCCTCCCTATTAGATTCTGTGAAGGTGGATCTAGGGAGTAGTGCTTAATATGAATTATTTTCTTCTTCAGGGTATAAATCTTAGTGGGGGTCAGAAGCAGCGGATCAGCCTGGCCAGAGCTACCTACCAAAATTTAGACATCTATCTTCTAGATGACCCCCTGTCTGCAGTGGATGCTCATGTAGGAAAACATATTTTTAATAAGGTCTTGGGCCCCAATGGCCTGTTGAAAGGCAAGGTGAGAAATCATTGAACATGATGAAGATATAAAGGTGGGGTGGGAGGGAGAGGGGAGGACATGTCTGGCAAGTAAGACAGGGAAGATGGTGGACATATGGTAATCAACACAACTTCATATTATTTTTATAGACTCGACTCTTGGTTACACATAGCATGCACTTTCTTCCTCAAGTGGATGAGATTGTAGTTCTGGGGAATGGAACAATTGTAGAGAAAGGATCCTACAGTGCTCTCCTGGCCAAAAAAGGAGAGTTTGCTAAGAATCTGAAGACATTTCTAAGACATACAGGCCCTGAAGAGGAAGCCACAGGTATGTAAGAAGGATTGGGACAAGATAGAACTTGGGCCATGGGTGGAATGGTAAATCAATATCTAATTCCTGAACTGCTCAGTATCCAGTGAACTAGATTTGGAAGCAAACTACCC
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Task1_train_14362
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The gene ABCC2 (ATP binding cassette subfamily C member 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Dubin-Johnson syndrome
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GTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGCAGCTGGATTACATGCTTCCTGGGGATAATCAGCACCCTTGTCATGATCTGCATGGCCACTCCTGTCTTCACCATCATCGTCATTCCTCTTGGCATTATTTATGTATCTGTTCAGGTAGGTTTGGAAATGGCTAAGTCATCCTTCCTTCCTCTCTATCTATAAAAGCCCAGCCTCTTTCCTGAGAATCTTCTCTCTGATTCATTGCTAGTCACTCACTCCTCCCCTCAGCAGCTTTGCCATTTAGTCATATGTTGACATACCCAGGAGCCCACAGGCCACTGTCTGAAGCTGAAGTGAGAGCATCAATGGGTGCACCATTTATGGCAAATGTCACCCTAACTGCTGCCCACCCTTCACTCCCTGGAAGCTTAGGTCGGACAGATTTACGTTTGGATCCAAGACTACTTTGAGATTGGCTCTGGACACAGTCTTGCAGCTCCATAAGAACCCCCATGACGATTAGGTCGGTTCCAGAAGAGCCATGCTATGGTGCTTCCTTGGTTGACTTTGGACAGGCATAGCTGCTTGGAGATGTCTCTCAGCAGCAGCTGGGTCTTTCTTTTTACTTCGGCAAAGTTCTAGTTTCACTGGGGTGTCTGTGGGTGGTTTAGGCTCAATTCCAGTGTATTCTTCGAGGGAATGTGCAGCTTGAAAGCAAAACAGGGAAACTGGAACGAGTGGAAGGAACCCTATTCCCACAATAAAATGGATGAGGGAAGGGGAGGCTGTGGAGGAACTCTGGTCCCACCAGCTGCTTTTGTGGTGAATTGTTTGCCTGGGGAAACAATTCTGAAGACACTGATCAGGGGCTCGTGGCCTTGTGGCCTGCGATTGGCGGCTCGCCCCCATGTCCGTGTACAGTTCCTCAGGCACATTGTCACCATAGCGGCCTTTTAACTATTAATAACAAGCCAACAAACAAGAAGCAGGGTTATTGGAGGGAACATCTGTATGTCCATGTATAACATTTTGCATCCCGTCTCTCCAACGCCCCACTCTTCCCAGGTTTCAACAAATCCTCACAGAATCTAGTAGCAGCACGGACCCATTCCACTCCCCCTTGCCCTCAGGCCACAGGGTTCTTCCCTGCATTGGATTCTACCCTGTTCCAGTTCTTACCCCCTCAGCACTCTGCATACCTCCAGAATTCTCTGTACCTTCACACACCACCGAGGCACAGTTTTGGTCACTTAATTGAACAGATTCTTCCCTTTTTACCCAAACCTAGGCATGCCTTTTTCTGGCCATTTCCTGCCCATCCCCACTTTACACACCCCACGGGCCCCACTGCCTTTACAAAATCCTTTTGGGGACCTTTTCTCTAATGAGTACAGAAACTGTCACATGGATGATAGCCGTAGATCTGGGGGATATGGGTTAGGCTGACGGAACTCCTTAGGAGGTTTGGAGACTCAAAGCTCTGAGGCTGCAGTGTGCTCTCCTCACGTTCACCCCACTCTGTTCCCCACCAACCCCAGTCTTCTCATTGGTCTCCTCCTCGGAGCCTCTCATCATTCTGCTCCCAGACATGGCACTGCAGGCTTTTGTCTTGTTCAGACGTAAGCTGTGCCCATCAAGGGGAAGAATGCTGGGTTGTGGCCAGAAAGGAGGAAGATGGTGGATGCCTCATGACTGCGGGACTGGCTGATTCTTTACTTTTTGTGTCCAGATGTTTTATGTGTCTACCTCCCGCCAGCTGAGGCGTCTGGACTCTGTCACCAGGTCCCCAATCTACTCTCACTTCAGCGAGACCGTATCAGGTTTGCCAGTTATCCGTGCCTTTGAGCACCAGCAGCGATTTCTGAAACACAATGAGGTGAGGATTGACACCAACCAGAAATGTGTCTTTTCCTGGATCACCTCCAACAGGTGAGGCTTCCCCTGGGTATTTACCCATGTGTGTACTTTGGGGTTCTATATGTTTGATATTAGCGGTGGGAGGGCAGGCATGGCTAGTGGTGTGAAATTCACTCTGGCCACACACACTGTCATGCTATGTAAGTGGAGAGAAGAAAGCATGAGCTTTGGAGTCAGAGACTGGGTCCCCATGACAGCTCTGCCGTTTACCAAGCTGGGTGAATTGCCTTGACTTCTCTAAGGAGAATCTCCATTTCTTTGTTTTTGTAATGGCCAGAACACACCCTATCTCACAGGGTTCCACCTGTCTCATGGTGGAAGTCAAATGACATTTGTGAGCATTTTGTAACCCAGTACCAAATAAGTGCTGGGTGAACTGAACATCCTCTGTTTACTTTTCTGAGAACGGATGTGAGATTCTCCATAGTCATGACACTCTTTCTGGGTAGTGAAGGCAGTGGAGGTTGGAGAGAGGAGAGTTGGGAATTTTTAGGTAAGACCATTGATGACAGAAAGGGAAGCTTCCGTCTTGTGAACAGGGTGAGCATTATTCTCCAGTATCCTTAAGCCCTGGCAAGCAGTATGTCCTGGAAAGAGGAAGATCTTTTTCAGGAAGAAAAATTCTTGAGTGGCTTCCAAAGTGTCTTGAGGCGCTAAAGATGCTCAGCATTATTTGGAATGTGGACAGGTCAGGAGTTTGATTGTAAAGATATTTTATTTCTTAGAGACTTTCTAAGAAGGAAAAGGCATATAAGTAAATCTTATTAGACCTTCACTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTCTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
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GTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGCAGCTGGATTACATGCTTCCTGGGGATAATCAGCACCCTTGTCATGATCTGCATGGCCACTCCTGTCTTCACCATCATCGTCATTCCTCTTGGCATTATTTATGTATCTGTTCAGGTAGGTTTGGAAATGGCTAAGTCATCCTTCCTTCCTCTCTATCTATAAAAGCCCAGCCTCTTTCCTGAGAATCTTCTCTCTGATTCATTGCTAGTCACTCACTCCTCCCCTCAGCAGCTTTGCCATTTAGTCATATGTTGACATACCCAGGAGCCCACAGGCCACTGTCTGAAGCTGAAGTGAGAGCATCAATGGGTGCACCATTTATGGCAAATGTCACCCTAACTGCTGCCCACCCTTCACTCCCTGGAAGCTTAGGTCGGACAGATTTACGTTTGGATCCAAGACTACTTTGAGATTGGCTCTGGACACAGTCTTGCAGCTCCATAAGAACCCCCATGACGATTAGGTCGGTTCCAGAAGAGCCATGCTATGGTGCTTCCTTGGTTGACTTTGGACAGGCATAGCTGCTTGGAGATGTCTCTCAGCAGCAGCTGGGTCTTTCTTTTTACTTCGGCAAAGTTCTAGTTTCACTGGGGTGTCTGTGGGTGGTTTAGGCTCAATTCCAGTGTATTCTTCGAGGGAATGTGCAGCTTGAAAGCAAAACAGGGAAACTGGAACGAGTGGAAGGAACCCTATTCCCACAATAAAATGGATGAGGGAAGGGGAGGCTGTGGAGGAACTCTGGTCCCACCAGCTGCTTTTGTGGTGAATTGTTTGCCTGGGGAAACAATTCTGAAGACACTGATCAGGGGCTCGTGGCCTTGTGGCCTGCGATTGGCGGCTCGCCCCCATGTCCGTGTACAGTTCCTCAGGCACATTGTCACCATAGCGGCCTTTTAACTATTAATAACAAGCCAACAAACAAGAAGCAGGGTTATTGGAGGGAACATCTGTATGTCCATGTATAACATTTTGCATCCCGTCTCTCCAACGCCCCACTCTTCCCAGGTTTCAACAAATCCTCACAGAATCTAGTAGCAGCACGGACCCATTCCACTCCCCCTTGCCCTCAGGCCACAGGGTTCTTCCCTGCATTGGATTCTACCCTGTTCCAGTTCTTACCCCCTCAGCACTCTGCATACCTCCAGAATTCTCTGTACCTTCACACACCACCGAGGCACAGTTTTGGTCACTTAATTGAACAGATTCTTCCCTTTTTACCCAAACCTAGGCATGCCTTTTTCTGGCCATTTCCTGCCCATCCCCACTTTACACACCCCACGGGCCCCACTGCCTTTACAAAATCCTTTTGGGGACCTTTTCTCTAATGAGTACAGAAACTGTCACATGGATGATAGCCGTAGATCTGGGGGATATGGGTTAGGCTGACGGAACTCCTTAGGAGGTTTGGAGACTCAAAGCTCTGAGGCTGCAGTGTGCTCTCCTCACGTTCACCCCACTCTGTTCCCCACCAACCCCAGTCTTCTCATTGGTCTCCTCCTCGGAGCCTCTCATCATTCTGCTCCCAGACATGGCACTGCAGGCTTTTGTCTTGTTCAGACGTAAGCTGTGCCCATCAAGGGGAAGAATGCTGGGTTGTGGCCAGAAAGGAGGAAGATGGTGGATGCCTCATGACTGCGGGACTGGCTGATTCTTTACTTTTTGTGTCCAGATGTTTTATGTGTCTACCTCCCGCCAGCTGAGGCGTCTGGACTCTGTCACCAGGTCCCCAATCTACTCTCACTTCAGCGAGACCGTATCAGGTTTGCCAGTTTTCCGTGCCTTTGAGCACCAGCAGCGATTTCTGAAACACAATGAGGTGAGGATTGACACCAACCAGAAATGTGTCTTTTCCTGGATCACCTCCAACAGGTGAGGCTTCCCCTGGGTATTTACCCATGTGTGTACTTTGGGGTTCTATATGTTTGATATTAGCGGTGGGAGGGCAGGCATGGCTAGTGGTGTGAAATTCACTCTGGCCACACACACTGTCATGCTATGTAAGTGGAGAGAAGAAAGCATGAGCTTTGGAGTCAGAGACTGGGTCCCCATGACAGCTCTGCCGTTTACCAAGCTGGGTGAATTGCCTTGACTTCTCTAAGGAGAATCTCCATTTCTTTGTTTTTGTAATGGCCAGAACACACCCTATCTCACAGGGTTCCACCTGTCTCATGGTGGAAGTCAAATGACATTTGTGAGCATTTTGTAACCCAGTACCAAATAAGTGCTGGGTGAACTGAACATCCTCTGTTTACTTTTCTGAGAACGGATGTGAGATTCTCCATAGTCATGACACTCTTTCTGGGTAGTGAAGGCAGTGGAGGTTGGAGAGAGGAGAGTTGGGAATTTTTAGGTAAGACCATTGATGACAGAAAGGGAAGCTTCCGTCTTGTGAACAGGGTGAGCATTATTCTCCAGTATCCTTAAGCCCTGGCAAGCAGTATGTCCTGGAAAGAGGAAGATCTTTTTCAGGAAGAAAAATTCTTGAGTGGCTTCCAAAGTGTCTTGAGGCGCTAAAGATGCTCAGCATTATTTGGAATGTGGACAGGTCAGGAGTTTGATTGTAAAGATATTTTATTTCTTAGAGACTTTCTAAGAAGGAAAAGGCATATAAGTAAATCTTATTAGACCTTCACTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTCTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
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Task1_train_14363
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This mutation is located in gene ABCC2 (ATP binding cassette subfamily C member 2) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; ABCC2-related disorder
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GTGGTTTGAGTGGTTGAGTTGGTTTCTGTGCCTATGATGATTTTCAGTCTTCTGGTTTTTCTGTAGATCACACAAACCCTGAACTGGCTGGTGAGGATGACATCAGAAATAGAGACCAACATTGTGGCTGTTGAGCGAATAACTGAGTACACAAAAGTGGAAAATGAGGTAAGGAGGAACTGGAAAAATCCAGGAACAAGGCAAAAACAACATGCAACTCCTTCGAGAGTGCATCTTTAGAATTTCTCCATATTTTACATGGGCCCATAATGGGTCCCTAAAGTTTCCTTTCCTCTAACTCAAAGGACCTAATTTCTTCAAACTTAGAATAGGAAATGGTTTAGGGGATGTCGGGTCTTGCAACATACCGAGGAGATCTACAGCACAAGCTCATGGTGTATTTTTCTTTAACTGAATAAGGTAGGAACTTTCCAAAAGTGCAAGTCTAGTTCAGCCTATTAAATGCAGAGGCCATTAGGTAGCTGGGACACTGCTACCCTTCTCCTGTTCTATGACACGAGTCCTGGGTGGACTGTTCGGCTGAGTTGCCACCTTATAAAACTTACTTCTCATCTTGTCTCCTTGCCAGGCACCCTGGGTGACTGATAAGAGGCCTCCGCCAGATTGGCCCAGCAAAGGCAAGATCCAGTTTAACAACTACCAAGTGCGGTACCGACCTGAGCTGGATCTGGTCCTCAGAGGGATCACTTGTGACATCGGTAGCATGGAGAAGGTAGGTGGAGTGAAGGAAGGCCTGGATGGGAGGCCTTGTGATCAAACAACAATTGGACAGAGTGGAGAGCAGCTGGGCCCTAAGCCTTCATCATTTGGATGGAGGGAAAGGGTCAGGGCACTTCCTCTGCCCTGGGGAGGTGTGGGGACACAGTATCAGAGGGAAGGATAGCAGCCAGGGATCACACAGACTTACCGCAGCTGTCGGGGCCTTCTGCTCAGCTCCTCCCTGCCTCCTAGCCAGCTGACCAGGGCCCCTTTCCTATAAGGTCCACAGTATGCAGAGAGGAAGTCAGGAAGGAAACAAGGGGGCGGCCAGGCCTGGTGAAGGAACTGTTGAGAATAGCAGTGTGGAGGTTGTCCCTGAAGGAAGAATGGCCCAGTTCTCCTCCCAGTCTTCAAAGTCAGGCACCCTCCTTAGGTGCTGTTGTTCTCCGAGGACTTGGGGTCTGATGAGCAAGGACGCTGAGGTCCAGATCAGAGTCTGGCTCTCAGCTGGTGGCAGACCTAATCTTTCCCTTCTTCACTTCTAAACAAGCATTTTTCTTTTTTCTTTATTTTTATTTATTTATTTATTTATTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTTCTGACTCAGACTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGTCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATATTGACCAGGCTGGTCTTGAACTCCTGAACTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTAAACAAGGATTTTGTTTTTATCTATAATTTCCAATAATAATTATAACAACAGCTGCCAAGAGAGTCCATTTCAAACAGTGACTATAGTTCTCAGCAAACAATGATTTTTGGCATCTTTTTCTGACATCTGGGTACTTTTTTCCTCACCAAAACCAAAATCAGTTTAATATCTTAGAGATGGAGTAGCCAGTCACTGCCTCTTACCTCCTGTGACTGTGAATGCCCAGGCTAAATAACTTTTCCCCAAGAATTATTTGTGGAACTAATGTGTAAGGGAACTATATTCGCAGATTGGTGTGGTGGGCAGGACAGGAGCTGGAAAGTCATCCCTCACAAACTGCCTCTTCAGAATCTTAGAGGCTGCCGGTGGTCAGATTATCATTGATGGAGTAGATATTGCTTCCATTGGGCTCCACGACCTCCGAGAGAAGCTGACCATCATCCCCCAGGTGAGCTCTAGAACTTACTCGGGCACATGCCGTGGGGAGCAGCTTGTTTTACAGGAAACATATGCAGCTTCTTCTTGATGTCTGTTCAGTCAGCACTGTCAATTCCACGGTCTACTCGGGATACTTGAGCTAGTTCCCTAGGATGGACACGTCATTTCCAGAACTTTGAAATGTTTGGTAATATGCATTTGTGGCTGCCTGTATCTGACCACTAGGTGGCAGCAACACAACAGAAGTCAAGTACAGCAGACGATTCTTTAGCGTTGCTATAGCCCATCACGGTTTGCAAGACTTTTGCAATCAGCATTAGCAGTTTTGCCGCTGAAGCTTGAAGCCATTAAGCTTTATACTCCCCATTTGCTATGGTTAAAAGATAGAGGAGGGAATTTGCTGCAGGTTTCTGCCAGCAAGCGGAACGCTTCGTGCATCAGCAAGAAAGATTTCCCTTCGGCTTCCTCTCTGGATCCTGCCAGATAAGGACTGCCGCGAGGCCTCTCCGTTCCCCGCAGCGGCTCCTCAGGAGAACCTTTCCTCCTCCGCCCACTGCAGCCCAGTTCCTCTGGGGGTAGTTTTGGTCTGTCTGGTGTTTGCTCAGTTCGATAGTCTTTTCTCCAGCCTCTTCAAAAGCGTGACACCTTCTTCTCATGCAGCTGTACTATTCTTTCCTCTACCCTCCTCTGATCCCTCTACCTTGAAATCACGATTATGGGTTTGGGAGGCCGAGGCAGGTGAATCACTGGAGCCCAGGAGTTCAAGATCAGCCTAGGCAACATGGCAAGAACCCATCTCTACAAAAAATTTAAAAAATCAGCCAGGCATCGTGGTGCGTGCCTCTGGTCCCAGCTACTCGGGAGGCTGAGGTGGAAGCATCACTTGAGCTAAGGATGTCAAGGCTGCAGTGAGCGGTGTTTGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAAAGCCTCAAAAACAAAAAATAAACCGAGGACTTCTAACCCTGTGCCTAGCCCCTGGCTGGTAGCCACTCCGAGCCTTAGGAGGGAAAACCTTGCGGAAGCTCAACCACAAACCAGCTTCCTGCCTCAGGAATCCATCTCAGGCCAGTCCTATCCACCATCTCCCAGTCCTGAGGAACTCCGAGGTCCTTTTCTGGCATGAGCCCCAACAGCCCCCTTGTCCTTTCACTTGCAGGACCCCATCCTGTTCTCTGGAAGCCTGAGGATGAATCTCGACCCTTTCAACAACTACTCAGATGAGGAGATTTGGAAGGCCTTGGAGCTGGCTCACCTCAAGTCTTTTGTGGCCAGCCTGCAACTTGGGTTATCCCACGAAGTGACAGAGGCTGGTGGCAACCTGAGGTAATGTTCCATAGCCTGCTACCCCTGCAGGCAATGAGAGGATGTGAGGGGGCCACTCCTCGTGTTCCTCGTGTTAGGTGATGCCTGGCATAGAATTTTCATCCAGGTCTGATTCCTAAAGTGTAAAATGAACCTGTTGTAAAGTTCACAAGATAAAATAGATGTGAAAGTGCTTTAAAACTCTTGAAAACTGGTCGAGCACAGTGGCTCACGCCTGTGATCCCAGCACTCTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTAGCCTAGCATGGTTGTGGGCACCTGTAGTCCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTAAAAAAAAAAAATCAACTCTTGAAAACCTTTGTTATTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCACTAAAAATACAAAAAATTAACTGGGTGTGGTGGCAGGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAG
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GTGGTTTGAGTGGTTGAGTTGGTTTCTGTGCCTATGATGATTTTCAGTCTTCTGGTTTTTCTGTAGATCACACAAACCCTGAACTGGCTGGTGAGGATGACATCAGAAATAGAGACCAACATTGTGGCTGTTGAGCGAATAACTGAGTACACAAAAGTGGAAAATGAGGTAAGGAGGAACTGGAAAAATCCAGGAACAAGGCAAAAACAACATGCAACTCCTTCGAGAGTGCATCTTTAGAATTTCTCCATATTTTACATGGGCCCATAATGGGTCCCTAAAGTTTCCTTTCCTCTAACTCAAAGGACCTAATTTCTTCAAACTTAGAATAGGAAATGGTTTAGGGGATGTCGGGTCTTGCAACATACCGAGGAGATCTACAGCACAAGCTCATGGTGTATTTTTCTTTAACTGAATAAGGTAGGAACTTTCCAAAAGTGCAAGTCTAGTTCAGCCTATTAAATGCAGAGGCCATTAGGTAGCTGGGACACTGCTACCCTTCTCCTGTTCTATGACACGAGTCCTGGGTGGACTGTTCGGCTGAGTTGCCACCTTATAAAACTTACTTCTCATCTTGTCTCCTTGCCAGGCACCCTGGGTGACTGATAAGAGGCCTCCGCCAGATTGGCCCAGCAAAGGCAAGATCCAGTTTAACAACTACCAAGTGCGGTACCGACCTGAGCTGGATCTGGTCCTCAGAGGGATCACTTGTGACATCGGTAGCATGGAGAAGGTAGGTGGAGTGAAGGAAGGCCTGGATGGGAGGCCTTGTGATCAAACAACAATTGGACAGAGTGGAGAGCAGCTGGGCCCTAAGCCTTCATCATTTGGATGGAGGGAAAGGGTCAGGGCACTTCCTCTGCCCTGGGGAGGTGTGGGGACACAGTATCAGAGGGAAGGATAGCAGCCAGGGATCACACAGACTTACCGCAGCTGTCGGGGCCTTCTGCTCAGCTCCTCCCTGCCTCCTAGCCAGCTGACCAGGGCCCCTTTCCTATAAGGTCCACAGTATGCAGAGAGGAAGTCAGGAAGGAAACAAGGGGGCGGCCAGGCCTGGTGAAGGAACTGTTGAGAATAGCAGTGTGGAGGTTGTCCCTGAAGGAAGAATGGCCCAGTTCTCCTCCCAGTCTTCAAAGTCAGGCACCCTCCTTAGGTGCTGTTGTTCTCCGAGGACTTGGGGTCTGATGAGCAAGGACGCTGAGGTCCAGATCAGAGTCTGGCTCTCAGCTGGTGGCAGACCTAATCTTTCCCTTCTTCACTTCTAAACAAGCATTTTTCTTTTTTCTTTATTTTTATTTATTTATTTATTTATTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTTCTGACTCAGACTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGTCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATATTGACCAGGCTGGTCTTGAACTCCTGAACTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTAAACAAGGATTTTGTTTTTATCTATAATTTCCAATAATAATTATAACAACAGCTGCCAAGAGAGTCCATTTCAAACAGTGACTATAGTTCTCAGCAAACAATGATTTTTGGCATCTTTTTCTGACATCTGGGTACTTTTTTCCTCACCAAAACCAAAATCAGTTTAATATCTTAGAGATGGAGTAGCCAGTCACTGCCTCTTACCTCCTGTGACTGTGAATGCCCAGGCTAAATAACTTTTCCCCAAGAATTATTTGTGGAACTAATGTGTAAGGGAACTATATTCGCAGATTGGTGTGGTGGGCAGGACAGGAGCTGGAAAGTCATCCCTCACAAACTGCCTCTTCAGAATCTTAGAGGCTGCCGGTGGTCAGATTATCATTGATGGAGTAGATATTGCTTCCATTGGGCTCCACGACCTCCGAGAGAAGCTGACCATCATCCCCCGGGTGAGCTCTAGAACTTACTCGGGCACATGCCGTGGGGAGCAGCTTGTTTTACAGGAAACATATGCAGCTTCTTCTTGATGTCTGTTCAGTCAGCACTGTCAATTCCACGGTCTACTCGGGATACTTGAGCTAGTTCCCTAGGATGGACACGTCATTTCCAGAACTTTGAAATGTTTGGTAATATGCATTTGTGGCTGCCTGTATCTGACCACTAGGTGGCAGCAACACAACAGAAGTCAAGTACAGCAGACGATTCTTTAGCGTTGCTATAGCCCATCACGGTTTGCAAGACTTTTGCAATCAGCATTAGCAGTTTTGCCGCTGAAGCTTGAAGCCATTAAGCTTTATACTCCCCATTTGCTATGGTTAAAAGATAGAGGAGGGAATTTGCTGCAGGTTTCTGCCAGCAAGCGGAACGCTTCGTGCATCAGCAAGAAAGATTTCCCTTCGGCTTCCTCTCTGGATCCTGCCAGATAAGGACTGCCGCGAGGCCTCTCCGTTCCCCGCAGCGGCTCCTCAGGAGAACCTTTCCTCCTCCGCCCACTGCAGCCCAGTTCCTCTGGGGGTAGTTTTGGTCTGTCTGGTGTTTGCTCAGTTCGATAGTCTTTTCTCCAGCCTCTTCAAAAGCGTGACACCTTCTTCTCATGCAGCTGTACTATTCTTTCCTCTACCCTCCTCTGATCCCTCTACCTTGAAATCACGATTATGGGTTTGGGAGGCCGAGGCAGGTGAATCACTGGAGCCCAGGAGTTCAAGATCAGCCTAGGCAACATGGCAAGAACCCATCTCTACAAAAAATTTAAAAAATCAGCCAGGCATCGTGGTGCGTGCCTCTGGTCCCAGCTACTCGGGAGGCTGAGGTGGAAGCATCACTTGAGCTAAGGATGTCAAGGCTGCAGTGAGCGGTGTTTGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAAAGCCTCAAAAACAAAAAATAAACCGAGGACTTCTAACCCTGTGCCTAGCCCCTGGCTGGTAGCCACTCCGAGCCTTAGGAGGGAAAACCTTGCGGAAGCTCAACCACAAACCAGCTTCCTGCCTCAGGAATCCATCTCAGGCCAGTCCTATCCACCATCTCCCAGTCCTGAGGAACTCCGAGGTCCTTTTCTGGCATGAGCCCCAACAGCCCCCTTGTCCTTTCACTTGCAGGACCCCATCCTGTTCTCTGGAAGCCTGAGGATGAATCTCGACCCTTTCAACAACTACTCAGATGAGGAGATTTGGAAGGCCTTGGAGCTGGCTCACCTCAAGTCTTTTGTGGCCAGCCTGCAACTTGGGTTATCCCACGAAGTGACAGAGGCTGGTGGCAACCTGAGGTAATGTTCCATAGCCTGCTACCCCTGCAGGCAATGAGAGGATGTGAGGGGGCCACTCCTCGTGTTCCTCGTGTTAGGTGATGCCTGGCATAGAATTTTCATCCAGGTCTGATTCCTAAAGTGTAAAATGAACCTGTTGTAAAGTTCACAAGATAAAATAGATGTGAAAGTGCTTTAAAACTCTTGAAAACTGGTCGAGCACAGTGGCTCACGCCTGTGATCCCAGCACTCTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTAGCCTAGCATGGTTGTGGGCACCTGTAGTCCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTAAAAAAAAAAAATCAACTCTTGAAAACCTTTGTTATTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCACTAAAAATACAAAAAATTAACTGGGTGTGGTGGCAGGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAG
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Task1_train_14364
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This variant affects the gene ERLIN1 (ER lipid raft associated 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Juvenile amyotrophic lateral sclerosis
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CAATGACACAGGTACCTTCAAATTCAGCCAGGGTAAAAGTCAGGGTGATATATTACACATGAGGAAAAGTGCCAACAAAATAGTGAAACCAAAAACCACAACTAACAAATCTTGATGTGTTGCTTGTGCTCAATTTTCCAAATACCCTTGCATTTGTAATACTAATGCCAAACACCTGCTGGTTAGCCCATCAAACAGGGGCTAACTTTAAAGTCCACACTAAAGTATCCATTATTTTGGAGGTAATAAGGAACTATCAAAGGTTTCAAGCAAGGGCATGACAGTCAGATTTACGCTTTGGCCAGCAGTGTGAAGATGAACTGAGAAGCATAAAGATCAGAGGCAGGGAAAGCATAAGGCAATTACTGCAAAAGTTTAGCTAAGAGGTAAAGAGAGACTAGGCAAACTGAGGAACAGTAGAAATAAAAGAAGAAAGCAGTTGCAAAAGACCGTTTTTAAAAAGGCAATTTTTTAAAGTTGTTAAAACATTAACTGAGCTGGGCTTTATATCAGGTAATTTACATAAATTAGCACTGAATTCTCCTAAATTTGCATATTAGGAAACTAAGAAACAGAGAATTTTAGAAATGCCCAAAAGGTACATACTAGACCACGTCAGAACCTGTTCTTTATCTACAAAAACATGCTGCTTTCTACTTCTGTCTTCAGATCCAAGAATTTGCTCCACTGGCCTTCCCATGTGGGATATTAGATGCAACTGGATTTCAAATCCGACTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGAGGCATACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCATGAACCCAAAAGGCAGAGGTTGCACTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCCATCTCAAAAAAGAAAAAAAATTAATGGACAGGCCATTAATAAATACTTAATGACTAAATCATTTGCTTGATCATTTCCCAAATGAATTATATCTAAATAGTTTCCTATTTAATCTCTGGTTAAAGAATCATCAGTCCCTTCCCTTTTTCAATCATAATCCATTCCAGTGATTTGTAATCAAGGAAAGGAGAGGAAAAAAAGACAAGGAAAATGCTTACTCTCTGAAAAATATAATCCAAATGCCCTTGACAGTAATACGCCTGCTCTCTACTCTGAAATCTTTTCACTATTTGTGCCTGTACCGGTTATGTGAAATTTATTATGACCTTACATCCCAATATATCCTTTTTTAGCTCTGTATTATGTCTTCTCAAGTAAAATTAAAACCCCTGAAGGCAAAGGCTGTAATTTCATCTTTTCAAATTATTCTTGCCAAACACAATATTCTGTACATACTAGACATGCCAGTTTTATTAACAAGCATGCATATAAGACGGTATATCTTTCTTCAGGGCTTCTAATTAAGTTTTTGATTACAACAGTACCTACCCACCCCATACCTGTAGGTTTTCATCTTTTATCAAGAAAATGCTTTCCCCACGTTGAAGGCTTTCAGACTGCTTTGCAAATTATAGCAAATCTCAACTAGAAAATACTTCTCTTTGATGGCAAATCAGTGTGGGCCAAGGAATTGATCAGTTACAGATTTCTAACACCCAAGGAAATTATCTCTCATCCTGACTGGATAAAATACTACTTTCCTATTCTAGAAATAACCAATGACCATTTTGCTCTTAGAAACACTAAGCTCAGAGAAGAGTAACTCATACAGTTGCAGAAAGTCAACTCTGTCCAGAACTTCTGACCTATTTTTGCCTCTATTCCCCAGAAATTTATTAATCAGTGATCAATGAAGTCATAAAACTTTCAAAGTACCCTTCTATTCCTCAAAGAATCTCTCAGCTATAAATCCTCTGGCTATAACTATAAAAACCACAGGTAGATGGGTAACATACCTGCATAAGGAGCCAACATATTAACCACTTCTATTCGGTCAATATAGATCATGACCCCACCACTAAAAACAAAGAAAAAAAGTGTGAACTACTAAAGGCAATCCATAAAACACAGTTATAGATAGACCTGGGGAGAAGCTGATAATGAAACATACTAATATTCACTTAAAACACAGAAAGAGTTCGCTTCCTTTTTCATAGCATTTCTGTCCCTCTATAGATGTCAATGTCTTTTTTACACTTGTAATAGTCATTTAAAATAAGTAATTTAAAAAATACCTTGAACTTCACATTCTTCTTTTGATACAATTCAATGCAGTGATTATACCCTAGAAATAATTTGGGCCCTGCTTGCCTTTCTTTCCCTAAACCTCTTTAGGACAGCAATTCTCAAAGTGAGGTCTTCAGACCAGCAGTATCAGCATCACCCAGGAACTTTTGTTAGAAATGCAAATTCTCGGGCCTCACCCCAGACCTATTGAATCAGAAACTCTAAATTAGATGGCATTTAACACTACAGATGAGAAGACGGTGGGATGATTAATTTTAAACTATGTTTTATTAAGCACCTATTCTGGGCCAAGTTCTGGTTAGGCACTTCATATACAGTAATTCTAATCCTTACAACAACTCTGCAAGGTAGATTTTACTGCCTTTATAAAGGAGGAAACTAAGCTTTAAAGTGTCAATAAAGGAATGTGTTGGGGAAAGAGGTATATAAAAACTGTCTGTACTTTTTGGTCAATTTCACTATGAACCTAAAACTGCTGTAAAAAATAAAGTCTTTAAAAAATAGTCAATAAAGCAGATGCAGCAGTGCTAATACACAGTTAGGTCTACTTGCTCTAAAACTCCAGTTTTTTCCAATAATACCATAAGAACAATAATGGTTCTTAAGATGGAAAAGCTCCTATTTGGAGATAGGCCTTTGCTCAAACAATGCTCAGATCAGAAGTCCCCTTGGGTTAACTATCATGCCTATTTGAGATATGTCTAAGTGATCATAGCTGTAGGAACAGAAACTCTGTCTGAGCTAAAGGGAGGCTCGTAGGCAAAGAGAAAGCTTACCTTGTTCCACAAGGCACATTTTTAACTTCATCAGTTTGTAGTGTTGTCTAGGGAGGAAAAGATATCTCATCAACACTCAAGACACACATTGTCAAAAAACTACTGGTACCAGAGGCAAATCTCTGGAAAGCTGCTGACAGTAAGTACAGCAGAGATCCATCACAATTTCAGTTCCCAAAGATTAGCTCTCAGAACAGTCATTTCTTTTTGTATTCTAGTAGAAATGAAAGACTTGAGACAGAAAATATTTTACAGCAATTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAATGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGGTTCTTGTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACTACGCTCAGCTAATTTTTGTATTTTTAGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTACAGCGAATGTTTGAATTAAGATTCACTGGGAAAGGTTCAATGTTCAGTCTGCTAATAAGTAGAAAACTCTTCCAGAGTCCCTTACCTGCCTGGAGCTGGCCAGGGGTTGTAAACAACACAGCTTGCTCACATAGATACTCTGGCTACAACTTGCACTCTGAACTTTGATTCCACTGCTAATATTACTATTTATGTTGAAGATAAAAGAGATTTTATGCATACAAGTACTCTAAGACTCAAAGCTGCCCTTGAATCCAACAGCAACCTTTCTTCTCTAAAGCTGTGGTCAACATTTTAGTTTAATACCTAGTGATCTCTCACATGTCCTATTCAGTTTCCTTTTTAATAGAAGTGCTACCACCAGTACTGCTTCCTCCTGGTGAACCAACAATCTGGTACTTAATTGCTTTGCCCTTGTCACACCTTTGTTCAGATCCAGAATGAA
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CAATGACACAGGTACCTTCAAATTCAGCCAGGGTAAAAGTCAGGGTGATATATTACACATGAGGAAAAGTGCCAACAAAATAGTGAAACCAAAAACCACAACTAACAAATCTTGATGTGTTGCTTGTGCTCAATTTTCCAAATACCCTTGCATTTGTAATACTAATGCCAAACACCTGCTGGTTAGCCCATCAAACAGGGGCTAACTTTAAAGTCCACACTAAAGTATCCATTATTTTGGAGGTAATAAGGAACTATCAAAGGTTTCAAGCAAGGGCATGACAGTCAGATTTACGCTTTGGCCAGCAGTGTGAAGATGAACTGAGAAGCATAAAGATCAGAGGCAGGGAAAGCATAAGGCAATTACTGCAAAAGTTTAGCTAAGAGGTAAAGAGAGACTAGGCAAACTGAGGAACAGTAGAAATAAAAGAAGAAAGCAGTTGCAAAAGACCGTTTTTAAAAAGGCAATTTTTTAAAGTTGTTAAAACATTAACTGAGCTGGGCTTTATATCAGGTAATTTACATAAATTAGCACTGAATTCTCCTAAATTTGCATATTAGGAAACTAAGAAACAGAGAATTTTAGAAATGCCCAAAAGGTACATACTAGACCACGTCAGAACCTGTTCTTTATCTACAAAAACATGCTGCTTTCTACTTCTGTCTTCAGATCCAAGAATTTGCTCCACTGGCCTTCCCATGTGGGATATTAGATGCAACTGGATTTCAAATCCGACTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGAGGCATACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCATGAACCCAAAAGGCAGAGGTTGCACTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCCATCTCAAAAAAGAAAAAAAATTAATGGACAGGCCATTAATAAATACTTAATGACTAAATCATTTGCTTGATCATTTCCCAAATGAATTATATCTAAATAGTTTCCTATTTAATCTCTGGTTAAAGAATCATCAGTCCCTTCCCTTTTTCAATCATAATCCATTCCAGTGATTTGTAATCAAGGAAAGGAGAGGAAAAAAAGACAAGGAAAATGCTTACTCTCTGAAAAATATAATCCAAATGCCCTTGACAGTAATACGCCTGCTCTCTACTCTGAAATCTTTTCACTATTTGTGCCTGTACCGGTTATGTGAAATTTATTATGACCTTACATCCCAATATATCCTTTTTTAGCTCTGTATTATGTCTTCTCAAGTAAAATTAAAACCCCTGAAGGCAAAGGCTGTAATTTCATCTTTTCAAATTATTCTTGCCAAACACAATATTCTGTACATACTAGACATGCCAGTTTTATTAACAAGCATGCATATAAGACGGTATATCTTTCTTCAGGGCTTCTAATTAAGTTTTTGATTACAACAGTACCTACCCACCCCATACCTGTAGGTTTTCATCTTTTATCAAGAAAATGCTTTCCCCACGTTGAAGGCTTTCAGACTGCTTTGCAAATTATAGCAAATCTCAACTAGAAAATACTTCTCTTTGATGGCAAATCAGTGTGGGCCAAGGAATTGATCAGTTACAGATTTCTAACACCCAAGGAAATTATCTCTCATCCTGACTGGATAAAATACTACTTTCCTATTCTAGAAATAACCAATGACCATTTTGCTCTTAGAAACACTAAGCTCAGAGAAGAGTAACTCATACAGTTGCAGAAAGTCAACTCTGTCCAGAACTTCTGACCTATTTTTGCCTCTATTCCCCAGAAATTTATTAATCAGTGATCAATGAAGTCATAAAACTTTCAAAGTACCCTTCTATTCCTCAAAGAATCTCTCAGCTATAAATCCTCTGGCTATAACTATAAAAACCACAGGTAGATGGGTAACATACCTGCATAAGGAGCCAACATATTAGCCACTTCTATTCGGTCAATATAGATCATGACCCCACCACTAAAAACAAAGAAAAAAAGTGTGAACTACTAAAGGCAATCCATAAAACACAGTTATAGATAGACCTGGGGAGAAGCTGATAATGAAACATACTAATATTCACTTAAAACACAGAAAGAGTTCGCTTCCTTTTTCATAGCATTTCTGTCCCTCTATAGATGTCAATGTCTTTTTTACACTTGTAATAGTCATTTAAAATAAGTAATTTAAAAAATACCTTGAACTTCACATTCTTCTTTTGATACAATTCAATGCAGTGATTATACCCTAGAAATAATTTGGGCCCTGCTTGCCTTTCTTTCCCTAAACCTCTTTAGGACAGCAATTCTCAAAGTGAGGTCTTCAGACCAGCAGTATCAGCATCACCCAGGAACTTTTGTTAGAAATGCAAATTCTCGGGCCTCACCCCAGACCTATTGAATCAGAAACTCTAAATTAGATGGCATTTAACACTACAGATGAGAAGACGGTGGGATGATTAATTTTAAACTATGTTTTATTAAGCACCTATTCTGGGCCAAGTTCTGGTTAGGCACTTCATATACAGTAATTCTAATCCTTACAACAACTCTGCAAGGTAGATTTTACTGCCTTTATAAAGGAGGAAACTAAGCTTTAAAGTGTCAATAAAGGAATGTGTTGGGGAAAGAGGTATATAAAAACTGTCTGTACTTTTTGGTCAATTTCACTATGAACCTAAAACTGCTGTAAAAAATAAAGTCTTTAAAAAATAGTCAATAAAGCAGATGCAGCAGTGCTAATACACAGTTAGGTCTACTTGCTCTAAAACTCCAGTTTTTTCCAATAATACCATAAGAACAATAATGGTTCTTAAGATGGAAAAGCTCCTATTTGGAGATAGGCCTTTGCTCAAACAATGCTCAGATCAGAAGTCCCCTTGGGTTAACTATCATGCCTATTTGAGATATGTCTAAGTGATCATAGCTGTAGGAACAGAAACTCTGTCTGAGCTAAAGGGAGGCTCGTAGGCAAAGAGAAAGCTTACCTTGTTCCACAAGGCACATTTTTAACTTCATCAGTTTGTAGTGTTGTCTAGGGAGGAAAAGATATCTCATCAACACTCAAGACACACATTGTCAAAAAACTACTGGTACCAGAGGCAAATCTCTGGAAAGCTGCTGACAGTAAGTACAGCAGAGATCCATCACAATTTCAGTTCCCAAAGATTAGCTCTCAGAACAGTCATTTCTTTTTGTATTCTAGTAGAAATGAAAGACTTGAGACAGAAAATATTTTACAGCAATTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAATGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGGTTCTTGTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACTACGCTCAGCTAATTTTTGTATTTTTAGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTACAGCGAATGTTTGAATTAAGATTCACTGGGAAAGGTTCAATGTTCAGTCTGCTAATAAGTAGAAAACTCTTCCAGAGTCCCTTACCTGCCTGGAGCTGGCCAGGGGTTGTAAACAACACAGCTTGCTCACATAGATACTCTGGCTACAACTTGCACTCTGAACTTTGATTCCACTGCTAATATTACTATTTATGTTGAAGATAAAAGAGATTTTATGCATACAAGTACTCTAAGACTCAAAGCTGCCCTTGAATCCAACAGCAACCTTTCTTCTCTAAAGCTGTGGTCAACATTTTAGTTTAATACCTAGTGATCTCTCACATGTCCTATTCAGTTTCCTTTTTAATAGAAGTGCTACCACCAGTACTGCTTCCTCCTGGTGAACCAACAATCTGGTACTTAATTGCTTTGCCCTTGTCACACCTTTGTTCAGATCCAGAATGAA
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Task1_train_14365
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This sequence change occurs on Chromosome 10, altering ERLIN1 (ER lipid raft associated 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hereditary spastic paraplegia 62
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TCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCACGCCCGGCCAAGAACACTTTTTAAATATGGTTTTATTAATATAATTATTTCCTAGAATGTTACCGTTTTACACATAAAGAACATTCCTATTTAGTCACACTGGCTGGCTCTAGCCCATGTAAAACTTTTTTGTAGATGCGAAGTATTTTAGTTTACACTGAAGTCTCTGTACTAATTTCATTTACATCTCTTATGATAGTTTATTATTAAATATATACACACACTATATTTGTTATATATATACACAATTAAACTCCAAAATCTGTTTACTATTATCTATATCTCCTTTATTTATATTTTTGCATCAGTATGACTTAACATACTAAGCATGAAGGCAGAGACAGATCTACCTGGTTTTGAACAAGATCTATTTGTTAGAGCCTTGATTTTTTTTTTTTTTTTTTTTTAAGAGACGGAGTTTCCCCATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACTGCGCCGGGCCTTAGAGTCTTGATTTTTAAGGGTCTAATGCTGCCATTGCTAACATTATTATAGATTGTTTCGGCTGTTGATGAGGTTATGTAATTAAAATTCCTCCTTTCACAGAAGACTAACTGAAGTCTATGACAGTTAAGCAATTTTTCCAAAGTCATGCCACCAACTGGCGGTAACGCTGGGTCCCCATGTTCATTACACCACATTGCTTCCTGAGAAATCAGCTCAATTTAACAACTTCCACCATAAATAGAAAGCCAGAAATATAAATGTGTTACAACTCCTGCCTTTAAGAAAACTGGAGCCTTTCTGGAAAGAAAACACATAAAAAAACTTAGCAAACAATGCAAGACAACAATATTAAAGAAAATAAGACAAAGGGCCAAAATTTACAATATAGACTTTAAGAGCTATAGATCAGAAGAGGAAGAATCTGGGATGAGCCTTTAAAAGCCTGGCAAGATTTAGACAGGAGAAAAGGAATGGAGAGTGAGATGGCAGATAAAGAAGTGATGGCATGAACTAAGGAAAGAATGGGTAAAATAAATATGGAACAACATATGGAAATCAGTCTGATTAGGGGAAGAATACATTTCACTTCAGTAGACACAATTCTTTCCCTAAGCCATCTAAAAGGGGACAGGAAGAAAACCTAGGGGATTTAAGAATTTATAATTAAACTCTCACTTAGCAGGAAGCCTAGACATAAGATTACAAGATTAAATAACACAGAATTTTCCTGAGTCCTGAAAAATTAGCAGCAGATGGCAGACAAACTTCTGAATCCAAAGATTTATGATCACACTGGGCTTGCGAAAGTGGTCACAGCCTAATCCTGGTTTTGTCATCTTGTTACATTGAAAGATACTTATTTTATTGTCTCCCATGGCCAAGACACTTTTCGAGGATTAGACACTTATTTCAAATATCCCGGGATGCCATCAAAATATAACATTCACTAAGGTTCCACATAAAATTGTGCTTAATATACCAGGCAAAAAAACATGAGGCAGAAAGGCTGTGTATAAAAATTTTGATCCTCCATGTTAACAGTAGCCCAGGAGCCTGCCTCTATGGAAACTAAACACTGTTCTAAACCACATAATCACTGGTTTGTATGTCTAGTTGTGTTTCTAATTCTTACTTTTATTGTGACAGCAGCAACAGAAAATTTGCTATATACCACGATATAGATGGTAGAAGTCAGTCCTTCCAAGCTTCCTGGTTCATACCTTTAATTCATTTCAAGTAAGTGAGGTGGTTTAACATCATAACTTGTGTTGTAACAACTGTACTCTGAACGTTAACTTCTGCATTTAAGTAAATACCACCATCTGCTTAAGCAATAAGGAAATCTATCTCCACCCACAAGTGTGGTAACTCCTGTCATGCCTGTCTATCTGGTATGGAGGCTTCCCCTAGGAATCACTCACCTGCACAGATCTGAACGTAGTAATGAAAGGCAACATGATATGATAGCCTGGTCCACTGGGGCTAGTTAGTAAAGCTCCTCCCCTGCAAAAAGATGTTTCAATTTGACAAAATTATAAAAAGAAAAATTATCTTTCCAAATCTAAAATGCTATAATAAATACTCACTCTTGCTCATGCTGCTGACCTACTAAAGCCTCACTAATATGAATTGCTCATAATGAACAACTGCTTAAAATACCTCCACACCTAAAAAGGGAAAAAGATCAAATTAAACTGCCAATGTTACACCTTGTTTCATAAGCTCAACCAACCGTACCTCTGGGTCTCCAGCACTGCTCTAAGGTTCAAAGGATTCTCCTCGGTCTTTAACCTTCTGAGAAATATTTGTTTAAAAAATTCTAATGGCTTTCAGTAGAGGTACATTAATAGTACATAACAAGAGCCAAATCAAAATATATAATACATTTAATCACCAGGTTGAAAAAAAGACAATGCAAACTTTGAAGTAAAGAGAAAATTTCTGAGGCTTATAATTCTTTCGATCTATCTACAAGGTAATTAAAATACTGGGAACATAAAATTTCTATATAAAAACAAAAAATTAGCATGAAAAGATGAAGGGTGACAAGACTATACAAATAAATAGCATAAGGGCTTGTTAACCAAATCCTGGAATGTGAAAACTATGAAAGCAAGCCCTGGAAATTATAAAAAGGAGGCATTTGGGGAGCAAAGAAAACAAAGTCCTATTTTGCACCTTGTAAATTCATAGAACTTAGCTACCGGTCTTGAAAATATAAACACATTTGCAAGGTCATAATAACAAGGAAAGATGAACTGTTTGAGGTTCATTACTAATTCTTTGAGTCATTCCTTGAAATGTCCTTTCTCTGGTTTTACTGTCAGAAAGACAATGCTTTTAAACTGGAAGGAAATCTGGACTAATCTGTAATTTCTTATGTAGAGCTCCATCTGCTAAGATATACCATTAAAATTGCTCTTTTTCTAGGATTCAGGATGGATTTGAAAGTAGAAATATCAGTTTTGAGGGATAGTGGAAACAAGCAAAAAGTTGACGCTCTTTTTGAATACACCATTATCCCAATTTCTCCACAAACTGGCCTCTCTTACTAGTCTGTATCAAAAGGAACTTGTGGTAATTAGGCTGAAGGAAAAGCTAAGCGAGCTCAACAAGAGAGCAACAGCTCCCACACCACTCCTGTCCCCAACTTGAACAGCAACAGTAAGGAGGGAGGAGCATGGCCCATCAGTGTTGTGCTTATGTCCCTGGAGGTCCAGGGACATAAGCACCATCACAGTCATCATGGTGTTACAAGACGTAACCAGACACTGGAAGCTTTTAAATGAAAAAGTCTAAGAAACAACCATAAACATACAGCATCTACAGCGGCAAACTAAAGCCTGTACAGTTGAACGAACTATAATTTATCCATCTCTTCAGTTAGAGGTAGAGTGACTACTTCCTTTCTTCCTTCTTCATTTTTCTACAAATAATTGAGTTTGCTGTGTATAGGAATAACCGTAGGGAGACTTAATCTCTGCAACAAAACGAACATAGCACTAAAACTGTCCAACATCTGGAGGGTGCTCCGCAAAAGCCCGCTTCGACCCCCGTGCTCTCCCTAGAGATGGGACATGCGCCCCCGAACGTTGCAGAGGGAACAACTTCCCAGACTCCACTCTGGAGTACCCTTTTAATCTGCTCTAGAGCCCTAACTGACTGCACATGCCGCTCACCTGTAGTACACAGCCAGATGGCCCTCCTCAATCTTGTGGATGGAGGCGTAGAGCAGGACAGCCACCAACCCCACCACTGCAGCCACCAGAACCCGGGCTTGAGTCATATTCATTCTCGTTCCTCCTGGGAGCGGGAGAAAAGGACCCTCAGTCCCGTGAGTGACAGGTCCACCCCCTCCAGTTTCTACCCTCTCCCTCCGGAAACTTGGCGCTCTCTCGCAGGCTGAGCCGGGGAGTCCAGTACCCCTGTCCCCTCATTCTTCCCTTCTGGCTGAGCCCGCTGACCCCTTGCCAACTCCTCCGCCCCCGGAGGCCAGTGGGCCGCCCCTGCTCGGT
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TCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCACGCCCGGCCAAGAACACTTTTTAAATATGGTTTTATTAATATAATTATTTCCTAGAATGTTACCGTTTTACACATAAAGAACATTCCTATTTAGTCACACTGGCTGGCTCTAGCCCATGTAAAACTTTTTTGTAGATGCGAAGTATTTTAGTTTACACTGAAGTCTCTGTACTAATTTCATTTACATCTCTTATGATAGTTTATTATTAAATATATACACACACTATATTTGTTATATATATACACAATTAAACTCCAAAATCTGTTTACTATTATCTATATCTCCTTTATTTATATTTTTGCATCAGTATGACTTAACATACTAAGCATGAAGGCAGAGACAGATCTACCTGGTTTTGAACAAGATCTATTTGTTAGAGCCTTGATTTTTTTTTTTTTTTTTTTTTAAGAGACGGAGTTTCCCCATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACTGCGCCGGGCCTTAGAGTCTTGATTTTTAAGGGTCTAATGCTGCCATTGCTAACATTATTATAGATTGTTTCGGCTGTTGATGAGGTTATGTAATTAAAATTCCTCCTTTCACAGAAGACTAACTGAAGTCTATGACAGTTAAGCAATTTTTCCAAAGTCATGCCACCAACTGGCGGTAACGCTGGGTCCCCATGTTCATTACACCACATTGCTTCCTGAGAAATCAGCTCAATTTAACAACTTCCACCATAAATAGAAAGCCAGAAATATAAATGTGTTACAACTCCTGCCTTTAAGAAAACTGGAGCCTTTCTGGAAAGAAAACACATAAAAAAACTTAGCAAACAATGCAAGACAACAATATTAAAGAAAATAAGACAAAGGGCCAAAATTTACAATATAGACTTTAAGAGCTATAGATCAGAAGAGGAAGAATCTGGGATGAGCCTTTAAAAGCCTGGCAAGATTTAGACAGGAGAAAAGGAATGGAGAGTGAGATGGCAGATAAAGAAGTGATGGCATGAACTAAGGAAAGAATGGGTAAAATAAATATGGAACAACATATGGAAATCAGTCTGATTAGGGGAAGAATACATTTCACTTCAGTAGACACAATTCTTTCCCTAAGCCATCTAAAAGGGGACAGGAAGAAAACCTAGGGGATTTAAGAATTTATAATTAAACTCTCACTTAGCAGGAAGCCTAGACATAAGATTACAAGATTAAATAACACAGAATTTTCCTGAGTCCTGAAAAATTAGCAGCAGATGGCAGACAAACTTCTGAATCCAAAGATTTATGATCACACTGGGCTTGCGAAAGTGGTCACAGCCTAATCCTGGTTTTGTCATCTTGTTACATTGAAAGATACTTATTTTATTGTCTCCCATGGCCAAGACACTTTTCGAGGATTAGACACTTATTTCAAATATCCCGGGATGCCATCAAAATATAACATTCACTAAGGTTCCACATAAAATTGTGCTTAATATACCAGGCAAAAAAACATGAGGCAGAAAGGCTGTGTATAAAAATTTTGATCCTCCATGTTAACAGTAGCCCAGGAGCCTGCCTCTATGGAAACTAAACACTGTTCTAAACCACATAATCACTGGTTTGTATGTCTAGTTGTGTTTCTAATTCTTACTTTTATTGTGACAGCAGCAACAGAAAATTTGCTATATACCACGATATAGATGGTAGAAGTCAGTCCTTCCAAGCTTCCTGGTTCATACCTTTAATTCATTTCAAGTAAGTGAGGTGGTTTAACATCATAACTTGTGTTGTAACAACTGTACTCTGAACGTTAACTTCTGCATTTAAGTAAATACCACCATCTGCTTAAGCAATAAGGAAATCTATCTCCACCCACAAGTGTGGTAACTCCTGTCATGCCTGTCTATCTGGTATGGAGGCTTCCCCTAGGAATCACTCACCTGCACAGATCTGAACGTAGTAATGAAAGGCAACATGATATGATAGACTGGTCCACTGGGGCTAGTTAGTAAAGCTCCTCCCCTGCAAAAAGATGTTTCAATTTGACAAAATTATAAAAAGAAAAATTATCTTTCCAAATCTAAAATGCTATAATAAATACTCACTCTTGCTCATGCTGCTGACCTACTAAAGCCTCACTAATATGAATTGCTCATAATGAACAACTGCTTAAAATACCTCCACACCTAAAAAGGGAAAAAGATCAAATTAAACTGCCAATGTTACACCTTGTTTCATAAGCTCAACCAACCGTACCTCTGGGTCTCCAGCACTGCTCTAAGGTTCAAAGGATTCTCCTCGGTCTTTAACCTTCTGAGAAATATTTGTTTAAAAAATTCTAATGGCTTTCAGTAGAGGTACATTAATAGTACATAACAAGAGCCAAATCAAAATATATAATACATTTAATCACCAGGTTGAAAAAAAGACAATGCAAACTTTGAAGTAAAGAGAAAATTTCTGAGGCTTATAATTCTTTCGATCTATCTACAAGGTAATTAAAATACTGGGAACATAAAATTTCTATATAAAAACAAAAAATTAGCATGAAAAGATGAAGGGTGACAAGACTATACAAATAAATAGCATAAGGGCTTGTTAACCAAATCCTGGAATGTGAAAACTATGAAAGCAAGCCCTGGAAATTATAAAAAGGAGGCATTTGGGGAGCAAAGAAAACAAAGTCCTATTTTGCACCTTGTAAATTCATAGAACTTAGCTACCGGTCTTGAAAATATAAACACATTTGCAAGGTCATAATAACAAGGAAAGATGAACTGTTTGAGGTTCATTACTAATTCTTTGAGTCATTCCTTGAAATGTCCTTTCTCTGGTTTTACTGTCAGAAAGACAATGCTTTTAAACTGGAAGGAAATCTGGACTAATCTGTAATTTCTTATGTAGAGCTCCATCTGCTAAGATATACCATTAAAATTGCTCTTTTTCTAGGATTCAGGATGGATTTGAAAGTAGAAATATCAGTTTTGAGGGATAGTGGAAACAAGCAAAAAGTTGACGCTCTTTTTGAATACACCATTATCCCAATTTCTCCACAAACTGGCCTCTCTTACTAGTCTGTATCAAAAGGAACTTGTGGTAATTAGGCTGAAGGAAAAGCTAAGCGAGCTCAACAAGAGAGCAACAGCTCCCACACCACTCCTGTCCCCAACTTGAACAGCAACAGTAAGGAGGGAGGAGCATGGCCCATCAGTGTTGTGCTTATGTCCCTGGAGGTCCAGGGACATAAGCACCATCACAGTCATCATGGTGTTACAAGACGTAACCAGACACTGGAAGCTTTTAAATGAAAAAGTCTAAGAAACAACCATAAACATACAGCATCTACAGCGGCAAACTAAAGCCTGTACAGTTGAACGAACTATAATTTATCCATCTCTTCAGTTAGAGGTAGAGTGACTACTTCCTTTCTTCCTTCTTCATTTTTCTACAAATAATTGAGTTTGCTGTGTATAGGAATAACCGTAGGGAGACTTAATCTCTGCAACAAAACGAACATAGCACTAAAACTGTCCAACATCTGGAGGGTGCTCCGCAAAAGCCCGCTTCGACCCCCGTGCTCTCCCTAGAGATGGGACATGCGCCCCCGAACGTTGCAGAGGGAACAACTTCCCAGACTCCACTCTGGAGTACCCTTTTAATCTGCTCTAGAGCCCTAACTGACTGCACATGCCGCTCACCTGTAGTACACAGCCAGATGGCCCTCCTCAATCTTGTGGATGGAGGCGTAGAGCAGGACAGCCACCAACCCCACCACTGCAGCCACCAGAACCCGGGCTTGAGTCATATTCATTCTCGTTCCTCCTGGGAGCGGGAGAAAAGGACCCTCAGTCCCGTGAGTGACAGGTCCACCCCCTCCAGTTTCTACCCTCTCCCTCCGGAAACTTGGCGCTCTCTCGCAGGCTGAGCCGGGGAGTCCAGTACCCCTGTCCCCTCATTCTTCCCTTCTGGCTGAGCCCGCTGACCCCTTGCCAACTCCTCCGCCCCCGGAGGCCAGTGGGCCGCCCCTGCTCGGT
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Task1_train_14366
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Here is a genetic alteration in CWF19L1 (CWF19 like cell cycle control factor 1) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal recessive spinocerebellar ataxia 17
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ACAGTGGTGCAATCATACCTCACTGCATCCTCAAACTCCTAGGCTTAAGTGATCCTCCTGACTCTCAGCCTCCTGAGTAGCTAAGACTACAGGCACATGCCACCATGCCAAGCTTATTTTTTTATTTTTTGTAGAGACAAGGTGTCTCACTTTGTTGCCCAGGCTGGTATCAAACTCCTGGCTTCAAGTGCTCCTCCCGCCTCAGCCTCCCAAAGTGTTGGATTACAGGTGTGAGCTACCATGCCCAACCCATTGCCTATTTAATAACATTTTTGGAATGCCTTGATAGCTCAACATGTCAAAAACCTTAGGCTCAACATGTCAAAAACCAGATCTTGCCAGGCGTGGGTGGCTCATGCCTGTAATACCTTCGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCGACTAAAAATACAAAAAGTAGCCAGGTATGGTGGCGCATGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTAGGCAACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAACAAACAACAACAAAAAAAACAGATATTTACTCTTCCCTGAATATCACCATCCCCTGTTTCACCTGCTTGATGTCAGAGTGCTCTGGGATTTCCAACAGCTCTATCTGCTGCTCCTGTGCCTGGGTAATGAAGGCATCTTTAATGTCATCAGTAGTAGAGCAGCTGATTGGGACAGGAATGACCTGGGGGTTGGGGAGACAGGAGAAATTCCTTGTGCAGGTCCCAGAGAAGTTGTGCCTGCACAGTCTCTGAGAAGTAGCAAATCCATCACAGGGGTGGAGAAACACCCCTCAGCACAGAATATCCTCAGGCCAGACAAGCCTGTGTCAGCCTGTCTGTAAGGACTTAAACTTATGAGATAGCCTGACACATGTGGGAGCCATTCTCTGATGCAGGAAAGGCTTAAGAGAGATATCTCCGTCACAAGCCTTTGCCATCTCCGATATTATATATGTGGCAGAGTTAGGCCCATTTGAAAACTTAACAAATGTGCCAAAAAGAAAACCACCACAACTACAAATGATTTACAATCTGATTTTCTGAGCTGCTAGCCCCATGCAGGCTTTGAGACTATTTCCTACCACTAAGCTTTCCCTCATGCTGGGCCTCCACACAAAATACTCACTTTCTTCCAAATTCTTATCCAGCAAGCCCCACATCTTCCTTGGAACTTCCTCAACTACCCATTCCTTTTCTAAACAAGGAACTTACTATCTATGCTGTTTACATGTACTGACCACACACTTCCCTGTGAAGTCTCTGGGGTTACCACCAGATACTCTTTAAAAACTTTTTAAATGAATGTTATTTAAATATTAATATAAAAATATTAAATATTTTACATATTAAAGCTAAACTTTATATAATTTTTTTTTTAAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCAATCCAACCGCTTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCCTATTTAAATACTTATTTACCAATATCAAAGTCCCCATAGCGCCCTTCCAAGTTTCTATGAACAGACCACCTACCTGTAGCTGGAGGTGATGGCTCTTATAATTTCTCTCAAATACAACACACCATTTCCCTCGACTCTTAAAGAACCGTCTCAGAGTGGCCTTATACTTCTCCACCTCTTCTACCACCTCTGCTGAAAGCTCCACCACTGACTGGTAGTGTCCAATAGGCAGGATGAGGACATGGTCATCAGATAAGCCTCCTTTGGCCAGGGCAAGGTAGCACTGAAGAAGCAGCACACAGAATTGAGACATCAATACAGCATGTAGGATTCTCCAGGGAGAAAAACCTATACAAAAAGTGAGCCTGAGGGTGTAGGCGAAAAGTACTTGAGGTTATTAATAAAAATTCTTTCTTGAAAAAATCTGATTTTAGAGATTGTAGCAACAATGTTCTCAGGTATCCGCTGAAGAGTGAGATTCGGCATGAAAATTTCTATGCAAGTAGCAAATGAACTAGGAGCAAATGAATTGGGAGAGGCACACAAGCAGGCTTTTGGCTTCAAACACACTGAGCTGAGGGAGACCAGAACAAATCGCTGGGTTTTCCCTCCCATGCTCCAAACTTGAAAACAGTTTTTCAGTTTTTATCACCCTCAACCACAAAAAGATACAACTTCTGATTTCAAAATGACCACTTTCGGCTGGGATAGTGGCTCACGCTTGTAATCCCAAAACTTTGAGAGGCCGAGGCAGGTGGACCGCCTGAGGTCAGAAGTTCCAGACTAGGCTGACCAATATGGTGAAACCTCATTTCTACTAAAAATACAAAAATTAGCCAGGCCTGTGATGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAATGACCCCTTTCTGCCTCCCCAGTAACTTTCATTCCCACCCCCACCCCCGAATATACTCCTTGGGCTCACAAAAAAAGCTAAGATGGCATGATTAGCATCTAATGTTCCTAAGCCTTAAGCTGCTGACTAAATTCTACAAAACAAAAGCAAACATACAACCTAATGGGGTAGAAGGAAAGTAAAACCTCAAACTCAGATGCATCCAAAGAGGCAGAAAAGAATGATTTCCAACAATGGATGTCAGCCTTTAATGGCAACTAAAAATATTTCTGTAAAAACCAAAACATGCAAGAATGGTCTACCACTCAGATATTCTCTGATGGGAAGATGCCATGAGTGAGCACAGAAGGGCCCAATGAGTACCAGTACAGGCAAATATAGATACGTTAGAAAACAATTATCCAGACCGGGTGCGTTGGCTCATGACTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAATGGATCGCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGACTGAAGCAGGTGAATTGCTTGAACCTGGAAGGCGGAGGTTACAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAACAAGACTGTCTCAGGAAAAAAAATAAAAAATTATTCCAACTATGCTCTTAGTGTGGTGGGCTCAAAGTTAAGGCTGAAGGAAGGAATCACTTCTCATCTATAATAAGAAAGTCCAACAGAATGACAGGATATGTATTGGAAAGATACTAAAGCATGATTGTCCTTGATTTGTTTGGCAGAGAGGACTGAGCATATTGACAAAGTTAATTTTCCAGATGACTAAAGTTGATGAAAACCTCACAGGCACTAAAAACTTTTTTTTATTTGTATAATAACCACTTTATATTGTATTTGTTTAAAAGGTTACTCTAGAAGCCTGAGTCGTCTAGCTATTTTTGTCAGAAGGTCACTGCCATAAACATCAGCTTCTCTATTATGATGTGCATTCTTTAGGTAATGATGTCTAAACTAAAGAGCTCCTCTGCACCATCTCTAATCCTGTACTTGCAATTTTTGTGAATAGTTTCACGCTTGCCTAATCTCCTCTCTCTTTCAAACTCTCACCTTCTAATCTGTTCTATACTAGAATTATCTCTAACCATGTGTAAATAGGACCTGGATAAATGGTTCTCCCCGTAAGTAAAATGCATTGATTTTGCAATAATTATTTTACACTCTCAGCAGCCCTT
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ACAGTGGTGCAATCATACCTCACTGCATCCTCAAACTCCTAGGCTTAAGTGATCCTCCTGACTCTCAGCCTCCTGAGTAGCTAAGACTACAGGCACATGCCACCATGCCAAGCTTATTTTTTTATTTTTTGTAGAGACAAGGTGTCTCACTTTGTTGCCCAGGCTGGTATCAAACTCCTGGCTTCAAGTGCTCCTCCCGCCTCAGCCTCCCAAAGTGTTGGATTACAGGTGTGAGCTACCATGCCCAACCCATTGCCTATTTAATAACATTTTTGGAATGCCTTGATAGCTCAACATGTCAAAAACCTTAGGCTCAACATGTCAAAAACCAGATCTTGCCAGGCGTGGGTGGCTCATGCCTGTAATACCTTCGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCGACTAAAAATACAAAAAGTAGCCAGGTATGGTGGCGCATGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTAGGCAACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAACAAACAACAACAAAAAAAACAGATATTTACTCTTCCCTGAATATCACCATCCCCTGTTTCACCTGCTTGATGTCAGAGTGCTCTGGGATTTCCAACAGCTCTATCTGCTGCTCCTGTGCCTGGGTAATGAAGGCATCTTTAATGTCATCAGTAGTAGAGCAGCTGATTGGGACAGGAATGACCTGGGGGTTGGGGAGACAGGAGAAATTCCTTGTGCAGGTCCCAGAGAAGTTGTGCCTGCACAGTCTCTGAGAAGTAGCAAATCCATCACAGGGGTGGAGAAACACCCCTCAGCACAGAATATCCTCAGGCCAGACAAGCCTGTGTCAGCCTGTCTGTAAGGACTTAAACTTATGAGATAGCCTGACACATGTGGGAGCCATTCTCTGATGCAGGAAAGGCTTAAGAGAGATATCTCCGTCACAAGCCTTTGCCATCTCCGATATTATATATGTGGCAGAGTTAGGCCCATTTGAAAACTTAACAAATGTGCCAAAAAGAAAACCACCACAACTACAAATGATTTACAATCTGATTTTCTGAGCTGCTAGCCCCATGCAGGCTTTGAGACTATTTCCTACCACTAAGCTTTCCCTCATGCTGGGCCTCCACACAAAATACTCACTTTCTTCCAAATTCTTATCCAGCAAGCCCCACATCTTCCTTGGAACTTCCTCAACTACCCATTCCTTTTCTAAACAAGGAACTTACTATCTATGCTGTTTACATGTACTGACCACACACTTCCCTGTGAAGTCTCTGGGGTTACCACCAGATACTCTTTAAAAACTTTTTAAATGAATGTTATTTAAATATTAATATAAAAATATTAAATATTTTACATATTAAAGCTAAACTTTATATAATTTTTTTTTTAAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCAATCCAACCGCTTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCCTATTTAAATACTTATTTACCAATATCAAAGTCCCCATAGCGCCCTTCCAAGTTTCTATGAACAGACCACCTACCTGTAGCTGGAGGTGATGGCTCTTATAATTTCTCTCAAATACAACACACCATTTCCCTCGACTCTTAAAGAACCGTCTCAGAGTGGCCTTATACTTCTCCACCTCTTCTACCACCTCTGCTGAAAGCTCCACCACTGACTGGTAGTGTCCAATAGGCAGGATGAGGACATGGTCATCAGATAAGACTCCTTTGGCCAGGGCAAGGTAGCACTGAAGAAGCAGCACACAGAATTGAGACATCAATACAGCATGTAGGATTCTCCAGGGAGAAAAACCTATACAAAAAGTGAGCCTGAGGGTGTAGGCGAAAAGTACTTGAGGTTATTAATAAAAATTCTTTCTTGAAAAAATCTGATTTTAGAGATTGTAGCAACAATGTTCTCAGGTATCCGCTGAAGAGTGAGATTCGGCATGAAAATTTCTATGCAAGTAGCAAATGAACTAGGAGCAAATGAATTGGGAGAGGCACACAAGCAGGCTTTTGGCTTCAAACACACTGAGCTGAGGGAGACCAGAACAAATCGCTGGGTTTTCCCTCCCATGCTCCAAACTTGAAAACAGTTTTTCAGTTTTTATCACCCTCAACCACAAAAAGATACAACTTCTGATTTCAAAATGACCACTTTCGGCTGGGATAGTGGCTCACGCTTGTAATCCCAAAACTTTGAGAGGCCGAGGCAGGTGGACCGCCTGAGGTCAGAAGTTCCAGACTAGGCTGACCAATATGGTGAAACCTCATTTCTACTAAAAATACAAAAATTAGCCAGGCCTGTGATGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAATGACCCCTTTCTGCCTCCCCAGTAACTTTCATTCCCACCCCCACCCCCGAATATACTCCTTGGGCTCACAAAAAAAGCTAAGATGGCATGATTAGCATCTAATGTTCCTAAGCCTTAAGCTGCTGACTAAATTCTACAAAACAAAAGCAAACATACAACCTAATGGGGTAGAAGGAAAGTAAAACCTCAAACTCAGATGCATCCAAAGAGGCAGAAAAGAATGATTTCCAACAATGGATGTCAGCCTTTAATGGCAACTAAAAATATTTCTGTAAAAACCAAAACATGCAAGAATGGTCTACCACTCAGATATTCTCTGATGGGAAGATGCCATGAGTGAGCACAGAAGGGCCCAATGAGTACCAGTACAGGCAAATATAGATACGTTAGAAAACAATTATCCAGACCGGGTGCGTTGGCTCATGACTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAATGGATCGCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGACTGAAGCAGGTGAATTGCTTGAACCTGGAAGGCGGAGGTTACAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAACAAGACTGTCTCAGGAAAAAAAATAAAAAATTATTCCAACTATGCTCTTAGTGTGGTGGGCTCAAAGTTAAGGCTGAAGGAAGGAATCACTTCTCATCTATAATAAGAAAGTCCAACAGAATGACAGGATATGTATTGGAAAGATACTAAAGCATGATTGTCCTTGATTTGTTTGGCAGAGAGGACTGAGCATATTGACAAAGTTAATTTTCCAGATGACTAAAGTTGATGAAAACCTCACAGGCACTAAAAACTTTTTTTTATTTGTATAATAACCACTTTATATTGTATTTGTTTAAAAGGTTACTCTAGAAGCCTGAGTCGTCTAGCTATTTTTGTCAGAAGGTCACTGCCATAAACATCAGCTTCTCTATTATGATGTGCATTCTTTAGGTAATGATGTCTAAACTAAAGAGCTCCTCTGCACCATCTCTAATCCTGTACTTGCAATTTTTGTGAATAGTTTCACGCTTGCCTAATCTCCTCTCTCTTTCAAACTCTCACCTTCTAATCTGTTCTATACTAGAATTATCTCTAACCATGTGTAAATAGGACCTGGATAAATGGTTCTCCCCGTAAGTAAAATGCATTGATTTTGCAATAATTATTTTACACTCTCAGCAGCCCTT
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Task1_train_14367
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Given this variant in gene NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 32
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GCAGTGGTGGGGGAAAGCACAGAGGAGACAAGGCTGGGACGTGCTTTAGGGGCTGCTGGCTTTACCAACAAACAGCTGTCAGAGAACACAGCTCAAGGGGAGGAGAAAAGGGTGATGTGCTTACAGAACTGAAAAATGGAAGAGCCACACTGTTCCTTGCTCTCCTGAAGTGAAGTTAGTGCTCACCCTAGCCCTACGTGCATTCTCCAGCATGGAGCCCCTGGGGCTTGGTAGGAAGGCTCGTGTCAGTGCACACAGACATACCAGCTACCTTCAGGACATTGATTGTCTCTGCAGAGGTAGCACTGGGCAGCCAACTGCAAACACAGCAGCCTCCCTGCTTTCAGCTTCTCTCCTTCCAGTACATCCTGGAGACTACTCCTGGATTAATCTTCCTAAGAACTCAGCATTCATTATGTCACTTTTCTGTTCGAAAACCCAAAATGGCTCCCTGCCACCTAGAGGCAGACCAAGTCATCACTGTATCCCCAACCGCTAGCACAGTCTGCATCTGGTACATAGTACAGGCTCCATAAATATTTGTTCAATTAATGCTTTATTACACCATCAAGTCCAAATCCCTTAGCAATGAAATAAAAGCTGCCCAACCTAACTGACCAACTTACCTCACAATATTTTTTAACACAGTGATTTCCAAATCTAGGTGCACATCAGAATTACCTGGGAGCTTGTTAAAAATACCGCTTCTGGAACCCTACTGTGATGCTACTGAATTAGGAGCACCAAGAAGTGGGGCCTGGGAATCTGGGTTTTTAGCAAGTCTCCAGGAAACCAATGCAGCCGGTTATTTAGGAACGATTCTATACCTCTATTCTACTCCAGCTAACTCACCCTCCTTTTCCTTCATTGTTTTCTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGGGCAGTAGTGTGATTTCAGCTCACTGCAACCTCTGCCTCCCAAGTTCAAAGGATTCCTGTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATGCCTGGCTAATTTTTTTGTATACTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCTGCCCACCTCAGCCTCCCAATGTGCCGGGATTACAGGCGCAAACCACCATACCTGGCCGCCTTCATTGTTTTCTCTTGCCCCAAATGTTTTCTCCAACTTCCCACCACCCAAAGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACATTCACTATACACATATATACACATAGATTGTACAGAATTCCCATATATCTGTTCAAATGTTGCTCATGTAACTTATCTAAATTTTCTTAACTAAACTTCCTTAAAGCTAGAGAATTCATTTTCTATGTCCTTTACATTCTCCAAAATGTAAGTCTATGCCTGTAGTAGACTCTTAATTGCTTCCAATATACTACAGGACGTGCCCTTCACAAGTCCAACAAAGGATAAGATTTTCACTCAAGATTCCTTAACTCTACTGTGAAAGATCACTTAATGAAATATTGTTAATAAATATAATCCCCAAATGGCAACTCTGGTGACTAGCTGGTTTCCACACACTCATTGCTCATCTAGTCTTCAAGTGTATCTACTCACCCAGACTGGTCCAAGAAGTAGGGGTGGAGAAGTGCTGTGGTACTTGTGGCAGGCCAATGGGTCAAGGCCCTCCTATCTTCCTATCTCCTAAGACTCCAGGAAGCCAAGCTTGGTATTGACTGGATTCCTACCCCAGAGACTTCACTCCCTCAGGAAATGGGGCTAAGCAAGCGTGCCTAAGGGAGCACTTCTCGGATACTCACCACAGGCTGGTAGACAGGGTACACGTCCCCCACCCAGCACATGAATATCATGAAAGCCAGGAAACCGAAGAGCTGCATACACATGACATGCCAAGAAACAGGTGTGGGGGATGTATCCACACGGTTCCTGTTGTACATGTCTAGGTGCCAGTGCATCTGAGGCAGAAAGACAAATAGCTGTCACATACTACTCTTCCTGCAAAATGCAGGCAAGTCCCCAGTGATTAGAGCCTGATACAAGGCTAGACAGAAGCATTCTACTGCCCTGGGACAATATGCTGAGAACCAGGTCTGAGGCACACTGCCCTACAGGATTAGATGCTGGCCTCTGTCTAGGTTCTGCTGAATAGGGACAGCTCCATCATGGAAGTGCACAACTTTCACAGTACAGAGTTTCATGATTCCCAGACGTCCCATTCAGTGTGCCACATGCAATCTCAGATCTCACATCACTGGACCTTGCTTCCTTGAGCAGGAAAGCTTAGTGTTACTTGGTCAAAGAAGTGCCATCTGAGCTAAAGAATCGCCAAGAAGACAAAGAGAGAAGGAAGGTCAAATGAGATATGGTTCTCTTACCGGTTCACCCCAGTTCAACCTCAGGCCCGGCTGGTCCCAGCTATACCATGGATCTCTCTCATGCTGTGAGCGGTCAGGGAGCTTCGGGTAGTCGCCATACCTGAAAGACAGCAAGAACTTCTGGAAAGGGCTGTGAGCAGCCTCAGACAATTCAGAGTCTCCTCATCTTATAGATGAGAAACAAAGTGACAGAGATAACTGCCTCACCTAAGGACAAAGGAACTAAACCTCAAGGCAAGAGCTCAAGTTCTAGTCACTAAGCACAGAATTAACCATAGAAGTCCACACTGTATTTAAAAGTTCATGGCAAACTCTGAAATATTTTAATGTACATAAGCCTTCCCTGGGCCAGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTGTGATATTAGAGATGAAAGGGAATTTAGCAATCAATTACAGTCATGTGCCACATACCATTTCAGTCAATGACGGACAACATACACGAAGGGGGTCCCATAAGTTTATAATAAAGCTGCCCTATACATATGTACCATTTTTTATCTTTTTCTCTTTTTTGAGACGGAATCTTGCTCTTGTTGCCCAGACTGGAGGGCAATGGCACAATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCGCCACGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCATTTTTTATCTTTTATAGCATACTTTTATGTACCTTTTCTATGTTTAGATACACAAATACCATTGTGTTACAATTTCCCACAGTATTAAGTATAGCAATATGCTGTACAGGTTTGTGGCCTCAGAGCAACAGGCCATACCATAAAGCCGAGGTGTGTAGCAGGCCATACCATCTAGGTTTCTGTAAGTACACTCCTAATGTTCATACAATGAGGAGATAACCTAACAACCCATTTCTCAGAATGTATCCCTGTTGTTAAGTGACATATGACTGTACTCTGATTCCCTCATTAGATAGAAAATGAAAAATTAAAGTTTAGAGTCTGAATCCAAAGTCACCCAGCTAATTGGAATAAAAACAAAAA
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GCAGTGGTGGGGGAAAGCACAGAGGAGACAAGGCTGGGACGTGCTTTAGGGGCTGCTGGCTTTACCAACAAACAGCTGTCAGAGAACACAGCTCAAGGGGAGGAGAAAAGGGTGATGTGCTTACAGAACTGAAAAATGGAAGAGCCACACTGTTCCTTGCTCTCCTGAAGTGAAGTTAGTGCTCACCCTAGCCCTACGTGCATTCTCCAGCATGGAGCCCCTGGGGCTTGGTAGGAAGGCTCGTGTCAGTGCACACAGACATACCAGCTACCTTCAGGACATTGATTGTCTCTGCAGAGGTAGCACTGGGCAGCCAACTGCAAACACAGCAGCCTCCCTGCTTTCAGCTTCTCTCCTTCCAGTACATCCTGGAGACTACTCCTGGATTAATCTTCCTAAGAACTCAGCATTCATTATGTCACTTTTCTGTTCGAAAACCCAAAATGGCTCCCTGCCACCTAGAGGCAGACCAAGTCATCACTGTATCCCCAACCGCTAGCACAGTCTGCATCTGGTACATAGTACAGGCTCCATAAATATTTGTTCAATTAATGCTTTATTACACCATCAAGTCCAAATCCCTTAGCAATGAAATAAAAGCTGCCCAACCTAACTGACCAACTTACCTCACAATATTTTTTAACACAGTGATTTCCAAATCTAGGTGCACATCAGAATTACCTGGGAGCTTGTTAAAAATACCGCTTCTGGAACCCTACTGTGATGCTACTGAATTAGGAGCACCAAGAAGTGGGGCCTGGGAATCTGGGTTTTTAGCAAGTCTCCAGGAAACCAATGCAGCCGGTTATTTAGGAACGATTCTATACCTCTATTCTACTCCAGCTAACTCACCCTCCTTTTCCTTCATTGTTTTCTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGGGCAGTAGTGTGATTTCAGCTCACTGCAACCTCTGCCTCCCAAGTTCAAAGGATTCCTGTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATGCCTGGCTAATTTTTTTGTATACTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCTGCCCACCTCAGCCTCCCAATGTGCCGGGATTACAGGCGCAAACCACCATACCTGGCCGCCTTCATTGTTTTCTCTTGCCCCAAATGTTTTCTCCAACTTCCCACCACCCAAAGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACATTCACTATACACATATATACACATAGATTGTACAGAATTCCCATATATCTGTTCAAATGTTGCTCATGTAACTTATCTAAATTTTCTTAACTAAACTTCCTTAAAGCTAGAGAATTCATTTTCTATGTCCTTTACATTCTCCAAAATGTAAGTCTATGCCTGTAGTAGACTCTTAATTGCTTCCAATATACTACAGGACGTGCCCTTCACAAGTCCAACAAAGGATAAGATTTTCACTCAAGATTCCTTAACTCTACTGTGAAAGATCACTTAATGAAATATTGTTAATAAATATAATCCCCAAATGGCAACTCTGGTGACTAGCTGGTTTCCACACACTCATTGCTCATCTAGTCTTCAAGTGTATCTACTCACCCAGACTGGTCCAAGAAGTAGGGGTGGAGAAGTGCTGTGGTACTTGTGGCAGGCCAATGGGTCAAGGCCCTCCTATCTTCCTATCTCCTAAGACTCCAGGAAGCCAAGCTTGGTATTGACTGGATTCCTACCCCAGAGACTTCACTCCCTCAGGAAATGGGGCTAAGCAAGCGTGCCTAAGGGAGCACTTCTCGGATACTCACCACAGGCTGGTAGACAGGGTACACGTCCCCCACCCACCACATGAATATCATGAAAGCCAGGAAACCGAAGAGCTGCATACACATGACATGCCAAGAAACAGGTGTGGGGGATGTATCCACACGGTTCCTGTTGTACATGTCTAGGTGCCAGTGCATCTGAGGCAGAAAGACAAATAGCTGTCACATACTACTCTTCCTGCAAAATGCAGGCAAGTCCCCAGTGATTAGAGCCTGATACAAGGCTAGACAGAAGCATTCTACTGCCCTGGGACAATATGCTGAGAACCAGGTCTGAGGCACACTGCCCTACAGGATTAGATGCTGGCCTCTGTCTAGGTTCTGCTGAATAGGGACAGCTCCATCATGGAAGTGCACAACTTTCACAGTACAGAGTTTCATGATTCCCAGACGTCCCATTCAGTGTGCCACATGCAATCTCAGATCTCACATCACTGGACCTTGCTTCCTTGAGCAGGAAAGCTTAGTGTTACTTGGTCAAAGAAGTGCCATCTGAGCTAAAGAATCGCCAAGAAGACAAAGAGAGAAGGAAGGTCAAATGAGATATGGTTCTCTTACCGGTTCACCCCAGTTCAACCTCAGGCCCGGCTGGTCCCAGCTATACCATGGATCTCTCTCATGCTGTGAGCGGTCAGGGAGCTTCGGGTAGTCGCCATACCTGAAAGACAGCAAGAACTTCTGGAAAGGGCTGTGAGCAGCCTCAGACAATTCAGAGTCTCCTCATCTTATAGATGAGAAACAAAGTGACAGAGATAACTGCCTCACCTAAGGACAAAGGAACTAAACCTCAAGGCAAGAGCTCAAGTTCTAGTCACTAAGCACAGAATTAACCATAGAAGTCCACACTGTATTTAAAAGTTCATGGCAAACTCTGAAATATTTTAATGTACATAAGCCTTCCCTGGGCCAGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTGTGATATTAGAGATGAAAGGGAATTTAGCAATCAATTACAGTCATGTGCCACATACCATTTCAGTCAATGACGGACAACATACACGAAGGGGGTCCCATAAGTTTATAATAAAGCTGCCCTATACATATGTACCATTTTTTATCTTTTTCTCTTTTTTGAGACGGAATCTTGCTCTTGTTGCCCAGACTGGAGGGCAATGGCACAATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCGCCACGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCATTTTTTATCTTTTATAGCATACTTTTATGTACCTTTTCTATGTTTAGATACACAAATACCATTGTGTTACAATTTCCCACAGTATTAAGTATAGCAATATGCTGTACAGGTTTGTGGCCTCAGAGCAACAGGCCATACCATAAAGCCGAGGTGTGTAGCAGGCCATACCATCTAGGTTTCTGTAAGTACACTCCTAATGTTCATACAATGAGGAGATAACCTAACAACCCATTTCTCAGAATGTATCCCTGTTGTTAAGTGACATATGACTGTACTCTGATTCCCTCATTAGATAGAAAATGAAAAATTAAAGTTTAGAGTCTGAATCCAAAGTCACCCAGCTAATTGGAATAAAAACAAAAA
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Task1_train_14368
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A variant was discovered in gene NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 32
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CCTCACAATATTTTTTAACACAGTGATTTCCAAATCTAGGTGCACATCAGAATTACCTGGGAGCTTGTTAAAAATACCGCTTCTGGAACCCTACTGTGATGCTACTGAATTAGGAGCACCAAGAAGTGGGGCCTGGGAATCTGGGTTTTTAGCAAGTCTCCAGGAAACCAATGCAGCCGGTTATTTAGGAACGATTCTATACCTCTATTCTACTCCAGCTAACTCACCCTCCTTTTCCTTCATTGTTTTCTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGGGCAGTAGTGTGATTTCAGCTCACTGCAACCTCTGCCTCCCAAGTTCAAAGGATTCCTGTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATGCCTGGCTAATTTTTTTGTATACTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCTGCCCACCTCAGCCTCCCAATGTGCCGGGATTACAGGCGCAAACCACCATACCTGGCCGCCTTCATTGTTTTCTCTTGCCCCAAATGTTTTCTCCAACTTCCCACCACCCAAAGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACATTCACTATACACATATATACACATAGATTGTACAGAATTCCCATATATCTGTTCAAATGTTGCTCATGTAACTTATCTAAATTTTCTTAACTAAACTTCCTTAAAGCTAGAGAATTCATTTTCTATGTCCTTTACATTCTCCAAAATGTAAGTCTATGCCTGTAGTAGACTCTTAATTGCTTCCAATATACTACAGGACGTGCCCTTCACAAGTCCAACAAAGGATAAGATTTTCACTCAAGATTCCTTAACTCTACTGTGAAAGATCACTTAATGAAATATTGTTAATAAATATAATCCCCAAATGGCAACTCTGGTGACTAGCTGGTTTCCACACACTCATTGCTCATCTAGTCTTCAAGTGTATCTACTCACCCAGACTGGTCCAAGAAGTAGGGGTGGAGAAGTGCTGTGGTACTTGTGGCAGGCCAATGGGTCAAGGCCCTCCTATCTTCCTATCTCCTAAGACTCCAGGAAGCCAAGCTTGGTATTGACTGGATTCCTACCCCAGAGACTTCACTCCCTCAGGAAATGGGGCTAAGCAAGCGTGCCTAAGGGAGCACTTCTCGGATACTCACCACAGGCTGGTAGACAGGGTACACGTCCCCCACCCAGCACATGAATATCATGAAAGCCAGGAAACCGAAGAGCTGCATACACATGACATGCCAAGAAACAGGTGTGGGGGATGTATCCACACGGTTCCTGTTGTACATGTCTAGGTGCCAGTGCATCTGAGGCAGAAAGACAAATAGCTGTCACATACTACTCTTCCTGCAAAATGCAGGCAAGTCCCCAGTGATTAGAGCCTGATACAAGGCTAGACAGAAGCATTCTACTGCCCTGGGACAATATGCTGAGAACCAGGTCTGAGGCACACTGCCCTACAGGATTAGATGCTGGCCTCTGTCTAGGTTCTGCTGAATAGGGACAGCTCCATCATGGAAGTGCACAACTTTCACAGTACAGAGTTTCATGATTCCCAGACGTCCCATTCAGTGTGCCACATGCAATCTCAGATCTCACATCACTGGACCTTGCTTCCTTGAGCAGGAAAGCTTAGTGTTACTTGGTCAAAGAAGTGCCATCTGAGCTAAAGAATCGCCAAGAAGACAAAGAGAGAAGGAAGGTCAAATGAGATATGGTTCTCTTACCGGTTCACCCCAGTTCAACCTCAGGCCCGGCTGGTCCCAGCTATACCATGGATCTCTCTCATGCTGTGAGCGGTCAGGGAGCTTCGGGTAGTCGCCATACCTGAAAGACAGCAAGAACTTCTGGAAAGGGCTGTGAGCAGCCTCAGACAATTCAGAGTCTCCTCATCTTATAGATGAGAAACAAAGTGACAGAGATAACTGCCTCACCTAAGGACAAAGGAACTAAACCTCAAGGCAAGAGCTCAAGTTCTAGTCACTAAGCACAGAATTAACCATAGAAGTCCACACTGTATTTAAAAGTTCATGGCAAACTCTGAAATATTTTAATGTACATAAGCCTTCCCTGGGCCAGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTGTGATATTAGAGATGAAAGGGAATTTAGCAATCAATTACAGTCATGTGCCACATACCATTTCAGTCAATGACGGACAACATACACGAAGGGGGTCCCATAAGTTTATAATAAAGCTGCCCTATACATATGTACCATTTTTTATCTTTTTCTCTTTTTTGAGACGGAATCTTGCTCTTGTTGCCCAGACTGGAGGGCAATGGCACAATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCGCCACGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCATTTTTTATCTTTTATAGCATACTTTTATGTACCTTTTCTATGTTTAGATACACAAATACCATTGTGTTACAATTTCCCACAGTATTAAGTATAGCAATATGCTGTACAGGTTTGTGGCCTCAGAGCAACAGGCCATACCATAAAGCCGAGGTGTGTAGCAGGCCATACCATCTAGGTTTCTGTAAGTACACTCCTAATGTTCATACAATGAGGAGATAACCTAACAACCCATTTCTCAGAATGTATCCCTGTTGTTAAGTGACATATGACTGTACTCTGATTCCCTCATTAGATAGAAAATGAAAAATTAAAGTTTAGAGTCTGAATCCAAAGTCACCCAGCTAATTGGAATAAAAACAAAAAGGGTACAGATTAGAAAAGCACTCTTCTCGTAATAACTGTGTTCTTGACCACCCAGTTGGCATTCATCTCTGCGTCTCAAACACCTCATGGGACCTCTTGCTAAGCTGGGTTTTCCCCAACAAATCCAGGTTCATCTGACACTGGCTTCGAACAAGGCTGCTCTTGTCCACAACATAAGAAAAAACAGGAAATGATGACAACTAGACATATGCTACAGAAAATGAGTGTATAACAAGAAGAATAGAAGTTGCTGAAACCAAGATTGAAAGAGTGACATTAGGACAGGAAATAAAGGCGATGATAATCACTTCAGATAATTAACCATTGGGATGTTATGTGGGTATGGATACGGAAGAGTGTGGAAGGGATAGGATAACATCAACTGGAGTACGTAAGGGGGCTGGCTGTTTAATCTGCTTAATAGTTGCTACGATTTCCACAGCACTAACAGAAAAACATTTTTTTTAAAGAGACATACACACAAATATAGAGTACTCCGTTTACAAATAAGATTCTCATGACAGGAGTCCAGCTCCAGCCTGGTCACATGCCTGGATGACAGCACCTGAGCGCAGCAGATGCTCAATCTAAATGAAACTCGACGCTCTGGATAGAGCCAAGGAAG
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CCTCACAATATTTTTTAACACAGTGATTTCCAAATCTAGGTGCACATCAGAATTACCTGGGAGCTTGTTAAAAATACCGCTTCTGGAACCCTACTGTGATGCTACTGAATTAGGAGCACCAAGAAGTGGGGCCTGGGAATCTGGGTTTTTAGCAAGTCTCCAGGAAACCAATGCAGCCGGTTATTTAGGAACGATTCTATACCTCTATTCTACTCCAGCTAACTCACCCTCCTTTTCCTTCATTGTTTTCTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGGGCAGTAGTGTGATTTCAGCTCACTGCAACCTCTGCCTCCCAAGTTCAAAGGATTCCTGTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATGCCTGGCTAATTTTTTTGTATACTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCTGCCCACCTCAGCCTCCCAATGTGCCGGGATTACAGGCGCAAACCACCATACCTGGCCGCCTTCATTGTTTTCTCTTGCCCCAAATGTTTTCTCCAACTTCCCACCACCCAAAGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCATCTAGGTAGCCCTTCTCCTTGACAGTAACTCATACCACTAAGCACATACATTCACTATACACATATATACACATAGATTGTACAGAATTCCCATATATCTGTTCAAATGTTGCTCATGTAACTTATCTAAATTTTCTTAACTAAACTTCCTTAAAGCTAGAGAATTCATTTTCTATGTCCTTTACATTCTCCAAAATGTAAGTCTATGCCTGTAGTAGACTCTTAATTGCTTCCAATATACTACAGGACGTGCCCTTCACAAGTCCAACAAAGGATAAGATTTTCACTCAAGATTCCTTAACTCTACTGTGAAAGATCACTTAATGAAATATTGTTAATAAATATAATCCCCAAATGGCAACTCTGGTGACTAGCTGGTTTCCACACACTCATTGCTCATCTAGTCTTCAAGTGTATCTACTCACCCAGACTGGTCCAAGAAGTAGGGGTGGAGAAGTGCTGTGGTACTTGTGGCAGGCCAATGGGTCAAGGCCCTCCTATCTTCCTATCTCCTAAGACTCCAGGAAGCCAAGCTTGGTATTGACTGGATTCCTACCCCAGAGACTTCACTCCCTCAGGAAATGGGGCTAAGCAAGCGTGCCTAAGGGAGCACTTCTCGGATACTCACCACAGGCTGGTAGACAGGGTACACGTCCCCCACCCAGCACATGAATATCATGAAAGCCAGGAAACCGAAGAGCTGCATACACATGACATGCCAAGAAACAGGTGTGGGGGATGTATCCACACGGTTCCTGTTGTACATGTCTAGGTGCCAGTGCATCTGAGGCAGAAAGACAAATAGCTGTCACATACTACTCTTCCTGCAAAATGCAGGCAAGTCCCCAGTGATTAGAGCCTGATACAAGGCTAGACAGAAGCATTCTACTGCCCTGGGACAATATGCTGAGAACCAGGTCTGAGGCACACTGCCCTACAGGATTAGATGCTGGCCTCTGTCTAGGTTCTGCTGAATAGGGACAGCTCCATCATGGAAGTGCACAACTTTCACAGTACAGAGTTTCATGATTCCCAGACGTCCCATTCAGTGTGCCACATGCAATCTCAGATCTCACATCACTGGACCTTGCTTCCTTGAGCAGGAAAGCTTAGTGTTACTTGGTCAAAGAAGTGCCATCTGAGCTAAAGAATCGCCAAGAAGACAAAGAGAGAAGGAAGGTCAAATGAGATATGGTTCTCTTACCGGTTCACCCCAGTTCAACCTCAGGCCCGGCTGGTCCCAGCTATACCATGGATCTCTCTCATGCTGTGAGCGGTCAGGGAGCTTCTGGTAGTCGCCATACCTGAAAGACAGCAAGAACTTCTGGAAAGGGCTGTGAGCAGCCTCAGACAATTCAGAGTCTCCTCATCTTATAGATGAGAAACAAAGTGACAGAGATAACTGCCTCACCTAAGGACAAAGGAACTAAACCTCAAGGCAAGAGCTCAAGTTCTAGTCACTAAGCACAGAATTAACCATAGAAGTCCACACTGTATTTAAAAGTTCATGGCAAACTCTGAAATATTTTAATGTACATAAGCCTTCCCTGGGCCAGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTGTGATATTAGAGATGAAAGGGAATTTAGCAATCAATTACAGTCATGTGCCACATACCATTTCAGTCAATGACGGACAACATACACGAAGGGGGTCCCATAAGTTTATAATAAAGCTGCCCTATACATATGTACCATTTTTTATCTTTTTCTCTTTTTTGAGACGGAATCTTGCTCTTGTTGCCCAGACTGGAGGGCAATGGCACAATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCGCCACGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCATTTTTTATCTTTTATAGCATACTTTTATGTACCTTTTCTATGTTTAGATACACAAATACCATTGTGTTACAATTTCCCACAGTATTAAGTATAGCAATATGCTGTACAGGTTTGTGGCCTCAGAGCAACAGGCCATACCATAAAGCCGAGGTGTGTAGCAGGCCATACCATCTAGGTTTCTGTAAGTACACTCCTAATGTTCATACAATGAGGAGATAACCTAACAACCCATTTCTCAGAATGTATCCCTGTTGTTAAGTGACATATGACTGTACTCTGATTCCCTCATTAGATAGAAAATGAAAAATTAAAGTTTAGAGTCTGAATCCAAAGTCACCCAGCTAATTGGAATAAAAACAAAAAGGGTACAGATTAGAAAAGCACTCTTCTCGTAATAACTGTGTTCTTGACCACCCAGTTGGCATTCATCTCTGCGTCTCAAACACCTCATGGGACCTCTTGCTAAGCTGGGTTTTCCCCAACAAATCCAGGTTCATCTGACACTGGCTTCGAACAAGGCTGCTCTTGTCCACAACATAAGAAAAAACAGGAAATGATGACAACTAGACATATGCTACAGAAAATGAGTGTATAACAAGAAGAATAGAAGTTGCTGAAACCAAGATTGAAAGAGTGACATTAGGACAGGAAATAAAGGCGATGATAATCACTTCAGATAATTAACCATTGGGATGTTATGTGGGTATGGATACGGAAGAGTGTGGAAGGGATAGGATAACATCAACTGGAGTACGTAAGGGGGCTGGCTGTTTAATCTGCTTAATAGTTGCTACGATTTCCACAGCACTAACAGAAAAACATTTTTTTTAAAGAGACATACACACAAATATAGAGTACTCCGTTTACAAATAAGATTCTCATGACAGGAGTCCAGCTCCAGCCTGGTCACATGCCTGGATGACAGCACCTGAGCGCAGCAGATGCTCAATCTAAATGAAACTCGACGCTCTGGATAGAGCCAAGGAAG
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Task1_train_14369
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This alteration occurs within gene NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 32
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TGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTGTGATATTAGAGATGAAAGGGAATTTAGCAATCAATTACAGTCATGTGCCACATACCATTTCAGTCAATGACGGACAACATACACGAAGGGGGTCCCATAAGTTTATAATAAAGCTGCCCTATACATATGTACCATTTTTTATCTTTTTCTCTTTTTTGAGACGGAATCTTGCTCTTGTTGCCCAGACTGGAGGGCAATGGCACAATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCGCCACGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCATTTTTTATCTTTTATAGCATACTTTTATGTACCTTTTCTATGTTTAGATACACAAATACCATTGTGTTACAATTTCCCACAGTATTAAGTATAGCAATATGCTGTACAGGTTTGTGGCCTCAGAGCAACAGGCCATACCATAAAGCCGAGGTGTGTAGCAGGCCATACCATCTAGGTTTCTGTAAGTACACTCCTAATGTTCATACAATGAGGAGATAACCTAACAACCCATTTCTCAGAATGTATCCCTGTTGTTAAGTGACATATGACTGTACTCTGATTCCCTCATTAGATAGAAAATGAAAAATTAAAGTTTAGAGTCTGAATCCAAAGTCACCCAGCTAATTGGAATAAAAACAAAAAGGGTACAGATTAGAAAAGCACTCTTCTCGTAATAACTGTGTTCTTGACCACCCAGTTGGCATTCATCTCTGCGTCTCAAACACCTCATGGGACCTCTTGCTAAGCTGGGTTTTCCCCAACAAATCCAGGTTCATCTGACACTGGCTTCGAACAAGGCTGCTCTTGTCCACAACATAAGAAAAAACAGGAAATGATGACAACTAGACATATGCTACAGAAAATGAGTGTATAACAAGAAGAATAGAAGTTGCTGAAACCAAGATTGAAAGAGTGACATTAGGACAGGAAATAAAGGCGATGATAATCACTTCAGATAATTAACCATTGGGATGTTATGTGGGTATGGATACGGAAGAGTGTGGAAGGGATAGGATAACATCAACTGGAGTACGTAAGGGGGCTGGCTGTTTAATCTGCTTAATAGTTGCTACGATTTCCACAGCACTAACAGAAAAACATTTTTTTTAAAGAGACATACACACAAATATAGAGTACTCCGTTTACAAATAAGATTCTCATGACAGGAGTCCAGCTCCAGCCTGGTCACATGCCTGGATGACAGCACCTGAGCGCAGCAGATGCTCAATCTAAATGAAACTCGACGCTCTGGATAGAGCCAAGGAAGGCTCCTGCTATTCGGGGGTCCTCGAGGGAGCCATTAAAACCTCGGCTTCCTCATTTGAGGAAACAGCCTGAGCCAAGGAGAAAATTGAAGTCCTCTCAGCTGCAGCTGCTCACCCACCCCCCTCCCACCTCCCTCCACAGAGAAAAGCACCCACTCCATTGACTCTGAGGGGTCACGAGAAGGTTCGGGAAAAAGGGTCACAGTCAAGCCACCCAACCCAGCCGGCCTTCTCCCATCACTACTTGGGTGCGAGCATACCCTCTCTGTCTCACCCCATGCCATCATCCGGGTAAGGTTCGTAGTCTTCCACACGCATATTATACTTCTTGGCGGCGGCGGCCCGTTCTTCTGGGGTCCTAGGATAGGGCCCCGGGAACATGTCCTTGGTCATGTGGGAGGCTAGAACGCAGAAGAGAACAGGTCAGAAGCGAGCCCGCTCTCCAGCCGCTCCGAAGGCTTCAAGTCGCAGGGGCTGCAGAGGTCCGAGCCCGGGACTTCGCAGGATCAGTGCGATCCTCCACCCCATTTTCTGGATATATCAACGCCACCTCCACTCCCTACCCGGAGGCTGCCGCCGCGGCATCTACGATCCCCCCTCCCGATACACCAAATTTCAGGTACCCCCTTCCCACACTGAGGTCTCGCCCGTTCTCGCGGACCTGTCCGTGCGCCCAGCGGCATCACGTTCCGGGATGCCCTTTGCAGCCACTGGACTCCCAAGACCCCGGCCCTGGCCACCGCCATCTTCACCTTCTTCACGTTTCCCTTCTGCACATGCGCAAAGGCCTGTCACGGCGGCTGAGCCGGGCCAAACGTGACGGAGGAAGCCGGGAGTGAAGAAAAGCCGAAGGGTTCAACAGGGGCGGGGTTTAAATACGCAGTTGGGAAGCCAAGGGTTGGATAGAGGCTGGGAAGGATAAGCGGGAAGAAGGGAAAACCAGGCAGGTCTCTGACATTTCAGAATGTTGTGTCCTTTTTCTCCCTGAGCTGACTTAGACCCATCCAGGGATGATGGGAACTCGGAACCTGAGCAACTCAGGTAGACAGCTTAACCACCTCCCCCAGGAGCTGTACTAGTGAAATGAGCCTGTCTTACTCTCTTCTCTGGCTGCTTGCTTTCCTCTCCTTCACGGGCACTTCCTTCCATCCCCAAACATGATCATTCTTCAAATTCACCTGTTGGTCTTGCTTGTTGTTCTGTTCTCCAAATGGGTTGATCTTCACTTAGACGCCAGTGCAACACACAATTCGGCCCTGAATTGGCTCCTTAGTTTCAGTCCGTGTTTCCATCTGCATGTCTCAGTCACCTCAACCCAACAAATGTAAAATTAAACTTATCACCAGAGGCAGCTCTCCAGAGACAGCTTAAAGCCTCAGAGTTGGTAGGACTTGGATAAAACAAATTACAAACCGGCCCATAATGAACAAACTAACTCAACAGAAGAATTGGAGACATTATTATGTTTGCATATGAATGTTTTCACTTGGGATTTGAATAACTTACACATTATAAATATGCACGTATTTCCAGTGACTTTTCAGGTGACCACTGTTTTGGAGCAGAACCTATTATTATAAACATTCTCAAGTATATATCAGAGCAATAAAAATGCATATAAGCTGGGAGCTGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCTAGGTTGGAGAATGGCTGGAGACCAGGAGTTTGAGACCAGCCTGGGTGACATAGTGAGACTTCGTCTCTTTTTTTTTAAGTTATAAAAAGTAAACAAATATGGATATATACTATTTAATATATAAATTTTGGGAAGGACTACACAGCAACTTGCTGTCTTGTAAATGACATCACTAGTTGATGTTCAGAATAATTGCACAACATCTGCATTCAACCAATAGCAAACCCTGATCCAATTTAGGTCAAGAAACAGAGTTGATCTAATTTATTTATTTTTATTAAGATATTATTCACATACCATAAATTCACCCTTTTAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATTACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACACAGCAAAAACCCATCTCTACTAAAAATACAAAAATAGCTGGGCATGGTGGTGTACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACACAGGAGATGGAGGTTGCAATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGGGTGAGACTGTCTCAAAAACAAAAAACAAACAAACAAAAACAAAAACAAAAAAACCTTTTAAAGTGTACAGTAGTTATTTTTAGTACATTTACAAAGTTGT
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TGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTGTGATATTAGAGATGAAAGGGAATTTAGCAATCAATTACAGTCATGTGCCACATACCATTTCAGTCAATGACGGACAACATACACGAAGGGGGTCCCATAAGTTTATAATAAAGCTGCCCTATACATATGTACCATTTTTTATCTTTTTCTCTTTTTTGAGACGGAATCTTGCTCTTGTTGCCCAGACTGGAGGGCAATGGCACAATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCGCCACGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCATTTTTTATCTTTTATAGCATACTTTTATGTACCTTTTCTATGTTTAGATACACAAATACCATTGTGTTACAATTTCCCACAGTATTAAGTATAGCAATATGCTGTACAGGTTTGTGGCCTCAGAGCAACAGGCCATACCATAAAGCCGAGGTGTGTAGCAGGCCATACCATCTAGGTTTCTGTAAGTACACTCCTAATGTTCATACAATGAGGAGATAACCTAACAACCCATTTCTCAGAATGTATCCCTGTTGTTAAGTGACATATGACTGTACTCTGATTCCCTCATTAGATAGAAAATGAAAAATTAAAGTTTAGAGTCTGAATCCAAAGTCACCCAGCTAATTGGAATAAAAACAAAAAGGGTACAGATTAGAAAAGCACTCTTCTCGTAATAACTGTGTTCTTGACCACCCAGTTGGCATTCATCTCTGCGTCTCAAACACCTCATGGGACCTCTTGCTAAGCTGGGTTTTCCCCAACAAATCCAGGTTCATCTGACACTGGCTTCGAACAAGGCTGCTCTTGTCCACAACATAAGAAAAAACAGGAAATGATGACAACTAGACATATGCTACAGAAAATGAGTGTATAACAAGAAGAATAGAAGTTGCTGAAACCAAGATTGAAAGAGTGACATTAGGACAGGAAATAAAGGCGATGATAATCACTTCAGATAATTAACCATTGGGATGTTATGTGGGTATGGATACGGAAGAGTGTGGAAGGGATAGGATAACATCAACTGGAGTACGTAAGGGGGCTGGCTGTTTAATCTGCTTAATAGTTGCTACGATTTCCACAGCACTAACAGAAAAACATTTTTTTTAAAGAGACATACACACAAATATAGAGTACTCCGTTTACAAATAAGATTCTCATGACAGGAGTCCAGCTCCAGCCTGGTCACATGCCTGGATGACAGCACCTGAGCGCAGCAGATGCTCAATCTAAATGAAACTCGACGCTCTGGATAGAGCCAAGGAAGGCTCCTGCTATTCGGGGGTCCTCGAGGGAGCCATTAAAACCTCGGCTTCCTCATTTGAGGAAACAGCCTGAGCCAAGGAGAAAATTGAAGTCCTCTCAGCTGCAGCTGCTCACCCACCCCCCTCCCACCTCCCTCCACAGAGAAAAGCACCCACTCCATTGACTCTGAGGGGTCACGAGAAGGTTCGGGAAAAAGGGTCACAGTCAAGCCACCCAACCCAGCCGGCCTTCTCCCATCACTACTTGGGTGCGAGCATACCCTCTCTGTCTCACCCCATGCCATCATCCGGGTAAGGTTCGTGGTCTTCCACACGCATATTATACTTCTTGGCGGCGGCGGCCCGTTCTTCTGGGGTCCTAGGATAGGGCCCCGGGAACATGTCCTTGGTCATGTGGGAGGCTAGAACGCAGAAGAGAACAGGTCAGAAGCGAGCCCGCTCTCCAGCCGCTCCGAAGGCTTCAAGTCGCAGGGGCTGCAGAGGTCCGAGCCCGGGACTTCGCAGGATCAGTGCGATCCTCCACCCCATTTTCTGGATATATCAACGCCACCTCCACTCCCTACCCGGAGGCTGCCGCCGCGGCATCTACGATCCCCCCTCCCGATACACCAAATTTCAGGTACCCCCTTCCCACACTGAGGTCTCGCCCGTTCTCGCGGACCTGTCCGTGCGCCCAGCGGCATCACGTTCCGGGATGCCCTTTGCAGCCACTGGACTCCCAAGACCCCGGCCCTGGCCACCGCCATCTTCACCTTCTTCACGTTTCCCTTCTGCACATGCGCAAAGGCCTGTCACGGCGGCTGAGCCGGGCCAAACGTGACGGAGGAAGCCGGGAGTGAAGAAAAGCCGAAGGGTTCAACAGGGGCGGGGTTTAAATACGCAGTTGGGAAGCCAAGGGTTGGATAGAGGCTGGGAAGGATAAGCGGGAAGAAGGGAAAACCAGGCAGGTCTCTGACATTTCAGAATGTTGTGTCCTTTTTCTCCCTGAGCTGACTTAGACCCATCCAGGGATGATGGGAACTCGGAACCTGAGCAACTCAGGTAGACAGCTTAACCACCTCCCCCAGGAGCTGTACTAGTGAAATGAGCCTGTCTTACTCTCTTCTCTGGCTGCTTGCTTTCCTCTCCTTCACGGGCACTTCCTTCCATCCCCAAACATGATCATTCTTCAAATTCACCTGTTGGTCTTGCTTGTTGTTCTGTTCTCCAAATGGGTTGATCTTCACTTAGACGCCAGTGCAACACACAATTCGGCCCTGAATTGGCTCCTTAGTTTCAGTCCGTGTTTCCATCTGCATGTCTCAGTCACCTCAACCCAACAAATGTAAAATTAAACTTATCACCAGAGGCAGCTCTCCAGAGACAGCTTAAAGCCTCAGAGTTGGTAGGACTTGGATAAAACAAATTACAAACCGGCCCATAATGAACAAACTAACTCAACAGAAGAATTGGAGACATTATTATGTTTGCATATGAATGTTTTCACTTGGGATTTGAATAACTTACACATTATAAATATGCACGTATTTCCAGTGACTTTTCAGGTGACCACTGTTTTGGAGCAGAACCTATTATTATAAACATTCTCAAGTATATATCAGAGCAATAAAAATGCATATAAGCTGGGAGCTGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCTAGGTTGGAGAATGGCTGGAGACCAGGAGTTTGAGACCAGCCTGGGTGACATAGTGAGACTTCGTCTCTTTTTTTTTAAGTTATAAAAAGTAAACAAATATGGATATATACTATTTAATATATAAATTTTGGGAAGGACTACACAGCAACTTGCTGTCTTGTAAATGACATCACTAGTTGATGTTCAGAATAATTGCACAACATCTGCATTCAACCAATAGCAAACCCTGATCCAATTTAGGTCAAGAAACAGAGTTGATCTAATTTATTTATTTTTATTAAGATATTATTCACATACCATAAATTCACCCTTTTAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATTACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACACAGCAAAAACCCATCTCTACTAAAAATACAAAAATAGCTGGGCATGGTGGTGTACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACACAGGAGATGGAGGTTGCAATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGGGTGAGACTGTCTCAAAAACAAAAAACAAACAAACAAAAACAAAAACAAAAAAACCTTTTAAAGTGTACAGTAGTTATTTTTAGTACATTTACAAAGTTGT
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Task1_train_14370
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The gene PAX2 (paired box 2) on Chromosome 10 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 7
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CACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGT
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CACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCAGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGT
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Task1_train_14371
|
This variant lies on Chromosome 10 and affects the gene PAX2 (paired box 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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CCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTT
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CCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACAGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTT
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Task1_train_14372
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The gene PAX2 (paired box 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Papillorenal syndrome with macular abnormalities
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ACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAG
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ACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCACGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAG
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Task1_train_14373
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Mutation context: Chromosome 10, Gene PAX2 (paired box 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Focal segmental glomerulosclerosis 7
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CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAGGGCAACTAATAATTCACATGGTGCCTTATTCTGAAATTGGCATCACATATAAAGGATTTTTTAAATATTTTGCAAATGATATGGAATTATCCCAAATCATCCTGAAAACAGCAGGTAAAATTAGCTGGTAGAATGTACCTTGGCTAAAGAAGATTCCCTCTGCCACACTCGTGCTGTAATGTACTGCGAGGCGACCCCAGAAATTATCCCAGTGTGTGCCATCTGTATTAAAATGGTTATTCAGTTATGAACAGGGTAACATAATACTGATCAGCTAATTATACACCCTCCGAAAACCCTCCAGCTCCCTCGGCCTGGCTCAGCCAGGTATTGAAAGCATAGCGATTTGACATTCAGATACCTTCCAAAGGAGCTGGAGAAAGACGCTGGGTGGTTTGGGAGAGGAATAAGCCCTTTGCTTTAAAAGCCAGGAGAGGAGGCTGGGGCAGCTTTGGGCTGAGGCAAGAGTGGCACTTCGGGAGGGGAAGGGGACAAAGCATTGTTTTATGAGCCATGTAGAGACTCAGTCTCTTGGCTGATTGCTGGTCCTGGGCATGAGTTGGAACTGAGATCTCAAGAGAAGAACAGCCAAGGGCCAAGAGTGGCCCTGCTGTGTGCAGTGTTGCTGGGACTGGGTAGTGGTCTTCTGCAGAACATTTAAGAGAAATGCTTGTTGTCAGTAACAGAATTTTCAAGCCTTTGGAGAAACCCAAGTCATGTAGGATTTAGGTAATTTGTTTCTCTTGAATGGGGTAGAGGAGTGGCGCAACAAGTCAGGTGTGGTGGCCCCGTCCAACACCCCCTGCCCCTCCCCTCA
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CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCAGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAGGGCAACTAATAATTCACATGGTGCCTTATTCTGAAATTGGCATCACATATAAAGGATTTTTTAAATATTTTGCAAATGATATGGAATTATCCCAAATCATCCTGAAAACAGCAGGTAAAATTAGCTGGTAGAATGTACCTTGGCTAAAGAAGATTCCCTCTGCCACACTCGTGCTGTAATGTACTGCGAGGCGACCCCAGAAATTATCCCAGTGTGTGCCATCTGTATTAAAATGGTTATTCAGTTATGAACAGGGTAACATAATACTGATCAGCTAATTATACACCCTCCGAAAACCCTCCAGCTCCCTCGGCCTGGCTCAGCCAGGTATTGAAAGCATAGCGATTTGACATTCAGATACCTTCCAAAGGAGCTGGAGAAAGACGCTGGGTGGTTTGGGAGAGGAATAAGCCCTTTGCTTTAAAAGCCAGGAGAGGAGGCTGGGGCAGCTTTGGGCTGAGGCAAGAGTGGCACTTCGGGAGGGGAAGGGGACAAAGCATTGTTTTATGAGCCATGTAGAGACTCAGTCTCTTGGCTGATTGCTGGTCCTGGGCATGAGTTGGAACTGAGATCTCAAGAGAAGAACAGCCAAGGGCCAAGAGTGGCCCTGCTGTGTGCAGTGTTGCTGGGACTGGGTAGTGGTCTTCTGCAGAACATTTAAGAGAAATGCTTGTTGTCAGTAACAGAATTTTCAAGCCTTTGGAGAAACCCAAGTCATGTAGGATTTAGGTAATTTGTTTCTCTTGAATGGGGTAGAGGAGTGGCGCAACAAGTCAGGTGTGGTGGCCCCGTCCAACACCCCCTGCCCCTCCCCTCA
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Task1_train_14374
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Gene PAX2 (paired box 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Renal coloboma syndrome
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CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAGGGCAACTAATAATTCACATGGTGCCTTATTCTGAAATTGGCATCACATATAAAGGATTTTTTAAATATTTTGCAAATGATATGGAATTATCCCAAATCATCCTGAAAACAGCAGGTAAAATTAGCTGGTAGAATGTACCTTGGCTAAAGAAGATTCCCTCTGCCACACTCGTGCTGTAATGTACTGCGAGGCGACCCCAGAAATTATCCCAGTGTGTGCCATCTGTATTAAAATGGTTATTCAGTTATGAACAGGGTAACATAATACTGATCAGCTAATTATACACCCTCCGAAAACCCTCCAGCTCCCTCGGCCTGGCTCAGCCAGGTATTGAAAGCATAGCGATTTGACATTCAGATACCTTCCAAAGGAGCTGGAGAAAGACGCTGGGTGGTTTGGGAGAGGAATAAGCCCTTTGCTTTAAAAGCCAGGAGAGGAGGCTGGGGCAGCTTTGGGCTGAGGCAAGAGTGGCACTTCGGGAGGGGAAGGGGACAAAGCATTGTTTTATGAGCCATGTAGAGACTCAGTCTCTTGGCTGATTGCTGGTCCTGGGCATGAGTTGGAACTGAGATCTCAAGAGAAGAACAGCCAAGGGCCAAGAGTGGCCCTGCTGTGTGCAGTGTTGCTGGGACTGGGTAGTGGTCTTCTGCAGAACATTTAAGAGAAATGCTTGTTGTCAGTAACAGAATTTTCAAGCCTTTGGAGAAACCCAAGTCATGTAGGATTTAGGTAATTTGTTTCTCTTGAATGGGGTAGAGGAGTGGCGCAACAAGTCAGGTGTGGTGGCCCCGTCCAACACCCCCTGCCCCTCCCCTCA
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CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCAGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAGGGCAACTAATAATTCACATGGTGCCTTATTCTGAAATTGGCATCACATATAAAGGATTTTTTAAATATTTTGCAAATGATATGGAATTATCCCAAATCATCCTGAAAACAGCAGGTAAAATTAGCTGGTAGAATGTACCTTGGCTAAAGAAGATTCCCTCTGCCACACTCGTGCTGTAATGTACTGCGAGGCGACCCCAGAAATTATCCCAGTGTGTGCCATCTGTATTAAAATGGTTATTCAGTTATGAACAGGGTAACATAATACTGATCAGCTAATTATACACCCTCCGAAAACCCTCCAGCTCCCTCGGCCTGGCTCAGCCAGGTATTGAAAGCATAGCGATTTGACATTCAGATACCTTCCAAAGGAGCTGGAGAAAGACGCTGGGTGGTTTGGGAGAGGAATAAGCCCTTTGCTTTAAAAGCCAGGAGAGGAGGCTGGGGCAGCTTTGGGCTGAGGCAAGAGTGGCACTTCGGGAGGGGAAGGGGACAAAGCATTGTTTTATGAGCCATGTAGAGACTCAGTCTCTTGGCTGATTGCTGGTCCTGGGCATGAGTTGGAACTGAGATCTCAAGAGAAGAACAGCCAAGGGCCAAGAGTGGCCCTGCTGTGTGCAGTGTTGCTGGGACTGGGTAGTGGTCTTCTGCAGAACATTTAAGAGAAATGCTTGTTGTCAGTAACAGAATTTTCAAGCCTTTGGAGAAACCCAAGTCATGTAGGATTTAGGTAATTTGTTTCTCTTGAATGGGGTAGAGGAGTGGCGCAACAAGTCAGGTGTGGTGGCCCCGTCCAACACCCCCTGCCCCTCCCCTCA
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Task1_train_14375
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Here’s a variant in PAX2 (paired box 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Renal coloboma syndrome
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TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCACATAGTAGATGTTCAGTAAGTGGAAAATGGTGATGGTTCTCATCACATCCAAGTTTTCATTCTTGTTTCCTCTTAGTCCCTTGCCTGTCTCCACTCATTCTGGCTGACCACTCTGGGCATTAACCCAGAAGGCAGCAGGCTCGCGTGGCTTCCGCTTCCACCAGCTTGTGATGCCCTCCCCTCTACTTCTTTGTTCATCTTAGGATCAAGTTATTTTTTACTGGGGAAAGAGACAGTGGAGATCCTGTAGTCCAACCCCTTCATTTAAAGCTGAAGAAACTGAGGCCCAGAGAAGTTGAGAGGTGAGACCAAGGCTATGTGGCTTCTTAAATGCAAAATCAGAAGCAGGACTCAGGGCCCCTGCCATGCAGCCCAGTGTCCTTTCCGCCATCCTCTGTGCCTCTGATTTCAGCCCTACTTGGCTTTGAAGATCTACATCAATTTCCCTCTGTTCAGCGACTTCTTCCGCAGTTCCCTCTCCTGCAAGGGGAATGGTTCCTCTCCTCCAAGTTTCCAGCACTAACTACCTGATTCCCTCGGGTAACTGAGCTTTTTTGGGGATTAAGTCTCCCCTCCCCACCTTCATATCCAGCACTGTGAGCTAGGGGCCTTATCCCAACTGCCTGCAAGTGTTCAGGAAAAGCTTTTAGAGCTGACTTGCTCATGGCTTGTGACTCACCTGGCTGGTTGAGGTGAGCTTGGCTCACATGCCTCTCTGTGGGGACAAGGAACGCTATCAGAAAAGTGGCTTCCAAAGGCCCCTCATTTGACCAGTGGGTAGGGGGAGCATTCCTCCGTCTTGGCCCTGGGACTGGTCTTTGGCATCATTGAGCCCTCGGTTTTTCAGATCCCTGAAAAGCAGGCTCCTGGAATGTTTGATTTGGCCCCTTCTCCCCAGGATGTACAGGGAGGGCACCAGACCTTTCAACCAGGCTGGCAAAGACGCTGCAATCCAAGTAAGAACCTCAGAAAAGGAGGCCAGCAAACCAGCCAGCCATATAGGAACAGGGCTCTGACTTGTTTGAGGGCAGTAAGTGGGCTCAAGAAGAGATTGTTCAGCCTGACATCTGGCAAAGGGACTGTGTGCTGTGTTGGAGTCCTGGGGACAAAAGAAAGGGTCACCTGTGACCCAGCCCCTCCCTGGCTACTTCTCATTCTTTCAGGATATGGGGAAATCTCATCCTCTCAACTCTGAAGGACTGTGACACAGTCCCAAGTAGGAAAGCCAGCTCCAAAATGATCTCAAAACCCAGGAGGTCCTGGTACCAGGAAGAGATGCGTGTGTGGTTGAGGAGAGAAAGGTGGACAACAAGCCACTAGGGCAGTCCTCACCCTGCAGAAAAAGAAAGGATGCTGTGCTCACTGGGTCTCTGCCCTGATCTTTGCTACCAAAAATCAAACAATAATTTGGGTGATGCACATAGCAGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCT
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TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCACATAGTAGATGTTCAGTAAGTGGAAAATGGTGATGGTTCTCATCACATCCAAGTTTTCATTCTTGTTTCCTCTTAGTCCCTTGCCTGTCTCCACTCATTCTGGCTGACCACTCTGGGCATTAACCCAGAAGGCAGCAGGCTCGCGTGGCTTCCGCTTCCACCAGCTTGTGATGCCCTCCCCTCTACTTCTTTGTTCATCTTAGGATCAAGTTATTTTTTACTGGGGAAAGAGACAGTGGAGATCCTGTAGTCCAACCCCTTCATTTAAAGCTGAAGAAACTGAGGCCCAGAGAAGTTGAGAGGTGAGACCAAGGCTATGTGGCTTCTTAAATGCAAAATCAGAAGCAGGACTCAGGGCCCCTGCCATGCAGCCCAGTGTCCTTTCCGCCATCCTCTGTGCCTCTGATTTCAGCCCTACTTGGCTTTGAAGATCTACATCAATTTCCCTCTGTTCAGCGACTTCTTCCGCAGTTCCCTCTCCTGCAAGGGGAATGGTTCCTCTCCTCCAAGTTTCCAGCACTAACTACCTGATTCCCTCGGGTAACTGAGCTTTTTTGGGGATTAAGTCTCCCCTCCCCACCTTCATATCCAGCACTGTGAGCTAGGGGCCTTATCCCAACTGCCTGCAAGTGTTCAGGAAAAGCTTTTAGAGCTGACTTGCTCATGGCTTGTGACTCACCTGGCTGGTTGAGGTGAGCTTGGCTCACATGCCTCTCTGTGGGGACAAGGAACGCTATCAGAAAAGTGGCTTCCAAAGGCCCCTCATTTGACCAGTGGGTAGGGGGAGCATTCCTCCGTCTTGGCCCTGGGACTGGTCTTTGGCATCATTGAGCCCTCGGTTTTTCAGATCCCTGAAAAGCAGGCTCCTGGAATGTTTGATTTGGCCCCTTCTCCCCAGGATGTACAGGGAGGGCACCAGACCTTTCAACCAGGCTGGCAAAGACGCTGCAATCCAAGTAAGAACCTCAGAAAAGGAGGCCAGCAAACCAGCCAGCCATATAGGAACAGGGCTCTGACTTGTTTGAGGGCAGTAAGTGGGCTCAAGAAGAGATTGTTCAGCCTGACATCTGGCAAAGGGACTGTGTGCTGTGTTGGAGTCCTGGGGACAAAAGAAAGGGTCACCTGTGACCCAGCCCCTCCCTGGCTACTTCTCATTCTTTCAGGATATGGGGAAATCTCATCCTCTCAACTCTGAAGGACTGTGACACAGTCCCAAGTAGGAAAGCCAGCTCCAAAATGATCTCAAAACCCAGGAGGTCCTGGTACCAGGAAGAGATGCGTGTGTGGTTGAGGAGAGAAAGGTGGACAACAAGCCACTAGGGCAGTCCTCACCCTGCAGAAAAAGAAAGGATGCTGTGCTCACTGGGTCTCTGCCCTGATCTTTGCTACCAAAAATCAAACAATAATTTGGGTGATGCACATAGCAGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCTGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCT
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Task1_train_14376
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A mutation on Chromosome 10 affecting PAX2 (paired box 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Focal segmental glomerulosclerosis 7
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TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCACATAGTAGATGTTCAGTAAGTGGAAAATGGTGATGGTTCTCATCACATCCAAGTTTTCATTCTTGTTTCCTCTTAGTCCCTTGCCTGTCTCCACTCATTCTGGCTGACCACTCTGGGCATTAACCCAGAAGGCAGCAGGCTCGCGTGGCTTCCGCTTCCACCAGCTTGTGATGCCCTCCCCTCTACTTCTTTGTTCATCTTAGGATCAAGTTATTTTTTACTGGGGAAAGAGACAGTGGAGATCCTGTAGTCCAACCCCTTCATTTAAAGCTGAAGAAACTGAGGCCCAGAGAAGTTGAGAGGTGAGACCAAGGCTATGTGGCTTCTTAAATGCAAAATCAGAAGCAGGACTCAGGGCCCCTGCCATGCAGCCCAGTGTCCTTTCCGCCATCCTCTGTGCCTCTGATTTCAGCCCTACTTGGCTTTGAAGATCTACATCAATTTCCCTCTGTTCAGCGACTTCTTCCGCAGTTCCCTCTCCTGCAAGGGGAATGGTTCCTCTCCTCCAAGTTTCCAGCACTAACTACCTGATTCCCTCGGGTAACTGAGCTTTTTTGGGGATTAAGTCTCCCCTCCCCACCTTCATATCCAGCACTGTGAGCTAGGGGCCTTATCCCAACTGCCTGCAAGTGTTCAGGAAAAGCTTTTAGAGCTGACTTGCTCATGGCTTGTGACTCACCTGGCTGGTTGAGGTGAGCTTGGCTCACATGCCTCTCTGTGGGGACAAGGAACGCTATCAGAAAAGTGGCTTCCAAAGGCCCCTCATTTGACCAGTGGGTAGGGGGAGCATTCCTCCGTCTTGGCCCTGGGACTGGTCTTTGGCATCATTGAGCCCTCGGTTTTTCAGATCCCTGAAAAGCAGGCTCCTGGAATGTTTGATTTGGCCCCTTCTCCCCAGGATGTACAGGGAGGGCACCAGACCTTTCAACCAGGCTGGCAAAGACGCTGCAATCCAAGTAAGAACCTCAGAAAAGGAGGCCAGCAAACCAGCCAGCCATATAGGAACAGGGCTCTGACTTGTTTGAGGGCAGTAAGTGGGCTCAAGAAGAGATTGTTCAGCCTGACATCTGGCAAAGGGACTGTGTGCTGTGTTGGAGTCCTGGGGACAAAAGAAAGGGTCACCTGTGACCCAGCCCCTCCCTGGCTACTTCTCATTCTTTCAGGATATGGGGAAATCTCATCCTCTCAACTCTGAAGGACTGTGACACAGTCCCAAGTAGGAAAGCCAGCTCCAAAATGATCTCAAAACCCAGGAGGTCCTGGTACCAGGAAGAGATGCGTGTGTGGTTGAGGAGAGAAAGGTGGACAACAAGCCACTAGGGCAGTCCTCACCCTGCAGAAAAAGAAAGGATGCTGTGCTCACTGGGTCTCTGCCCTGATCTTTGCTACCAAAAATCAAACAATAATTTGGGTGATGCACATAGCAGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCT
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TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCACATAGTAGATGTTCAGTAAGTGGAAAATGGTGATGGTTCTCATCACATCCAAGTTTTCATTCTTGTTTCCTCTTAGTCCCTTGCCTGTCTCCACTCATTCTGGCTGACCACTCTGGGCATTAACCCAGAAGGCAGCAGGCTCGCGTGGCTTCCGCTTCCACCAGCTTGTGATGCCCTCCCCTCTACTTCTTTGTTCATCTTAGGATCAAGTTATTTTTTACTGGGGAAAGAGACAGTGGAGATCCTGTAGTCCAACCCCTTCATTTAAAGCTGAAGAAACTGAGGCCCAGAGAAGTTGAGAGGTGAGACCAAGGCTATGTGGCTTCTTAAATGCAAAATCAGAAGCAGGACTCAGGGCCCCTGCCATGCAGCCCAGTGTCCTTTCCGCCATCCTCTGTGCCTCTGATTTCAGCCCTACTTGGCTTTGAAGATCTACATCAATTTCCCTCTGTTCAGCGACTTCTTCCGCAGTTCCCTCTCCTGCAAGGGGAATGGTTCCTCTCCTCCAAGTTTCCAGCACTAACTACCTGATTCCCTCGGGTAACTGAGCTTTTTTGGGGATTAAGTCTCCCCTCCCCACCTTCATATCCAGCACTGTGAGCTAGGGGCCTTATCCCAACTGCCTGCAAGTGTTCAGGAAAAGCTTTTAGAGCTGACTTGCTCATGGCTTGTGACTCACCTGGCTGGTTGAGGTGAGCTTGGCTCACATGCCTCTCTGTGGGGACAAGGAACGCTATCAGAAAAGTGGCTTCCAAAGGCCCCTCATTTGACCAGTGGGTAGGGGGAGCATTCCTCCGTCTTGGCCCTGGGACTGGTCTTTGGCATCATTGAGCCCTCGGTTTTTCAGATCCCTGAAAAGCAGGCTCCTGGAATGTTTGATTTGGCCCCTTCTCCCCAGGATGTACAGGGAGGGCACCAGACCTTTCAACCAGGCTGGCAAAGACGCTGCAATCCAAGTAAGAACCTCAGAAAAGGAGGCCAGCAAACCAGCCAGCCATATAGGAACAGGGCTCTGACTTGTTTGAGGGCAGTAAGTGGGCTCAAGAAGAGATTGTTCAGCCTGACATCTGGCAAAGGGACTGTGTGCTGTGTTGGAGTCCTGGGGACAAAAGAAAGGGTCACCTGTGACCCAGCCCCTCCCTGGCTACTTCTCATTCTTTCAGGATATGGGGAAATCTCATCCTCTCAACTCTGAAGGACTGTGACACAGTCCCAAGTAGGAAAGCCAGCTCCAAAATGATCTCAAAACCCAGGAGGTCCTGGTACCAGGAAGAGATGCGTGTGTGGTTGAGGAGAGAAAGGTGGACAACAAGCCACTAGGGCAGTCCTCACCCTGCAGAAAAAGAAAGGATGCTGTGCTCACTGGGTCTCTGCCCTGATCTTTGCTACCAAAAATCAAACAATAATTTGGGTGATGCACATAGCAGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCTGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCT
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Task1_train_14377
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This variant affects the gene PAX2 (paired box 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Focal segmental glomerulosclerosis 7
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AGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCTTCACCATCTGCTCAGCAGCCCCGGCTGCCTCACCTGCCACTAGGGCTCACCCTATCGATCCCTGTGGGATGTCAGGAGGAGAAGCAAGAACCGTTTACCTTGGGAAGGTTTTGGAGTTGGGGGAACAGCTGGTCTCTGGCCTGAGGATGAAAGGCCAACCTACCTTGTCCTTACCTGATCCCAATCTGTCTGGAGGTGAGGTAGTGATGTCATGTGCAGCCTAGCCTGGTGTCCTTTCTCTTTAACACCTGCACACCGCCCCCAGTTCAAACCTCACAGGGAGCTGGACATGGGACCCCTCTCTCCTCTTCTTCTCCATGAGTAGAAATGCCACTCCAAATCCCCTGGCCCTCTCCCTCACCTCCCTGAAATGCCTCAAGGTGCAGCCAGGCTGTTAGGAAGGGTGTCAAAGGGAAGGGGGAAGGAAGAGGAGGAGGAGAGAAGAAAAGAAATAAGGGGGAGAGTGGTAGGGATGATCCTGGGACAAAGTGTTTTTCAAATGTCGTGACATTGGGGGTCCCTTGGTGACCATCTGGTTCTCTTCTGATGCGTGAAGCTGGGGCACAGGGCTGGCAGACCCTGAACAACAGAGACACCAGTGTCTCCGGCCTGCGTCCTGCCCCCATTTTCTCATGGTTCCCGCTGGAGAAGTGGTAACCTCCTGGCCTTCAGAGGATTTTAAAGACATCTCCCAGGAAAGAGGCAGAATCCTCAAACAATGAGCATAAAGGGGTGACCATCTATCCCATTAGCCCAGAACAGTCCCAATTTATGCCTGTTGTCTCTGCATCTTGGCCAGTCAGCATCTCAGCATCTCCCTTTTCTCTCAAAAATGTCGTGTTTGGACAATAAATTATGTGGTCATTCCACACATAGACAAACCCTCGGTAGGGGAAGCCTAATGGAGTGAGGAGCAGAGAAAAGGGACAACACTGAGCTTGCCTGGGCCCACAGTCCAAGATCCCCCAGCCTAGGCTGAGGGAAGAGAGTGGGAGAGGCCAGGCCCCCAGCGGAAGGGACAGCGTGGAGGGGAGGCCTAGGCCTGACAAGACAGTGATGACCTGGCGCTGGCCTCCTTCCAGAAGCCCTAATGGCCTCGTTTCACAGGGAAACAGCTTGTCTGGCTCTATTTCTCCTTCTTCCAAAATATCCAAACCGATTTGGCCGCCACGGCCTTTGCCATTCACTAAATTTCATTGTGGTTGTTTTGGCGGCGGCCCCTGATGGGCAGGGGGAGGTTGTGGGAAAGGCCCTAAGTCCCAGTTCTCCCTGAGGCTCCCTGTGCTCAGGCCTTGGCCAAGCTCCTTGGCACCCCAAGTGCTTTGGTAGAATCTGCCTCAAACCCTAAAGGTCTCTCCCTTAACCAGCAGCCCCTGTGTTTTTTAGGGGTGAGAGGCCCAGCAGCCCATGGGAGGCCACAGATACCCCTCTGTACTCTCCCTTTTCAGTCTGAGGCTGTGGCCAAGTATGCCAACCTCGTGGCCAAGTATGCCCTCTGCTGCATGGGCTCCTGTGGGGCAAGAAAGGCTGGGGGTAGGGAGGCACTGGCATGAGGTTGTGGTCACCCAGGGCTGCGCCTGGCTGGCCCAGAACAGGGCGCTCTCCTGAGTGGTTGATCGCCTTCATTGTTTCTAATCAATTCAGTTCAGTGAACCTTTCCTGGACATCAGTTTCAAGAAAGGCTTGGTACTATAGGATCCCAAAGCAGAACAAGATATGATTCTTGTCCTTAAGGAGCTTACATTCTAGTGGGGCATGTTAAACATGTGAGCTCAAAGAGCAGATAGGCCCATCAGATATCCTGTTGCG
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AGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATAGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCTTCACCATCTGCTCAGCAGCCCCGGCTGCCTCACCTGCCACTAGGGCTCACCCTATCGATCCCTGTGGGATGTCAGGAGGAGAAGCAAGAACCGTTTACCTTGGGAAGGTTTTGGAGTTGGGGGAACAGCTGGTCTCTGGCCTGAGGATGAAAGGCCAACCTACCTTGTCCTTACCTGATCCCAATCTGTCTGGAGGTGAGGTAGTGATGTCATGTGCAGCCTAGCCTGGTGTCCTTTCTCTTTAACACCTGCACACCGCCCCCAGTTCAAACCTCACAGGGAGCTGGACATGGGACCCCTCTCTCCTCTTCTTCTCCATGAGTAGAAATGCCACTCCAAATCCCCTGGCCCTCTCCCTCACCTCCCTGAAATGCCTCAAGGTGCAGCCAGGCTGTTAGGAAGGGTGTCAAAGGGAAGGGGGAAGGAAGAGGAGGAGGAGAGAAGAAAAGAAATAAGGGGGAGAGTGGTAGGGATGATCCTGGGACAAAGTGTTTTTCAAATGTCGTGACATTGGGGGTCCCTTGGTGACCATCTGGTTCTCTTCTGATGCGTGAAGCTGGGGCACAGGGCTGGCAGACCCTGAACAACAGAGACACCAGTGTCTCCGGCCTGCGTCCTGCCCCCATTTTCTCATGGTTCCCGCTGGAGAAGTGGTAACCTCCTGGCCTTCAGAGGATTTTAAAGACATCTCCCAGGAAAGAGGCAGAATCCTCAAACAATGAGCATAAAGGGGTGACCATCTATCCCATTAGCCCAGAACAGTCCCAATTTATGCCTGTTGTCTCTGCATCTTGGCCAGTCAGCATCTCAGCATCTCCCTTTTCTCTCAAAAATGTCGTGTTTGGACAATAAATTATGTGGTCATTCCACACATAGACAAACCCTCGGTAGGGGAAGCCTAATGGAGTGAGGAGCAGAGAAAAGGGACAACACTGAGCTTGCCTGGGCCCACAGTCCAAGATCCCCCAGCCTAGGCTGAGGGAAGAGAGTGGGAGAGGCCAGGCCCCCAGCGGAAGGGACAGCGTGGAGGGGAGGCCTAGGCCTGACAAGACAGTGATGACCTGGCGCTGGCCTCCTTCCAGAAGCCCTAATGGCCTCGTTTCACAGGGAAACAGCTTGTCTGGCTCTATTTCTCCTTCTTCCAAAATATCCAAACCGATTTGGCCGCCACGGCCTTTGCCATTCACTAAATTTCATTGTGGTTGTTTTGGCGGCGGCCCCTGATGGGCAGGGGGAGGTTGTGGGAAAGGCCCTAAGTCCCAGTTCTCCCTGAGGCTCCCTGTGCTCAGGCCTTGGCCAAGCTCCTTGGCACCCCAAGTGCTTTGGTAGAATCTGCCTCAAACCCTAAAGGTCTCTCCCTTAACCAGCAGCCCCTGTGTTTTTTAGGGGTGAGAGGCCCAGCAGCCCATGGGAGGCCACAGATACCCCTCTGTACTCTCCCTTTTCAGTCTGAGGCTGTGGCCAAGTATGCCAACCTCGTGGCCAAGTATGCCCTCTGCTGCATGGGCTCCTGTGGGGCAAGAAAGGCTGGGGGTAGGGAGGCACTGGCATGAGGTTGTGGTCACCCAGGGCTGCGCCTGGCTGGCCCAGAACAGGGCGCTCTCCTGAGTGGTTGATCGCCTTCATTGTTTCTAATCAATTCAGTTCAGTGAACCTTTCCTGGACATCAGTTTCAAGAAAGGCTTGGTACTATAGGATCCCAAAGCAGAACAAGATATGATTCTTGTCCTTAAGGAGCTTACATTCTAGTGGGGCATGTTAAACATGTGAGCTCAAAGAGCAGATAGGCCCATCAGATATCCTGTTGCG
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Task1_train_14378
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This alteration occurs within gene SLF2 (SMC5-SMC6 complex localization factor 2) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Atelis syndrome 1
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GAGCCACCGCGTCCAGCCAGTGATATCTTACTGTTTTTATTACATCTCTTTGATCTAGTGATATTGAGCATCTTTGAAAAACTATGTTGGTATATTATTTTGTATATTTGTATCTTATTAATTTGTGGTTTGATTTTTGCATGCAGCCTTTTCCTTTGTGGTTTTTTGGTTTCATGTCATGCTGTATACTAAAAAGACATTTTTTGATAGTTTCAAATGTTATATTTGTCTAATTATAAATGAAAGTTGTAAAAAAAAAAAAAGCAGCATGTTAGAATGTAAAGAGCTCTGACTTTAGAATTAAATTCCACCTTCTCCACGTATCATATATATTAGTTGGGTAGAATATTTAATCTCTCTGAACCTATTTGCTCATATGTGTAATGAGTACTACTTCATAAGGTTATCATTAGTATTAAATGCACATAAAATGCCTTTATTTTTATTTTATCTTATTGTATTTTATTTTTATTTTTGTGGTACAATCATGGCTCACTGCAACCTCCACCTCCTGGTCTCAACCAGTCCTCCACTACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATTGGGTTTTGCCGTCTTGCACAGGCTGGTCTCAAACTCCTAAGCTCAAGGTATCCGCCCGCCTTAGCCTCACAAAGTGCTAGGATTACAGGCATGAACTGCTGCGCCTGGCCTACATAAAACAACTTTATATGTGCCTAGCAAATAATGAATGTTTGTGTTTTCTTTCTTCTTAATATCCTGTCATTTCTCTGCTTTTGACAGATGATGTCAGTTCATACAGACTGTATTGTGTCAGTGCAGATTTTAAGTACATTGATGGAAATAACAATTAGAAATGGTAAGTATATCAACTTATTAAGATTTACCGTGTGTATTATTGGTTGCTATTTACATGGTATCTTTCACATTGCTAAATGTTAGTATATTTGGAAATATACAATACAAAATTATTTTTCTAATCAAAAGTCGTTTTTTTTGGTTTTTTTTTTGAGACAGAATCTTGCTGTCGCCCGGGCTGAAGTGCAGTGACACAATCTCAGCTCACTGCAACTTCCACCTCCCTGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGCCTACAGGCACACACCGCTATACCCAGCTAATTGTTTTGTATTTTAGTAGAGACAGGGTTTCACCTTGCTGCCCAGGCTGGTCTGGAACTCCTGAGCTCGGGCAATTTACCCATCTTGGCCTCCCACAGTGCTAGGATTACAGGCATGAGCCACCTCACCCGACCTCAAAAGTCTTTAATAATGAAATGGAACTTCAGTTAAACAACGAGTATCTGAATTTTCTTACTTGCATTGAGAAAAAGAATATAAGATCTTGCAAGTGGAAACCCTCACTTACTGTTTACCAAATCATGGCTTACTTTGCTTGATAAGTGGAAATGGTTCCAAACTTACTTAGCCAATTAAGTTTAATTGGCTTATTGGTAAGCAACAGTATTATACTGATAATACAGTAAGGCATATTGAAAGCATCCACTGTAAAAGTGTAACATTTGCTTTCTCATCTTTGAGAGCCCTTATAATAAAACAAGCATAGTGGTTTACCTGTTTCATCTGTCCTGGGGATTGGGACTATAAAGGCAATGAAGATGATAAAAAGTCTTCCTGTGTTATTGATAGTTGGGATTTTATCAGTGGTATTTCCAGCCATTTTAAAATGTGTTACTTCCTTCTGAGTTACACCCTTTTATCCATCACTCTCAGATATTTTCTTTATGTCATTTTCTTATTTTATTTGGGAATCTGTAATTCCTATGATCATCCTATAACTGTATTGTTAGCATAAAATTAGCAGCTGTCATTTCTATAAAACCATTGTAATTATTCATGTTTCACCTGCAGACTGTCACCTTGCAAATGTGGGTTTGTAGACCACAGATTTAGAATGAAATGTTTTCTTCTGTTAATTAGATACCTTCAGTGACTCACCAGTTTGGCCATGGATCCCATCATTGTCTGATGTAGCAGCTGTGTTTTTCAATATGGGGATTGATTTTAGATCTTTGTTTCCCCTGGAGAATCTTCAGCCAGACTTTAATGAAGACTATCTAGTGTAAGTTTTCTCATCATAATTAACGCCAAAAATATCATTTCGTACGACTTATATATAATTATAGCTAAAGTTTAATATTTATTTCTGATTTTTAAAAAGATCTCTCAAAGTTGAGATCAATCTTGAATTAGATACATTTTTAACATGTCTTAATCTAAAAGCCATCATCATGTTTAGCAGGCAAATAATAGAAATATTCTCATAAAAGTTTTGTTTTCTTTTTTAAAAGACTTTCCTTTGTTATTTAACATTGTTTTGGTGGAAGTATTGGCCAAAGTAATTAGACAAGAGAAAAAAAACAAGAGATACAAAAATTGGAAAGGAGTTGCTGAAAGATTATTTGTAGATGTGAGTTAATCTAGACATAGAAGCCTAAGACTCAGGTGAAAAACTATGACAAATAACTAAGAAAATTTGGTGTGGGTGTCTGGGTATAAAATTAGTAAAGAGAAATCAATAACCTTCAAATATCTGAAGTGTAACTAGTTAAAAGATACACTGGGCTGGGTGTGGTGGCTTACACCTGTAATCCCAACACTTGGGGAGGCCAAGGCAGGAGAATCACTTGAGGCCGGGAATTGGAAGTTGCAGCGAGTTCACCACAGTACTGCAGCCTGGGTGACAGAGTGAGACCTTGTCTTTAAAAAAAAAAAGGTGGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACGTTAGCCAGGTGTAGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGTGGCGGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTAAAAAAAAAAAAGGAAACTGGTTACAGACAAAGTATTAATTTCAAGTCAATAAGAAAAAGATCAATACCTATTAGAAAAATGGGCAGAGGAAATGAATAGACTGATCACAGAAAAGGAAGTAAAAATGGAAAGGTAAAGGAAATAAAAGAGGAAAAAGTTGAATGTTTTCACTTAAACATTATGAAAATTCTCTTTCTACTCCATATAGGATCCCTGGTTACTCAGATGTAATCTGTATCTGAAAATATGTTGGATAGCAACATTTCAGCTAGAGACTATGTTTCATCACTTTAAATAGGAAAAATAGTTTACCCAGCCCATCCAAAAATCCCAACTATTTCCCCTAAATATTACAAGAATGTTCTTAAACACTTACATTTTAAAAGTTACCACAAGTTTCTGCATAATATAAACATTTAACATACCTCCTACTTTATTATTTAACATTTAGTGAACTCAGTAGTGTGTAGTAATTTTGTATGTTGTATACAACAATTTGAATTTTTCTTACTTTAGTGAGCATGTACAGTAGTGGAAATAAACTGGTAGTGGCTATAGTCACTATTGTTGTATACTGGTGAGTAAAGATGGGCACAAGCTTAACAAAAGTGATCTGGTGAAGGAATGAGTGCTGTGTAACAAAATGCCTGTTTAAACAACATGAGCATGAGTCTGGAAATGTGTGTGTGTGTGTTTGTTTGAGACAGGGTCTTGCTTTGTTGCGCAGGCTGGAGTGCAGTGACACAATCTCAGCTCACAGCAACCTCCACCTCCCAGCCTCAAGTGATCTTCCCACCTCAGCCTCCTGAGTAGCTGAGACCACAGGTACTCACCACCACGCCCAGCTAATATTTTTTTATTTTTTGTGGAGACGAAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACCCCTGAGCTCAGGCGATCCGCCGGCCTCAGCTTCCCAAACTGCTGGGATTACAGGCGTGAGTCACTGTGCCTGGCTTGAACTTGTTAAGATACAACCCCACTCACTGTTCTCTTTCTTTTCTTCTC
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GAGCCACCGCGTCCAGCCAGTGATATCTTACTGTTTTTATTACATCTCTTTGATCTAGTGATATTGAGCATCTTTGAAAAACTATGTTGGTATATTATTTTGTATATTTGTATCTTATTAATTTGTGGTTTGATTTTTGCATGCAGCCTTTTCCTTTGTGGTTTTTTGGTTTCATGTCATGCTGTATACTAAAAAGACATTTTTTGATAGTTTCAAATGTTATATTTGTCTAATTATAAATGAAAGTTGTAAAAAAAAAAAAAGCAGCATGTTAGAATGTAAAGAGCTCTGACTTTAGAATTAAATTCCACCTTCTCCACGTATCATATATATTAGTTGGGTAGAATATTTAATCTCTCTGAACCTATTTGCTCATATGTGTAATGAGTACTACTTCATAAGGTTATCATTAGTATTAAATGCACATAAAATGCCTTTATTTTTATTTTATCTTATTGTATTTTATTTTTATTTTTGTGGTACAATCATGGCTCACTGCAACCTCCACCTCCTGGTCTCAACCAGTCCTCCACTACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATTGGGTTTTGCCGTCTTGCACAGGCTGGTCTCAAACTCCTAAGCTCAAGGTATCCGCCCGCCTTAGCCTCACAAAGTGCTAGGATTACAGGCATGAACTGCTGCGCCTGGCCTACATAAAACAACTTTATATGTGCCTAGCAAATAATGAATGTTTGTGTTTTCTTTCTTCTTAATATCCTGTCATTTCTCTGCTTTTGACAGATGATGTCAGTTCATACAGACTGTATTGTGTCAGTGCAGATTTTAAGTACATTGATGGAAATAACAATTAGAAATGGTAAGTATATCAACTTATTAAGATTTACCGTGTGTATTATTGGTTGCTATTTACATGGTATCTTTCACATTGCTAAATGTTAGTATATTTGGAAATATACAATACAAAATTATTTTTCTAATCAAAAGTCGTTTTTTTTGGTTTTTTTTTTGAGACAGAATCTTGCTGTCGCCCGGGCTGAAGTGCAGTGACACAATCTCAGCTCACTGCAACTTCCACCTCCCTGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGCCTACAGGCACACACCGCTATACCCAGCTAATTGTTTTGTATTTTAGTAGAGACAGGGTTTCACCTTGCTGCCCAGGCTGGTCTGGAACTCCTGAGCTCGGGCAATTTACCCATCTTGGCCTCCCACAGTGCTAGGATTACAGGCATGAGCCACCTCACCCGACCTCAAAAGTCTTTAATAATGAAATGGAACTTCAGTTAAACAACGAGTATCTGAATTTTCTTACTTGCATTGAGAAAAAGAATATAAGATCTTGCAAGTGGAAACCCTCACTTACTGTTTACCAAATCATGGCTTACTTTGCTTGATAAGTGGAAATGGTTCCAAACTTACTTAGCCAATTAAGTTTAATTGGCTTATTGGTAAGCAACAGTATTATACTGATAATACAGTAAGGCATATTGAAAGCATCCACTGTAAAAGTGTAACATTTGCTTTCTCATCTTTGAGAGCCCTTATAATAAAACAAGCATAGTGGTTTACCTGTTTCATCTGTCCTGGGGATTGGGACTATAAAGGCAATGAAGATGATAAAAAGTCTTCCTGTGTTATTGATAGTTGGGATTTTATCAGTGGTATTTCCAGCCATTTTAAAATGTGTTACTTCCTTCTGAGTTACACCCTTTTATCCATCACTCTCAGATATTTTCTTTATGTCATTTTCTTATTTTATTTGGGAATCTGTAATTCCTATGATCATCCTATAACTGTATTGTTAGCATAAAATTAGCAGCTGTCATTTCTATAAAACCATTGTAATTATTCATGTTTCACCTGCAGACTGTCACCTTGCAAATGTGGGTTTGTAGACCACAGATTTAGAATGAAATGTTTTCTTCTGTTAATTAGATACCTTCAGTGACTCACCAGTTTGGCCATGGATCCCATCATTGTCTGATGTAGCAGCTGTGTTTTTCATTATGGGGATTGATTTTAGATCTTTGTTTCCCCTGGAGAATCTTCAGCCAGACTTTAATGAAGACTATCTAGTGTAAGTTTTCTCATCATAATTAACGCCAAAAATATCATTTCGTACGACTTATATATAATTATAGCTAAAGTTTAATATTTATTTCTGATTTTTAAAAAGATCTCTCAAAGTTGAGATCAATCTTGAATTAGATACATTTTTAACATGTCTTAATCTAAAAGCCATCATCATGTTTAGCAGGCAAATAATAGAAATATTCTCATAAAAGTTTTGTTTTCTTTTTTAAAAGACTTTCCTTTGTTATTTAACATTGTTTTGGTGGAAGTATTGGCCAAAGTAATTAGACAAGAGAAAAAAAACAAGAGATACAAAAATTGGAAAGGAGTTGCTGAAAGATTATTTGTAGATGTGAGTTAATCTAGACATAGAAGCCTAAGACTCAGGTGAAAAACTATGACAAATAACTAAGAAAATTTGGTGTGGGTGTCTGGGTATAAAATTAGTAAAGAGAAATCAATAACCTTCAAATATCTGAAGTGTAACTAGTTAAAAGATACACTGGGCTGGGTGTGGTGGCTTACACCTGTAATCCCAACACTTGGGGAGGCCAAGGCAGGAGAATCACTTGAGGCCGGGAATTGGAAGTTGCAGCGAGTTCACCACAGTACTGCAGCCTGGGTGACAGAGTGAGACCTTGTCTTTAAAAAAAAAAAGGTGGGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACGTTAGCCAGGTGTAGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGTGGCGGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTAAAAAAAAAAAAGGAAACTGGTTACAGACAAAGTATTAATTTCAAGTCAATAAGAAAAAGATCAATACCTATTAGAAAAATGGGCAGAGGAAATGAATAGACTGATCACAGAAAAGGAAGTAAAAATGGAAAGGTAAAGGAAATAAAAGAGGAAAAAGTTGAATGTTTTCACTTAAACATTATGAAAATTCTCTTTCTACTCCATATAGGATCCCTGGTTACTCAGATGTAATCTGTATCTGAAAATATGTTGGATAGCAACATTTCAGCTAGAGACTATGTTTCATCACTTTAAATAGGAAAAATAGTTTACCCAGCCCATCCAAAAATCCCAACTATTTCCCCTAAATATTACAAGAATGTTCTTAAACACTTACATTTTAAAAGTTACCACAAGTTTCTGCATAATATAAACATTTAACATACCTCCTACTTTATTATTTAACATTTAGTGAACTCAGTAGTGTGTAGTAATTTTGTATGTTGTATACAACAATTTGAATTTTTCTTACTTTAGTGAGCATGTACAGTAGTGGAAATAAACTGGTAGTGGCTATAGTCACTATTGTTGTATACTGGTGAGTAAAGATGGGCACAAGCTTAACAAAAGTGATCTGGTGAAGGAATGAGTGCTGTGTAACAAAATGCCTGTTTAAACAACATGAGCATGAGTCTGGAAATGTGTGTGTGTGTGTTTGTTTGAGACAGGGTCTTGCTTTGTTGCGCAGGCTGGAGTGCAGTGACACAATCTCAGCTCACAGCAACCTCCACCTCCCAGCCTCAAGTGATCTTCCCACCTCAGCCTCCTGAGTAGCTGAGACCACAGGTACTCACCACCACGCCCAGCTAATATTTTTTTATTTTTTGTGGAGACGAAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACCCCTGAGCTCAGGCGATCCGCCGGCCTCAGCTTCCCAAACTGCTGGGATTACAGGCGTGAGTCACTGTGCCTGGCTTGAACTTGTTAAGATACAACCCCACTCACTGTTCTCTTTCTTTTCTTCTC
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Task1_train_14379
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A mutation on Chromosome 10 affecting TWNK (twinkle mtDNA helicase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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TCTGGGCACGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTC
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TCTGGGCACGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTTGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTC
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Task1_train_14380
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This variant affects the gene TWNK (twinkle mtDNA helicase) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; See cases
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CGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCC
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CGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCACCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCC
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Task1_train_14381
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The gene TWNK (twinkle mtDNA helicase) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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AGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAG
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AGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCGAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAG
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Task1_train_14382
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Here is a mutation in TWNK (twinkle mtDNA helicase) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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ATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGT
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ATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCCTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGT
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Task1_train_14383
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This is a variant in TWNK (twinkle mtDNA helicase), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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TCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACA
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TCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATATTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACA
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Task1_train_14384
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This variant lies on Chromosome 10 and affects the gene TWNK (twinkle mtDNA helicase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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CACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAA
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CACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTGCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAA
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Task1_train_14385
|
An alteration has been detected in TWNK (twinkle mtDNA helicase) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Mitochondrial disease
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TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTA
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TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACCGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTA
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Task1_train_14386
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With a mutation on Chromosome 10 in gene TWNK (twinkle mtDNA helicase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTA
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TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACCGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTA
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Task1_train_14387
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Here is a variant affecting TWNK (twinkle mtDNA helicase) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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ACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACT
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ACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGGGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACT
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Task1_train_14388
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A variant was discovered in gene TWNK (twinkle mtDNA helicase), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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CATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG
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CATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCGATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG
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Task1_train_14389
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A variant was discovered in gene TWNK (twinkle mtDNA helicase), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Infantile onset spinocerebellar ataxia
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AGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATC
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AGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGATACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATC
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Task1_train_14390
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Consider this mutation in TWNK (twinkle mtDNA helicase) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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GTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGC
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GTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACATTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGC
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Task1_train_14391
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Gene TWNK (twinkle mtDNA helicase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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GGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACA
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GGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGGCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACA
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Task1_train_14392
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This is a variant in TWNK (twinkle mtDNA helicase), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Mitochondrial disease
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CGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCT
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CGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCCGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCT
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Task1_train_14393
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The following genetic variant occurs in TWNK (twinkle mtDNA helicase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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GCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAA
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GCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGCGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAA
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Task1_train_14394
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An alteration has been detected in TWNK (twinkle mtDNA helicase) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
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CGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAA
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CGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGCCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAA
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Task1_train_14395
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This alteration occurs within gene TWNK (twinkle mtDNA helicase) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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GCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCATCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAATATATATATATAATATATATATATTTAAAAATTAGCTGGGCATGGTAGCATGCACCTTTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGACTGCAGTGAGCCGTGCTCACACCACTGCACTCCACTCCAACCTGGGCAGCAGAGTGAGACCCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCGCCTAATTTTTTGTATTTTTTTAGTAGATACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCTGAGACCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTCTCCTTCATGAGATGTGACATTTAGACTGAGACCTAAAAGAGAAGAAGCTGAGGTTGAGTGGGGTGGCCCGCTGTGGAGAAGGAGAGGGAACAGCACAGGCAGCGTCTGAAACAGTAGCAAGCTTGTCAGGGAACTGAAAGATTTGAGTGGCCCCAGCATCGTGGTCAGTAGTTCAAAGAGCTTTGGTCATGGGGGGAAGTACTTTTCCCTCTCCCATTCTTTCTCTTTTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTATAGGTGCATGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACATCGTGATCCACTCGACTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCATTGTACCCAGCCCCTCTCCCCATTCTTATCACTCCTCCCTGCCCTGTCAGCCCCCCTTTCTGCTTTGCTCATGTCCTCTTACTCCTGCTTTCCTCCTTCTGCCCCCTGTTCCCCAGGCAAGCCAGGAAGCAGACAATGTTCTGATCCTGCAGGACAGGAAGCTGGTAACCGGGCCAGGGAAACGGTATCTGCAGGTGTCCAAGAACCGCTTTGATGGAGATGTAGGTGTCTTCCCGCTTGAGTTCAACAAGAACTCCCTCACCTTCTCCATTCCACCAAAGAACAAGGCCCGGCTCAAGAAGATCAAGGATGACACTGGACCAGTGGCCAAAAAGCCCTCTTCTGGCAAAAAGGGGGCTACGACACAGAACTCTGAGATTTGCTCAGGCCAGGCCCCCACTCCCGACCAGCCAGACACCTCCAAGCGTTCAAAGTGAAGGCCGTGCAGAGCTGGTCACTGAAATGAGCCTGATAGGATAGGCTGGAGCATAAAACTCTGCAAGGGCTCCTCTATCCTGTGGTCCTGAGCTGTGTGCCCTTCTCAGTCTGAGGGGCCTAACCTAGAGCAGGTTTCCATAGTGAGAAAATTCAATGTAGCAGACTACTGAGAAACTACTGTGTTGCTCAGGCTTTGTTTGAGGTCCTGTATATACAGCACTGAAAAGAGAGATAAAGTCCCTGCCTGCATGCATTCTGGCGGAAGAGACAAGCAAGCAATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATGCTGTAAAGAAAATAGAAATGCGATAGAGTGCTGGCAGGCTAGTGTAGATAAGTGGTCTGAAAAGGTGTCTCTGAGCCGAGGGCATGTGAGCTGGGGCCTAAACAACTAGAAGGAGAGAGCCACGTGAACATCCGGCGAAGGGGACCCAGGCAGAGAGAAAAGGAAATCCAAGCCCTGAGGTAGGAATGAGCAGGTCAGATTCAAGGCAGTGAGGTCAGGCCGCATGAACCTGGAGGGGAATCGGGGACTTCATGCGAAACTCCAGCCTAGGCTTTCAAAGTCAAAGGGTGATACAGTGGGTACCAAGCTCCTCTGCTCCCCACTTTGTAGAGCCTAGCATGAGGTGGCATGTACTAGAATTGGATCCTAGGTGCTTAGCCCTGCAATATCAGGGCCTCACTGGTGGGAGCTGCCTCGGGCTGGGTTGCTTGGTCATAGAGCCATAGAAGGAAGCTGTCAGCCCGGAGTGCCTGCCACCTAGACACTGATGCCATTGTGTGCTGCCTCAAGACTGCTGGAGTCAGGACATTTTATAGAGCCTTTTCCAGTTTTACTAAAAAATTTTTCCATTGCCTTTGTTTCTGTGCTTTTTCTTATTCATCCACCAGGTGTCTCCCCAGTCCGTAGCTGAATTTCCCTTTCGGGATTGGGAATGGACGGGTCCCCTCCCACTGCTTGCAGCCTTTGAGCGGTGGGCTTCCAAGGAAGCAGGGACATTAAAGGGCCTTCACACCCCACCTTCCATTTACATCTCTTCTTGGCCTAGGGAAGACAAGATGATCTGTCCTCATACCTAACTTCCCTGAGGATCTCGAGTGATTCCTGGCACAGGTACTCATCACTGGGCCACATGAGCCCAGTGCCCTGCCTGACTGGCCATTCCTCTGTGATGTGAGCCACTCACCTCTCAAGTGGACTTAGACTCAACATATTCTGTCCACCCCCATCCATCTCCCTCCTGTACCCTCTCCGTGTTTCTCATATGCTAATGCGTGCCAGAACTCCTGGGGACTTGTGAAAAATGCAGAAACTAGGCCCCATTCTCCCCCCATCCTCCACCACGTACATTTCTCATTCTGGATTTGAGGACGGGTACAGTAATCCTCATTTTTAACAAGCCGTGGAGGAGACTGTAAAATAGGTGACCCAGAGGGACTGTCAGAAGTATTCCTAAATGATGACACCTTCTCATCTCTCGTCCTCTGATATCCCAAAGTCCCAGTTTCCCTTTGGATTTGCCTGAAAGAGTCGTGAGAATGCAATATGTTCTGAGGGGGCTGGGGAGAATCCTTTTGTAAGGGTTGGGGGAAGGTTTCCTGCTCCGTTTGGAAGCAGGGCTGCCTTGTCAGGCTCTTCCTTTCAACCTATGAAGGGGCTTCTGGGGCCGATGGAGGGGTCTGTGGTCTCTGGAGTGTGAGAACTCTGGT
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GCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCATCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAATATATATATATAATATATATATATTTAAAAATTAGCTGGGCATGGTAGCATGCACCTTTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGACTGCAGTGAGCCGTGCTCACACCACTGCACTCCACTCCAACCTGGGCAGCAGAGTGAGACCCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCGCCTAATTTTTTGTATTTTTTTAGTAGATACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCTGAGACCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATGGTCTCCTTCATGAGATGTGACATTTAGACTGAGACCTAAAAGAGAAGAAGCTGAGGTTGAGTGGGGTGGCCCGCTGTGGAGAAGGAGAGGGAACAGCACAGGCAGCGTCTGAAACAGTAGCAAGCTTGTCAGGGAACTGAAAGATTTGAGTGGCCCCAGCATCGTGGTCAGTAGTTCAAAGAGCTTTGGTCATGGGGGGAAGTACTTTTCCCTCTCCCATTCTTTCTCTTTTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTATAGGTGCATGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACATCGTGATCCACTCGACTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCATTGTACCCAGCCCCTCTCCCCATTCTTATCACTCCTCCCTGCCCTGTCAGCCCCCCTTTCTGCTTTGCTCATGTCCTCTTACTCCTGCTTTCCTCCTTCTGCCCCCTGTTCCCCAGGCAAGCCAGGAAGCAGACAGTGTTCTGATCCTGCAGGACAGGAAGCTGGTAACCGGGCCAGGGAAACGGTATCTGCAGGTGTCCAAGAACCGCTTTGATGGAGATGTAGGTGTCTTCCCGCTTGAGTTCAACAAGAACTCCCTCACCTTCTCCATTCCACCAAAGAACAAGGCCCGGCTCAAGAAGATCAAGGATGACACTGGACCAGTGGCCAAAAAGCCCTCTTCTGGCAAAAAGGGGGCTACGACACAGAACTCTGAGATTTGCTCAGGCCAGGCCCCCACTCCCGACCAGCCAGACACCTCCAAGCGTTCAAAGTGAAGGCCGTGCAGAGCTGGTCACTGAAATGAGCCTGATAGGATAGGCTGGAGCATAAAACTCTGCAAGGGCTCCTCTATCCTGTGGTCCTGAGCTGTGTGCCCTTCTCAGTCTGAGGGGCCTAACCTAGAGCAGGTTTCCATAGTGAGAAAATTCAATGTAGCAGACTACTGAGAAACTACTGTGTTGCTCAGGCTTTGTTTGAGGTCCTGTATATACAGCACTGAAAAGAGAGATAAAGTCCCTGCCTGCATGCATTCTGGCGGAAGAGACAAGCAAGCAATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATGCTGTAAAGAAAATAGAAATGCGATAGAGTGCTGGCAGGCTAGTGTAGATAAGTGGTCTGAAAAGGTGTCTCTGAGCCGAGGGCATGTGAGCTGGGGCCTAAACAACTAGAAGGAGAGAGCCACGTGAACATCCGGCGAAGGGGACCCAGGCAGAGAGAAAAGGAAATCCAAGCCCTGAGGTAGGAATGAGCAGGTCAGATTCAAGGCAGTGAGGTCAGGCCGCATGAACCTGGAGGGGAATCGGGGACTTCATGCGAAACTCCAGCCTAGGCTTTCAAAGTCAAAGGGTGATACAGTGGGTACCAAGCTCCTCTGCTCCCCACTTTGTAGAGCCTAGCATGAGGTGGCATGTACTAGAATTGGATCCTAGGTGCTTAGCCCTGCAATATCAGGGCCTCACTGGTGGGAGCTGCCTCGGGCTGGGTTGCTTGGTCATAGAGCCATAGAAGGAAGCTGTCAGCCCGGAGTGCCTGCCACCTAGACACTGATGCCATTGTGTGCTGCCTCAAGACTGCTGGAGTCAGGACATTTTATAGAGCCTTTTCCAGTTTTACTAAAAAATTTTTCCATTGCCTTTGTTTCTGTGCTTTTTCTTATTCATCCACCAGGTGTCTCCCCAGTCCGTAGCTGAATTTCCCTTTCGGGATTGGGAATGGACGGGTCCCCTCCCACTGCTTGCAGCCTTTGAGCGGTGGGCTTCCAAGGAAGCAGGGACATTAAAGGGCCTTCACACCCCACCTTCCATTTACATCTCTTCTTGGCCTAGGGAAGACAAGATGATCTGTCCTCATACCTAACTTCCCTGAGGATCTCGAGTGATTCCTGGCACAGGTACTCATCACTGGGCCACATGAGCCCAGTGCCCTGCCTGACTGGCCATTCCTCTGTGATGTGAGCCACTCACCTCTCAAGTGGACTTAGACTCAACATATTCTGTCCACCCCCATCCATCTCCCTCCTGTACCCTCTCCGTGTTTCTCATATGCTAATGCGTGCCAGAACTCCTGGGGACTTGTGAAAAATGCAGAAACTAGGCCCCATTCTCCCCCCATCCTCCACCACGTACATTTCTCATTCTGGATTTGAGGACGGGTACAGTAATCCTCATTTTTAACAAGCCGTGGAGGAGACTGTAAAATAGGTGACCCAGAGGGACTGTCAGAAGTATTCCTAAATGATGACACCTTCTCATCTCTCGTCCTCTGATATCCCAAAGTCCCAGTTTCCCTTTGGATTTGCCTGAAAGAGTCGTGAGAATGCAATATGTTCTGAGGGGGCTGGGGAGAATCCTTTTGTAAGGGTTGGGGGAAGGTTTCCTGCTCCGTTTGGAAGCAGGGCTGCCTTGTCAGGCTCTTCCTTTCAACCTATGAAGGGGCTTCTGGGGCCGATGGAGGGGTCTGTGGTCTCTGGAGTGTGAGAACTCTGGT
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Task1_train_14396
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This gene mutation involves PDZD7 (PDZ domain containing 7) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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TCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTTCCACCTCAGCCTCTTGAATGGCTGGGACTACAGGTACATGCCCACCATGCCCAGTTTTTTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTTTCACTCCTGCTGCCCAGGCTAGAGTGCAATGGTATGATCTCGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCTCAAGTAGCTGGGATTACAGGCATGCTCCACCACGCTCGGTTAATTTTTTATTTTTAGTACAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGAAGGGGTCTTGCTATGTTGCCCAGGCTAGGCCCCATTTCTAATCCTTACAGCACCCCTGTAGAGAGGTGGTGTTTTGCCTCTGGGTTTCACAGCAGGAGCAGCGGCAATGTGGCAGCAGAACCACTGGGATCTGGGAGAGCAGAGCTATTGGAGGAGGGCAGGGGAAAGATGCAGCCTCTCCTTATTTTGAGGTCAGGCCTTTGGATCCCCTGCGTTTCCTGAGCCAGCGAGCAGGAGGAACAGAAGCCTCTCCTGCCAGTGGGTTTTGGGTGTTGGTAGGGTTGGGGTGGGCTGGGGCAAGGCCAGGGCTAGGATGAGGGAGTTGCTGCTCACCACGTGGTCTTCTCCTTGGAGAACTTGATGCCCGGCACACGGCCCATGCGCCGAACCATCATGTGCAGGCGGCTGCTGCTGGTCAGCACCTTTACGGCGCTACCCATGGTGGTGCTCTCCAGGCTCAGCCCATTCACCTCCGTGATCTTGTCCCCCACGCACAGGCCAGCCCGCTCTGCACCACAGGATGGGAGTGGCTGGCATGGGTCCCCAGGGTGGGGCTGAGCCTCCCCCATCAGATGGAGCTCCCTGGGGTCAAACTGAGCTTCTCAATCAGAGTGAGGATTGTCAGAGCAGGGGCTGAGTGTTCCCAGTGCCTAGGGATCTGTCCCTTAAACCATTCTGACTTGAGGGTTGGCCCTGTCTCCCCATCAATCAGGCCCTCCAGAGCTGGGGACTCTTCCGTCTGTCCCTGACAGCAGCATCCCCTGCCATTCACTGAGATTGGAGTCACATCCTAAGCGTGGACTTCAGCCTGGGGGTTCTGCTTACCTGCACTGCTGCCTTCCTCCACTTTGCTGACGAAGATGCCCAGGCCATGCTCTGAGCCCCCGCGCACGCTGAAGCCCAGCCTCCCTGCTGGACTCTTCTCCACCCGGACTGAATGGATGATGTCACTTTCATCACTGTTGGCTGTGAGGACAGGGATTTAGGGATGCCCCCATGTTCATTGTGGGCACAGAGGGCCCCTGGGTTCCCCAACTTGGGGCCTGCAAAGGCTAGGTTGCTGGGCACAGTCACACAGGCACGTAGGGGCCTAAATGCAGTGGGGCAGGTCAGCCCATTTCTAAGGCCCCTCTGGGTGATTTTTATGTTATTTTTTAAAGAAACAGGGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCACAAACTCCTGGGCTCAAGTAACCCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCACACACCACTGTGCCTGGATTAATTTTAAATTTTTTGTAGAGGCAGGGTCTCACTTTGTTGCCCAGACTGGCCCAAATCCCTGGCCTCAAGCAATTCTCCCACCTTGGCCTTCCAAAGTGTTGGGATTATAGGTATGAGCCGCATATCCTGCCCGCTCTGAGTGATTTTGAGACCATGGGCCAGGAAGGTGTGAAAGAAGGTGAGATCAGCGGGACAGGACTCTATGCTAAAGACACCATTCTCTAGCCAGGTGTAGTGGTGTATGCCTGTGGTCCCAGCTACACGGAAGGCTGAGGCAGGAGCCCAGGAGGTCGAGGCTGCAGTGACCTGTGTTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAAAAAAAGATACTGTTCTCCTTCCTTCCTAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATCAGTGCTTTCTGAGCTTCACATGCCCATGGGCCTGGGGTAAGCCAAATTAATAAACAATTCTGATACTCCCAGGGTCAGATGGACAGACAAGAAGGTTCAGGATTCTGTTCTATGGGGGATGGTTGAGGGTGTCTGGCTTCATCAGCTTGCAGCATAAATTAGTATATTAGCTCTATCTTCAAATGCTTGTAGAGCTACCCTGTGGAAGGCATTAGATGTTTTCATCTGTGTAAACAGAACCTGCCTGCAGTACTCTTGCTCACACAGTGGAATTAGACAGAGGCAGATTTTGTAAGGAAAAACTTTCTAAAACATTCTGCTGTTGGAAATAGAATGGGTTTTCTTTCTTTTTTTTCCCCCGAGACAAAGTCTTGCTCTGTCGCTGAGGCTAGAGTGCAGTGATGCAATCTCGGTTCACTGCAACTTCGGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGCATTGGGATTACAGGAGTGAGCCACCACCCCAGCCTTGAAATGGAAGGGATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATTGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCTAAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCGGCCAATGGAAGAGATTTTCTAAGACAGATAGTAAGCCTCCCATCTTTGGAGGCATGCAAGCTGGGACCCAGCAAATCTCTGTCTGGGATGTTATGGAATCCCTGAGGGTCCTCCCATCTGTTAGACTCTGTGATTCTGGAAGTCAGAGTTCTAGGAACTACCTGGCTACAAAGGGAAAGAAACCCCAGACCA
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TCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTTCCACCTCAGCCTCTTGAATGGCTGGGACTACAGGTACATGCCCACCATGCCCAGTTTTTTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTTTCACTCCTGCTGCCCAGGCTAGAGTGCAATGGTATGATCTCGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCTCAAGTAGCTGGGATTACAGGCATGCTCCACCACGCTCGGTTAATTTTTTATTTTTAGTACAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGAAGGGGTCTTGCTATGTTGCCCAGGCTAGGCCCCATTTCTAATCCTTACAGCACCCCTGTAGAGAGGTGGTGTTTTGCCTCTGGGTTTCACAGCAGGAGCAGCGGCAATGTGGCAGCAGAACCACTGGGATCTGGGAGAGCAGAGCTATTGGAGGAGGGCAGGGGAAAGATGCAGCCTCTCCTTATTTTGAGGTCAGGCCTTTGGATCCCCTGCGTTTCCTGAGCCAGCGAGCAGGAGGAACAGAAGCCTCTCCTGCCAGTGGGTTTTGGGTGTTGGTAGGGTTGGGGTGGGCTGGGGCAAGGCCAGGGCTAGGATGAGGGAGTTGCTGCTCACCACGTGGTCTTCTCCTTGGAGAACTTGATGCCCGGCACACGGCCCATGCGCCGAACCATCATGTGCAGGCGGCTGCTGCTGGTCAGCACCTTTACGGCGCTACCCATGGTGGTGCTCTCCAGGCTCAGCCCATTCACCTCCGTGATCTTGTCCCCCACGCACAGGCCAGCCCGCTCTGCACCACAGGATGGGAGTGGCTGGCATGGGTCCCCAGGGTGGGGCTGAGCCTCCCCCATCAGATGGAGCTCCCTGGGGTCAAACTGAGCTTCTCAATCAGAGTGAGGATTGTCAGAGCAGGGGCTGAGTGTTCCCAGTGCCTAGGGATCTGTCCCTTAAACCATTCTGACTTGAGGGTTGGCCCTGTCTCCCCATCAATCAGGCCCTCCAGAGCTGGGGACTCTTCCGTCTGTCCCTGACAGCAGCATCCCCTGCCATTCACTGAGATTGGAGTCACATCCTAAGCGTGGACTTCAGCCTGGGGGTTCTGCTTACCTGCACTGCTGCCTTCCTCCACTTTGCTGACGAAGATGCCCAGGCCATGCTCTGAGCCCCTGCGCACGCTGAAGCCCAGCCTCCCTGCTGGACTCTTCTCCACCCGGACTGAATGGATGATGTCACTTTCATCACTGTTGGCTGTGAGGACAGGGATTTAGGGATGCCCCCATGTTCATTGTGGGCACAGAGGGCCCCTGGGTTCCCCAACTTGGGGCCTGCAAAGGCTAGGTTGCTGGGCACAGTCACACAGGCACGTAGGGGCCTAAATGCAGTGGGGCAGGTCAGCCCATTTCTAAGGCCCCTCTGGGTGATTTTTATGTTATTTTTTAAAGAAACAGGGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCACAAACTCCTGGGCTCAAGTAACCCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCACACACCACTGTGCCTGGATTAATTTTAAATTTTTTGTAGAGGCAGGGTCTCACTTTGTTGCCCAGACTGGCCCAAATCCCTGGCCTCAAGCAATTCTCCCACCTTGGCCTTCCAAAGTGTTGGGATTATAGGTATGAGCCGCATATCCTGCCCGCTCTGAGTGATTTTGAGACCATGGGCCAGGAAGGTGTGAAAGAAGGTGAGATCAGCGGGACAGGACTCTATGCTAAAGACACCATTCTCTAGCCAGGTGTAGTGGTGTATGCCTGTGGTCCCAGCTACACGGAAGGCTGAGGCAGGAGCCCAGGAGGTCGAGGCTGCAGTGACCTGTGTTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAAAAAAAGATACTGTTCTCCTTCCTTCCTAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATCAGTGCTTTCTGAGCTTCACATGCCCATGGGCCTGGGGTAAGCCAAATTAATAAACAATTCTGATACTCCCAGGGTCAGATGGACAGACAAGAAGGTTCAGGATTCTGTTCTATGGGGGATGGTTGAGGGTGTCTGGCTTCATCAGCTTGCAGCATAAATTAGTATATTAGCTCTATCTTCAAATGCTTGTAGAGCTACCCTGTGGAAGGCATTAGATGTTTTCATCTGTGTAAACAGAACCTGCCTGCAGTACTCTTGCTCACACAGTGGAATTAGACAGAGGCAGATTTTGTAAGGAAAAACTTTCTAAAACATTCTGCTGTTGGAAATAGAATGGGTTTTCTTTCTTTTTTTTCCCCCGAGACAAAGTCTTGCTCTGTCGCTGAGGCTAGAGTGCAGTGATGCAATCTCGGTTCACTGCAACTTCGGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGCATTGGGATTACAGGAGTGAGCCACCACCCCAGCCTTGAAATGGAAGGGATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATTGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCTAAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCGGCCAATGGAAGAGATTTTCTAAGACAGATAGTAAGCCTCCCATCTTTGGAGGCATGCAAGCTGGGACCCAGCAAATCTCTGTCTGGGATGTTATGGAATCCCTGAGGGTCCTCCCATCTGTTAGACTCTGTGATTCTGGAAGTCAGAGTTCTAGGAACTACCTGGCTACAAAGGGAAAGAAACCCCAGACCA
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Task1_train_14397
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The gene PDZD7 (PDZ domain containing 7) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hearing loss, autosomal recessive 57
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ACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTTCCACCTCAGCCTCTTGAATGGCTGGGACTACAGGTACATGCCCACCATGCCCAGTTTTTTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTTTCACTCCTGCTGCCCAGGCTAGAGTGCAATGGTATGATCTCGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCTCAAGTAGCTGGGATTACAGGCATGCTCCACCACGCTCGGTTAATTTTTTATTTTTAGTACAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGAAGGGGTCTTGCTATGTTGCCCAGGCTAGGCCCCATTTCTAATCCTTACAGCACCCCTGTAGAGAGGTGGTGTTTTGCCTCTGGGTTTCACAGCAGGAGCAGCGGCAATGTGGCAGCAGAACCACTGGGATCTGGGAGAGCAGAGCTATTGGAGGAGGGCAGGGGAAAGATGCAGCCTCTCCTTATTTTGAGGTCAGGCCTTTGGATCCCCTGCGTTTCCTGAGCCAGCGAGCAGGAGGAACAGAAGCCTCTCCTGCCAGTGGGTTTTGGGTGTTGGTAGGGTTGGGGTGGGCTGGGGCAAGGCCAGGGCTAGGATGAGGGAGTTGCTGCTCACCACGTGGTCTTCTCCTTGGAGAACTTGATGCCCGGCACACGGCCCATGCGCCGAACCATCATGTGCAGGCGGCTGCTGCTGGTCAGCACCTTTACGGCGCTACCCATGGTGGTGCTCTCCAGGCTCAGCCCATTCACCTCCGTGATCTTGTCCCCCACGCACAGGCCAGCCCGCTCTGCACCACAGGATGGGAGTGGCTGGCATGGGTCCCCAGGGTGGGGCTGAGCCTCCCCCATCAGATGGAGCTCCCTGGGGTCAAACTGAGCTTCTCAATCAGAGTGAGGATTGTCAGAGCAGGGGCTGAGTGTTCCCAGTGCCTAGGGATCTGTCCCTTAAACCATTCTGACTTGAGGGTTGGCCCTGTCTCCCCATCAATCAGGCCCTCCAGAGCTGGGGACTCTTCCGTCTGTCCCTGACAGCAGCATCCCCTGCCATTCACTGAGATTGGAGTCACATCCTAAGCGTGGACTTCAGCCTGGGGGTTCTGCTTACCTGCACTGCTGCCTTCCTCCACTTTGCTGACGAAGATGCCCAGGCCATGCTCTGAGCCCCCGCGCACGCTGAAGCCCAGCCTCCCTGCTGGACTCTTCTCCACCCGGACTGAATGGATGATGTCACTTTCATCACTGTTGGCTGTGAGGACAGGGATTTAGGGATGCCCCCATGTTCATTGTGGGCACAGAGGGCCCCTGGGTTCCCCAACTTGGGGCCTGCAAAGGCTAGGTTGCTGGGCACAGTCACACAGGCACGTAGGGGCCTAAATGCAGTGGGGCAGGTCAGCCCATTTCTAAGGCCCCTCTGGGTGATTTTTATGTTATTTTTTAAAGAAACAGGGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCACAAACTCCTGGGCTCAAGTAACCCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCACACACCACTGTGCCTGGATTAATTTTAAATTTTTTGTAGAGGCAGGGTCTCACTTTGTTGCCCAGACTGGCCCAAATCCCTGGCCTCAAGCAATTCTCCCACCTTGGCCTTCCAAAGTGTTGGGATTATAGGTATGAGCCGCATATCCTGCCCGCTCTGAGTGATTTTGAGACCATGGGCCAGGAAGGTGTGAAAGAAGGTGAGATCAGCGGGACAGGACTCTATGCTAAAGACACCATTCTCTAGCCAGGTGTAGTGGTGTATGCCTGTGGTCCCAGCTACACGGAAGGCTGAGGCAGGAGCCCAGGAGGTCGAGGCTGCAGTGACCTGTGTTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAAAAAAAGATACTGTTCTCCTTCCTTCCTAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATCAGTGCTTTCTGAGCTTCACATGCCCATGGGCCTGGGGTAAGCCAAATTAATAAACAATTCTGATACTCCCAGGGTCAGATGGACAGACAAGAAGGTTCAGGATTCTGTTCTATGGGGGATGGTTGAGGGTGTCTGGCTTCATCAGCTTGCAGCATAAATTAGTATATTAGCTCTATCTTCAAATGCTTGTAGAGCTACCCTGTGGAAGGCATTAGATGTTTTCATCTGTGTAAACAGAACCTGCCTGCAGTACTCTTGCTCACACAGTGGAATTAGACAGAGGCAGATTTTGTAAGGAAAAACTTTCTAAAACATTCTGCTGTTGGAAATAGAATGGGTTTTCTTTCTTTTTTTTCCCCCGAGACAAAGTCTTGCTCTGTCGCTGAGGCTAGAGTGCAGTGATGCAATCTCGGTTCACTGCAACTTCGGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGCATTGGGATTACAGGAGTGAGCCACCACCCCAGCCTTGAAATGGAAGGGATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATTGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCTAAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCGGCCAATGGAAGAGATTTTCTAAGACAGATAGTAAGCCTCCCATCTTTGGAGGCATGCAAGCTGGGACCCAGCAAATCTCTGTCTGGGATGTTATGGAATCCCTGAGGGTCCTCCCATCTGTTAGACTCTGTGATTCTGGAAGTCAGAGTTCTAGGAACTACCTGGCTACAAAGGGAAAGAAACCCCAGACCACACCACACTGCAATACGTATGTGCCCAAGGCGGCCCTCTCCATCACGCTGGGGAAA
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ACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTTCCACCTCAGCCTCTTGAATGGCTGGGACTACAGGTACATGCCCACCATGCCCAGTTTTTTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTTTCACTCCTGCTGCCCAGGCTAGAGTGCAATGGTATGATCTCGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCTCAAGTAGCTGGGATTACAGGCATGCTCCACCACGCTCGGTTAATTTTTTATTTTTAGTACAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGAAGGGGTCTTGCTATGTTGCCCAGGCTAGGCCCCATTTCTAATCCTTACAGCACCCCTGTAGAGAGGTGGTGTTTTGCCTCTGGGTTTCACAGCAGGAGCAGCGGCAATGTGGCAGCAGAACCACTGGGATCTGGGAGAGCAGAGCTATTGGAGGAGGGCAGGGGAAAGATGCAGCCTCTCCTTATTTTGAGGTCAGGCCTTTGGATCCCCTGCGTTTCCTGAGCCAGCGAGCAGGAGGAACAGAAGCCTCTCCTGCCAGTGGGTTTTGGGTGTTGGTAGGGTTGGGGTGGGCTGGGGCAAGGCCAGGGCTAGGATGAGGGAGTTGCTGCTCACCACGTGGTCTTCTCCTTGGAGAACTTGATGCCCGGCACACGGCCCATGCGCCGAACCATCATGTGCAGGCGGCTGCTGCTGGTCAGCACCTTTACGGCGCTACCCATGGTGGTGCTCTCCAGGCTCAGCCCATTCACCTCCGTGATCTTGTCCCCCACGCACAGGCCAGCCCGCTCTGCACCACAGGATGGGAGTGGCTGGCATGGGTCCCCAGGGTGGGGCTGAGCCTCCCCCATCAGATGGAGCTCCCTGGGGTCAAACTGAGCTTCTCAATCAGAGTGAGGATTGTCAGAGCAGGGGCTGAGTGTTCCCAGTGCCTAGGGATCTGTCCCTTAAACCATTCTGACTTGAGGGTTGGCCCTGTCTCCCCATCAATCAGGCCCTCCAGAGCTGGGGACTCTTCCGTCTGTCCCTGACAGCAGCATCCCCTGCCATTCACTGAGATTGGAGTCACATCCTAAGCGTGGACTTCAGCCTGGGGGTTCTGCTTACCTGCACTGCTGCCTTCCTCCACTTTGCTGACGAAGATGCCCAGGCCATGCTCTGAGCCCCCGCGCACGCTGAAGCCCAGCCTCCCTGCTGGACTCTTCTCCACCCGGACTGAATGGGTGATGTCACTTTCATCACTGTTGGCTGTGAGGACAGGGATTTAGGGATGCCCCCATGTTCATTGTGGGCACAGAGGGCCCCTGGGTTCCCCAACTTGGGGCCTGCAAAGGCTAGGTTGCTGGGCACAGTCACACAGGCACGTAGGGGCCTAAATGCAGTGGGGCAGGTCAGCCCATTTCTAAGGCCCCTCTGGGTGATTTTTATGTTATTTTTTAAAGAAACAGGGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCACAAACTCCTGGGCTCAAGTAACCCTCCTGCCTCAGCCTTCCAAGTAGCTAGGACTACAGGCACACACCACTGTGCCTGGATTAATTTTAAATTTTTTGTAGAGGCAGGGTCTCACTTTGTTGCCCAGACTGGCCCAAATCCCTGGCCTCAAGCAATTCTCCCACCTTGGCCTTCCAAAGTGTTGGGATTATAGGTATGAGCCGCATATCCTGCCCGCTCTGAGTGATTTTGAGACCATGGGCCAGGAAGGTGTGAAAGAAGGTGAGATCAGCGGGACAGGACTCTATGCTAAAGACACCATTCTCTAGCCAGGTGTAGTGGTGTATGCCTGTGGTCCCAGCTACACGGAAGGCTGAGGCAGGAGCCCAGGAGGTCGAGGCTGCAGTGACCTGTGTTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAAAAAAAGATACTGTTCTCCTTCCTTCCTAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATCAGTGCTTTCTGAGCTTCACATGCCCATGGGCCTGGGGTAAGCCAAATTAATAAACAATTCTGATACTCCCAGGGTCAGATGGACAGACAAGAAGGTTCAGGATTCTGTTCTATGGGGGATGGTTGAGGGTGTCTGGCTTCATCAGCTTGCAGCATAAATTAGTATATTAGCTCTATCTTCAAATGCTTGTAGAGCTACCCTGTGGAAGGCATTAGATGTTTTCATCTGTGTAAACAGAACCTGCCTGCAGTACTCTTGCTCACACAGTGGAATTAGACAGAGGCAGATTTTGTAAGGAAAAACTTTCTAAAACATTCTGCTGTTGGAAATAGAATGGGTTTTCTTTCTTTTTTTTCCCCCGAGACAAAGTCTTGCTCTGTCGCTGAGGCTAGAGTGCAGTGATGCAATCTCGGTTCACTGCAACTTCGGCCTCCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGCATTGGGATTACAGGAGTGAGCCACCACCCCAGCCTTGAAATGGAAGGGATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATTGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCTAAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCGGCCAATGGAAGAGATTTTCTAAGACAGATAGTAAGCCTCCCATCTTTGGAGGCATGCAAGCTGGGACCCAGCAAATCTCTGTCTGGGATGTTATGGAATCCCTGAGGGTCCTCCCATCTGTTAGACTCTGTGATTCTGGAAGTCAGAGTTCTAGGAACTACCTGGCTACAAAGGGAAAGAAACCCCAGACCACACCACACTGCAATACGTATGTGCCCAAGGCGGCCCTCTCCATCACGCTGGGGAAA
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Task1_train_14398
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Consider this mutation in FGF8 (fibroblast growth factor 8) on Chromosome 10. Is this a benign change or a disease-causing variant?
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Pathogenic; Hypogonadotropic hypogonadism 6 with or without anosmia
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ATTAAATCCATGATTACAGCTCTAGCCCTAGCACATCCATTATTTCTGGCCCTGAGGTGGCCTGGGGAAGTGTTAGCAATGACCTCTGTAAAGTGCTAGGAGGTACACATCTGAGAGCTCCAAGGACTAGCTAAGAGCCTCTTCTTGCCCCTTTCCCTGCTTCTGTCCTTGCAGGAAAACCCCTCAAGTGACAGTGATGGGGATGGTTGACAGGCAGGTGTCTTTAGGCTGGAGGGAGGCTGTGGTCAGAGCTGGCACCTGGTCATCTGCGTCTCCCAGCCGCCCACCAGCTGGGGCAAGGTTGGAGGGAGGGGCTGACCCCGGCAGGACTCACTCTCCAGCACACATTTTTAATATGCAAGTTAAATAAATATTTCAATCATTTAATAGCCACCAGTCTGATACCCACTTCTAAGAGGACTGCCCTATGTCACAGTCCTTTCCTCCCTGCCCCACCTGGGGGTGCAGTGGAGTCCCTGGCTGCCCAGCCAACTGGCCCTGGAGGTACTGGGGCCTCAGCAGCACAGGCTAGAGAAAGCCCCCCACCCCCGCAAACCCCCAGCCGGAATCCCAGTCTAGGCCACTAATGGAGCTTTCTGAGAGTTAAGAAGACAGACACCACAGCCAAGTGGAATACAAAAATAGAGCCTCTCTTTTGTTTTAAAAAAAAAAAAAAAAAAAAAAACAGCAAAAACCCAACAGCAAACAATATCAACAACCGGAACCCAGGGCTCCCCCAGCACCTCCCCAGCCTGCAGAGCAGCGCACAGCTCATCTTGCTTGAGTTTTGGGTGCCCTACAGGATGAGCCTCTCTGCGGTCTGGCATTGTGGGGAGGGCCAGGCAGCACCTATCGGGGCTCGGGGGCCCAAGTCCTCTGGCTGCCGCGCAGGCTGCGCGTGAAGGGCGGGTAGTTGAGGAACTCGAAGCGCAGGCTCTGCTCGGTGGTGTGGTGGCCCCGGGGCAGCCGCTTCATGAAGTGGACCTCACGCTGGTGCTGCCGCGTCTTGGAGCCCTTGCGGGGCCGGCCCTTGCGGGTGAAGGCCATGTACCAGCCCTCGTACTTGGCATTCTGCAGCGCTGTGTAGTTGTTCTCCAGCACAATCTCCGTGAAGACGCAGTCCTTGCCTTTGCCGTTGCTCTGCAGGTAGGGGAGCCAGACACCACGTTACAGAGCCCCCCCAGCAGAGGCAGAGGGCGAGCGGCCCCAGACAGCAGGTGGGCACCCCAGCAGATGGCGAGGTGGGCAGGAGCCGCAGCCCCACCCCCTGCCTGGGCACCCGCTCTCTAATCCCTCACAACTCGCAGCCCACCCGGCAACTTCCTGTCCTCCCAGGCAGCAGTGACACATGGTTGTCTACGGAGGGGCTGGGCCCCAACGCAGAAAGACAGAGAGAGGGGCCCAGAGCCTGGCCTGCTCTGGCCTCCTGCCCACCAGTCTGGCCACCCGTCTCCCCACCTGCCCCTCTCACCCCCCCAGGACTTCGGTTCCCTGGCCCCAGGGCAGCCACCCTATGGGGGAGGGGAGGCCTGGGAGAAGATGCTAAGACCCCAGCCCCAGAAGCCCAGGAAGTGGGGAGCTCGAGGCTGGAGAGGAGCCGTGACTAATGGAGCCATTTCAGAGCTCGGCCGAGGGGCTGGGCCTGCGGCTTACTGAACATTCCAAATGCTGGTACCATGTAATTGGACATAATAGCAAAGCAATTTGGCGATTTGTTAAAAAGATATATGGAATTTACCAACCACCACCCCCCAGCCCCTTCCCTAGCCTTCATTCTTCCTCCTTCGCCTTTTATAGTTTTCATCTCTCAAACAGCTTCCTTCTCCCTCACTCCTGCACCCAATCGTGAGGTAACCCCAAGATGGCCCTGTGGCCTTCTGCCTACCTTGTTGGGATCAGAGCCCAGGACTGTCTTGGAGGAGTCCAGCCAGCCCAAGCCACTCCCTAGGTCCCGCGGACCCCACCTGCCTGCTGGGGCCTCACCTTGGCGATCAGCTTCCCCTTCTTGTTCATGCAGATGTAGAGGCCCGTCTCGGCTCCTCGGACTCGAACTCTGCTTCCAAAGGTGTCCGTCTCCACGATGAGCTTTGCTGTCAGAGAAGGTAGCAGGATGGCTATTGGCAGATCCCTGACCCCAGCTGGCCCACACACTTGTCACAGCCCAGCAGCAACTGCTCCAAAGACCAGGAACCCAAAACATGGACTCCAGCTCCAGCCCAGCTACTAACATGCTGTGCAACCCAGAGAAAGGGCTTTTCTGGACCTCGGGCCCCACCCCTGGGTTTACAGAGGGCAGTGGACGGGATTATGGTTTTCAAACTGGGTTCTCAAGAGAGGTCTTGGGACTATCAAATTGAAAAGGCTGAAGTGCCATTCCTTCCACCCTCTTTTTAAACCAGACAGTGATGTCTCTTAGATTGAGGATCTAAGTAAAATTTAATTGAATCAGAGTTCCATAGCTAATCAAAAGATCTCCGAGGATCCTTCCAACTCCAAATATTATGTGTGCGTGTCTCACAGGTCATTACAAACACTTGGGTGAAGGGGTGACCTCCAGTCCCAAGGCCAAAGATGAAAGCATTGTCTCCTGTTTCTGCCACTTTGGGTTCTAACTCACAGCTTTGGCCACCCCCAGCCCCTCAACATCACCAGGCTCTGCTCTGCTGAGAAGGTGCTAGGGATGGGGACAGCTCTCCCTAAACACACAGCCCAAAGCAGGCTGCTTTCCCAGAACCTCAGACACCTGCCAGGAGGATCCTGCCTCTTCCCTGTGGCTTCCCAGTCACCAGGGTCCCCAGCCCAGTGTCTAGAAATCAACAACTCAATTGTCTTTTCTCTTTCAGCCTCATCACAGCTGGGCTTCTCAGCCCAGTGACCAAATAGCTTCTGTGGGTGAGGAGGAGGGAGAATCCTGCCTGCTGGCCTCTTAGACTGGAGGCCAGGAGGCAGGGCTGAATTCTATGCCTCCTTTCCCATTCCCCTCCCCTTAGACAGCCAACTTGCCACAGAAGCCTGTCCTGTTCACCTCTCTGTGCAATCATCTCTTATAGGCTGTCCTCAAGAAAGTAGTGAGGGTGACTTCACTGTTTAGGAAGGGACAGAAGGCGCTGGCTCTCCTGCCGTCCCTGCCGCAGAGCCCAGCCTCTCCCCTCCCTGAGAAAGCAGTTCTTGGACTTAGCCTGCATTGACATATGGCACCTCCTCTGTCCCTGAAACCCATGGCAGGGGTTTGGGGCATCGAGGTCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCGGTAAAGAAGCCATTGAGACCTCTCTGCTATTCTCCCCGGACTACTCCTGTCCTGGCTGAACACCCTGAGCCTCTGTTCTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGGCAGGCCGCCCCCACCCCCACCCCAGAAAGCCCGCTCTCTCCCATGTCGGTTGAATCTGCTCCGATCTGGGGAGCTGGGGCCGCAGTTTACGGCAGCTCTCCCGACCGGGCTTTTGGAAAGCTTAACATTTTCAAAC
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ATTAAATCCATGATTACAGCTCTAGCCCTAGCACATCCATTATTTCTGGCCCTGAGGTGGCCTGGGGAAGTGTTAGCAATGACCTCTGTAAAGTGCTAGGAGGTACACATCTGAGAGCTCCAAGGACTAGCTAAGAGCCTCTTCTTGCCCCTTTCCCTGCTTCTGTCCTTGCAGGAAAACCCCTCAAGTGACAGTGATGGGGATGGTTGACAGGCAGGTGTCTTTAGGCTGGAGGGAGGCTGTGGTCAGAGCTGGCACCTGGTCATCTGCGTCTCCCAGCCGCCCACCAGCTGGGGCAAGGTTGGAGGGAGGGGCTGACCCCGGCAGGACTCACTCTCCAGCACACATTTTTAATATGCAAGTTAAATAAATATTTCAATCATTTAATAGCCACCAGTCTGATACCCACTTCTAAGAGGACTGCCCTATGTCACAGTCCTTTCCTCCCTGCCCCACCTGGGGGTGCAGTGGAGTCCCTGGCTGCCCAGCCAACTGGCCCTGGAGGTACTGGGGCCTCAGCAGCACAGGCTAGAGAAAGCCCCCCACCCCCGCAAACCCCCAGCCGGAATCCCAGTCTAGGCCACTAATGGAGCTTTCTGAGAGTTAAGAAGACAGACACCACAGCCAAGTGGAATACAAAAATAGAGCCTCTCTTTTGTTTTAAAAAAAAAAAAAAAAAAAAAAACAGCAAAAACCCAACAGCAAACAATATCAACAACCGGAACCCAGGGCTCCCCCAGCACCTCCCCAGCCTGCAGAGCAGCGCACAGCTCATCTTGCTTGAGTTTTGGGTGCCCTACAGGATGAGCCTCTCTGCGGTCTGGCATTGTGGGGAGGGCCAGGCAGCACCTATCGGGGCTCGGGGGCCCAAGTCCTCTGGCTGCCGCGCAGGCTGCGCGTGAAGGGCGGGTAGTTGAGGAACTCGAAGCGCAGGCTCTGCTCGGTGGTGTGGTGGCCCCGGGGCAGCCGCTTCATGAAGTGGACCTCACGCTGGTGCTGCCGCGTCTTGGAGCCCTTGCGGGGCCGGCCCTTGCGGGTGAAGGCCATGTACCAGCCCTCGTACTTGGCATTCTGCAGCGCTGTGTAGTTGTTCTCCAGCACAATCTCCGTGAAGACGCAGTCCTTGCCTTTGCCGTTGCTCTGCAGGTAGGGGAGCCAGACACCACGTTACAGAGCCCCCCCAGCAGAGGCAGAGGGCGAGCGGCCCCAGACAGCAGGTGGGCACCCCAGCAGATGGCGAGGTGGGCAGGAGCCGCAGCCCCACCCCCTGCCTGGGCACCCGCTCTCTAATCCCTCACAACTCGCAGCCCACCCGGCAACTTCCTGTCCTCCCAGGCAGCAGTGACACATGGTTGTCTACGGAGGGGCTGGGCCCCAACGCAGAAAGACAGAGAGAGGGGCCCAGAGCCTGGCCTGCTCTGGCCTCCTGCCCACCAGTCTGGCCACCCGTCTCCCCACCTGCCCCTCTCACCCCCCCAGGACTTCGGTTCCCTGGCCCCAGGGCAGCCACCCTATGGGGGAGGGGAGGCCTGGGAGAAGATGCTAAGACCCCAGCCCCAGAAGCCCAGGAAGTGGGGAGCTCGAGGCTGGAGAGGAGCCGTGACTAATGGAGCCATTTCAGAGCTCGGCCGAGGGGCTGGGCCTGCGGCTTACTGAACATTCCAAATGCTGGTACCATGTAATTGGACATAATAGCAAAGCAATTTGGCGATTTGTTAAAAAGATATATGGAATTTACCAACCACCACCCCCCAGCCCCTTCCCTAGCCTTCATTCTTCCTCCTTCGCCTTTTATAGTTTTCATCTCTCAAACAGCTTCCTTCTCCCTCACTCCTGCACCCAATCGTGAGGTAACCCCAAGATGGCCCTGTGGCCTTCTGCCTACCTTGTTGGGATCAGAGCCCAGGACTGTCTTGGAGGAGTCCAGCCAGCCCAAGCCACTCCCTAGGTCCCGCGGACCCCACCTGCCTGCTGGGGCCTCACCTTGGCGATCAGCTTCCCCTTCTTGTTCATGCAGATGTAGAGGCCCGTCTCGGCTCCTCGGACTCCAACTCTGCTTCCAAAGGTGTCCGTCTCCACGATGAGCTTTGCTGTCAGAGAAGGTAGCAGGATGGCTATTGGCAGATCCCTGACCCCAGCTGGCCCACACACTTGTCACAGCCCAGCAGCAACTGCTCCAAAGACCAGGAACCCAAAACATGGACTCCAGCTCCAGCCCAGCTACTAACATGCTGTGCAACCCAGAGAAAGGGCTTTTCTGGACCTCGGGCCCCACCCCTGGGTTTACAGAGGGCAGTGGACGGGATTATGGTTTTCAAACTGGGTTCTCAAGAGAGGTCTTGGGACTATCAAATTGAAAAGGCTGAAGTGCCATTCCTTCCACCCTCTTTTTAAACCAGACAGTGATGTCTCTTAGATTGAGGATCTAAGTAAAATTTAATTGAATCAGAGTTCCATAGCTAATCAAAAGATCTCCGAGGATCCTTCCAACTCCAAATATTATGTGTGCGTGTCTCACAGGTCATTACAAACACTTGGGTGAAGGGGTGACCTCCAGTCCCAAGGCCAAAGATGAAAGCATTGTCTCCTGTTTCTGCCACTTTGGGTTCTAACTCACAGCTTTGGCCACCCCCAGCCCCTCAACATCACCAGGCTCTGCTCTGCTGAGAAGGTGCTAGGGATGGGGACAGCTCTCCCTAAACACACAGCCCAAAGCAGGCTGCTTTCCCAGAACCTCAGACACCTGCCAGGAGGATCCTGCCTCTTCCCTGTGGCTTCCCAGTCACCAGGGTCCCCAGCCCAGTGTCTAGAAATCAACAACTCAATTGTCTTTTCTCTTTCAGCCTCATCACAGCTGGGCTTCTCAGCCCAGTGACCAAATAGCTTCTGTGGGTGAGGAGGAGGGAGAATCCTGCCTGCTGGCCTCTTAGACTGGAGGCCAGGAGGCAGGGCTGAATTCTATGCCTCCTTTCCCATTCCCCTCCCCTTAGACAGCCAACTTGCCACAGAAGCCTGTCCTGTTCACCTCTCTGTGCAATCATCTCTTATAGGCTGTCCTCAAGAAAGTAGTGAGGGTGACTTCACTGTTTAGGAAGGGACAGAAGGCGCTGGCTCTCCTGCCGTCCCTGCCGCAGAGCCCAGCCTCTCCCCTCCCTGAGAAAGCAGTTCTTGGACTTAGCCTGCATTGACATATGGCACCTCCTCTGTCCCTGAAACCCATGGCAGGGGTTTGGGGCATCGAGGTCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCGGTAAAGAAGCCATTGAGACCTCTCTGCTATTCTCCCCGGACTACTCCTGTCCTGGCTGAACACCCTGAGCCTCTGTTCTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGGCAGGCCGCCCCCACCCCCACCCCAGAAAGCCCGCTCTCTCCCATGTCGGTTGAATCTGCTCCGATCTGGGGAGCTGGGGCCGCAGTTTACGGCAGCTCTCCCGACCGGGCTTTTGGAAAGCTTAACATTTTCAAAC
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Task1_train_14399
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This variant lies on Chromosome 10 and affects the gene FGF8 (fibroblast growth factor 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Hypogonadotropic hypogonadism 6 with or without anosmia
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TCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCGGTAAAGAAGCCATTGAGACCTCTCTGCTATTCTCCCCGGACTACTCCTGTCCTGGCTGAACACCCTGAGCCTCTGTTCTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGGCAGGCCGCCCCCACCCCCACCCCAGAAAGCCCGCTCTCTCCCATGTCGGTTGAATCTGCTCCGATCTGGGGAGCTGGGGCCGCAGTTTACGGCAGCTCTCCCGACCGGGCTTTTGGAAAGCTTAACATTTTCAAACCTATTCTTCCACCCCAGTGACAGATTTATCCCAGGAAAATTATGTCTCCTCCAGCTTTGAAGGGAAGTCAGCTACGTCGATGCAGAAAAAATGCAGCGAGACATACTCGATCCCCCAAACTGGCTCAAGAAGAGGAGAAAGTATTCAGGAAATGTTAAAAAAGGTGAAAGTAAGAAGAGTTTTAATCGCTCTGCCAGACGCAGGGGTCTCTCCAGAGATTCAGAGAGAACAATCTTGAACCTCTTTTTTAACATTTACAGACTTGCAACTCCTTTCAAACTCCACATCTGAAAAAAAGCTCGTTCTTTTTCTGTTTTATATCATTCTTCATTTTTCTTCTTAGCTCTTAAAATGCCTCACCTTTTTATTACATTTTAATAGAGTCTTCCCCTCTCCTTTCATGCTTGTTTAACGTGGTCATTATTTAAAGGTTTTTAAACTCACAATAATCGCTCTCTAAAAACAACACCAGCCGCCCAGAGGGCTTGCTTTTCTCTTGGTACATCCAGGACTCTGGAAATTGGCCCCGTTTCAAGGCAGGAATATTGAATGTTTTAGAAATCAATCAGTCCTCAGCCTCTCTGCCGGCAGTAGCTCTCCGCACTTGCCACCCCACAGGGAGCCGGGAGCCCTGCCCCAGCCGCCTGGGTTCCCCAGGGAATGGAGCAGGGAGAGCCCCCTTCCAAGCCCAGTTTCCACGTGTAAATTGACCCATCCGATTAAAGTATTTAAGGGTTCCCAGCAACCTCCTTTTCCAACTGGGAGAGTTGAGGGGATTTCTCTCCCTTCTCTTTCCCACTCTCCTTTTGTGGGCCCTGGCGACATATCCTCTTTCAAGCGCTTGCCTTAAACCTAGGCCCCCTCCCCCTGAACCCCCTGCCTCCACCTGCAGCTGGGGAGGAGTGTATGAAGGGGGGAGGTGTAAAGGGAGATTCCTAGATTCATTCATTTGCTGGGCAGGGAAGGGGGCACCTGTGGCCAAGTACTCCCCGAGGCCCCTTCCCTAGCCCTCTCTTCCCCAGCTGACCCTCAAGACACCTTTCTGCCTTAACTCCTTCCCTTCTGAGCTGGGGACCCTGCAGGCCCCCGGCCAGTGCAGTTGGGACTGGTGGTCCAGGCGCCGCGCATCCCACAAGCTACCTTCAGCGCGCCTTACCGAAGGGGTCGCCGTCCTCTGCCATGGCGTTGATGCGCTTGTTGGCCAGGACCTGCACGTGCTTCCCGCTGGTGCGGCTGTAGAGTTGGTAGGTCCGGATGAGGCGGCGGCTGAGCTGATCCGTCACCAGGCTCTGCTCCCTCACATGCTGTGTAAAATTAGGTGAGGACTGAACAGTTACCTTTAGGAAATTGAAAAATACACAATACACCATTATAATGCTACTCCGCCCAGGGGCCCGAGTGGCCCCATCACCCTGCGTCCCCCTCACTGCCCCAAGCCGCCAGCAGGTGCTGGGGGTTCCCCCAACATGCCAGCCCAGGCCACCATCCCCCACCCACGCAAGTCGGGCAGACCCAGCCCAGGATGAACGAGCCCCAGGGAGAAGCTGGACCCACCTGTTGGGAGACACCCTGGGGCTCCCGGCCAGCCCGGAACAGGGAAGCGAGCTCCCTGCCCAGCGCAGGGCCCCTGCCCGGGCCTTCCTAGAGGAGCAGGGCGCTTTTAAGTAGGGAGGCAGCCCTCCCCGACCCCTGACATTTATAAAGACAAATTTACGGAGCAAATGTTGAGAGTGCAGGGAACCTGGGCACCCGATCATTGGGCCAAATCGGCCACAAGCCTCCCCCGAGGGGCGCTGAGAGGGTCTCTGCTGCAGTCACCCGGCTTCCCCTGGCATCGAACATCCATCCCCTGGCCGCGGCTGCCCCCTTCCTCGGCGGCTGGGTGTTCCCTATGCCCCCAGCCGGCGAGGATGCATGGGGGACAGTGCTGGGCTCCGAGACCTTCGTTTCTATCCTGGCCACTCACTCGCTGTGTGACCTCAGGAGGGGTGCTACCTCTCTGTGCCTCAGCTCCCTCCTCGGGGTGGCTCGGGGCTGGGTTTCTAAGGTGCCCTCAGCCCTCCCGCGCCGGCCGCAGAGTCAGTCCCGGTGCCCCCGACCGGCGCTGCCCACCCGGGTCTCACACCGGCGCGCCCGGCCCCCGCCTCCGCGCACCCCTCCTCACCTGGGCTTGGAGGCAGAGGACCAGCAAGTGCAACAGCCTGTGGGAGACAAAAGCGGGCGGGAGAGAGAGGCGCGGGTGAGGCGAGGGGCGCGGGGGGCGGGTGGCGGGGCAGGGCGGCGCGGTACTCACAGGCAGCTCAGCGCGGAGCGGGGGCTGCCCATGGCGCGCGGCCCCGGGGCACCGAGAGCCCGGCGGGTCACGCCGTCCCGCGGGCCGCCGCGGGAGGACGCGCTGAGCAGGGCGCGAGCGGAGAGGGTGCGGGTGCGGGAGGCCGGCGGCGATCACGACGCGGCTCCGCGGGTCCCGTGGAACGTCGTGCTCGCCGCGCCGCACCGAATCGCTGTGCGCCGCTGCCGGAGCCGGTGGCCGCTGGCTGCTCGGGAGCCGGAGCGGGCGGGAGGGTCACGGGCTGGCGGGGTGGGTGGGGAGGTGGGAGGGCGGGGAGGGGTGGGGGCGGGGGGCGCCGCACCGGGCGCGAGGGGGGAGCGCGGGGCGGGCGGCGGGAGCCCGCAGCCCCCGGCTGGGAACTGGGGCCTGGATGCAGCCCGGGGCGGGGGCGGGGCGGCCGGGGAGGGGCGGCCGACGGGTTCGGGATTGAGGGTCTGGGCTAGGGGAGGGGTCTGGGGACCCGCGGGAGGGGCGGGGGCGGCCGGTCTGGGCGCCTCCCCCTATCCCCGGCCTGTCCCCTCGCGCGCTCCCCGGTCCCGGACGCGCGGGGATGGGGGCGCCTAGGGCTGCAAACTCTGCGGGCCGGGAGACCCCGAGCCTGGGCTTCCCCGACCGCCTGGAGCGCCCGAGTCTGGCGGGTCTGGGTCTCCGCCTCCGGGCCCAGCCGCTTCCGCCGCCGGCTACGCAGTGGTCTCCGAGCCACCTACTGTGTGTCCCGCCGGGCCCCTGGGAGCGGCCGCTAACCATGCAGCGAATGGCTGCGCACCCGGCCCTCGCGCAGTGCGTGCCGGTGCCACCCGGACCCCGCTCCCCTGTTTCGGCCGCGTGCCCCGTCCTGTCGGTCTCTCCAGTCTCCTTCACTCTCCCGAGGAGGCCCTGGGAGCCAGAAATGCCTCCCCCTCCCCCCATCC
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TCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCGGTAAAGAAGCCATTGAGACCTCTCTGCTATTCTCCCCGGACTACTCCTGTCCTGGCTGAACACCCTGAGCCTCTGTTCTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGGCAGGCCGCCCCCACCCCCACCCCAGAAAGCCCGCTCTCTCCCATGTCGGTTGAATCTGCTCCGATCTGGGGAGCTGGGGCCGCAGTTTACGGCAGCTCTCCCGACCGGGCTTTTGGAAAGCTTAACATTTTCAAACCTATTCTTCCACCCCAGTGACAGATTTATCCCAGGAAAATTATGTCTCCTCCAGCTTTGAAGGGAAGTCAGCTACGTCGATGCAGAAAAAATGCAGCGAGACATACTCGATCCCCCAAACTGGCTCAAGAAGAGGAGAAAGTATTCAGGAAATGTTAAAAAAGGTGAAAGTAAGAAGAGTTTTAATCGCTCTGCCAGACGCAGGGGTCTCTCCAGAGATTCAGAGAGAACAATCTTGAACCTCTTTTTTAACATTTACAGACTTGCAACTCCTTTCAAACTCCACATCTGAAAAAAAGCTCGTTCTTTTTCTGTTTTATATCATTCTTCATTTTTCTTCTTAGCTCTTAAAATGCCTCACCTTTTTATTACATTTTAATAGAGTCTTCCCCTCTCCTTTCATGCTTGTTTAACGTGGTCATTATTTAAAGGTTTTTAAACTCACAATAATCGCTCTCTAAAAACAACACCAGCCGCCCAGAGGGCTTGCTTTTCTCTTGGTACATCCAGGACTCTGGAAATTGGCCCCGTTTCAAGGCAGGAATATTGAATGTTTTAGAAATCAATCAGTCCTCAGCCTCTCTGCCGGCAGTAGCTCTCCGCACTTGCCACCCCACAGGGAGCCGGGAGCCCTGCCCCAGCCGCCTGGGTTCCCCAGGGAATGGAGCAGGGAGAGCCCCCTTCCAAGCCCAGTTTCCACGTGTAAATTGACCCATCCGATTAAAGTATTTAAGGGTTCCCAGCAACCTCCTTTTCCAACTGGGAGAGTTGAGGGGATTTCTCTCCCTTCTCTTTCCCACTCTCCTTTTGTGGGCCCTGGCGACATATCCTCTTTCAAGCGCTTGCCTTAAACCTAGGCCCCCTCCCCCTGAACCCCCTGCCTCCACCTGCAGCTGGGGAGGAGTGTATGAAGGGGGGAGGTGTAAAGGGAGATTCCTAGATTCATTCATTTGCTGGGCAGGGAAGGGGGCACCTGTGGCCAAGTACTCCCCGAGGCCCCTTCCCTAGCCCTCTCTTCCCCAGCTGACCCTCAAGACACCTTTCTGCCTTAACTCCTTCCCTTCTGAGCTGGGGACCCTGCAGGCCCCCGGCCAGTGCAGTTGGGACTGGTGGTCCAGGCGCCGCGCATCCCACAAGCTACCTTCAGCGCGCCTTACCGAAGGGGTCGCCGTCCTCTGCCATGGCGTTGATGCGCTCGTTGGCCAGGACCTGCACGTGCTTCCCGCTGGTGCGGCTGTAGAGTTGGTAGGTCCGGATGAGGCGGCGGCTGAGCTGATCCGTCACCAGGCTCTGCTCCCTCACATGCTGTGTAAAATTAGGTGAGGACTGAACAGTTACCTTTAGGAAATTGAAAAATACACAATACACCATTATAATGCTACTCCGCCCAGGGGCCCGAGTGGCCCCATCACCCTGCGTCCCCCTCACTGCCCCAAGCCGCCAGCAGGTGCTGGGGGTTCCCCCAACATGCCAGCCCAGGCCACCATCCCCCACCCACGCAAGTCGGGCAGACCCAGCCCAGGATGAACGAGCCCCAGGGAGAAGCTGGACCCACCTGTTGGGAGACACCCTGGGGCTCCCGGCCAGCCCGGAACAGGGAAGCGAGCTCCCTGCCCAGCGCAGGGCCCCTGCCCGGGCCTTCCTAGAGGAGCAGGGCGCTTTTAAGTAGGGAGGCAGCCCTCCCCGACCCCTGACATTTATAAAGACAAATTTACGGAGCAAATGTTGAGAGTGCAGGGAACCTGGGCACCCGATCATTGGGCCAAATCGGCCACAAGCCTCCCCCGAGGGGCGCTGAGAGGGTCTCTGCTGCAGTCACCCGGCTTCCCCTGGCATCGAACATCCATCCCCTGGCCGCGGCTGCCCCCTTCCTCGGCGGCTGGGTGTTCCCTATGCCCCCAGCCGGCGAGGATGCATGGGGGACAGTGCTGGGCTCCGAGACCTTCGTTTCTATCCTGGCCACTCACTCGCTGTGTGACCTCAGGAGGGGTGCTACCTCTCTGTGCCTCAGCTCCCTCCTCGGGGTGGCTCGGGGCTGGGTTTCTAAGGTGCCCTCAGCCCTCCCGCGCCGGCCGCAGAGTCAGTCCCGGTGCCCCCGACCGGCGCTGCCCACCCGGGTCTCACACCGGCGCGCCCGGCCCCCGCCTCCGCGCACCCCTCCTCACCTGGGCTTGGAGGCAGAGGACCAGCAAGTGCAACAGCCTGTGGGAGACAAAAGCGGGCGGGAGAGAGAGGCGCGGGTGAGGCGAGGGGCGCGGGGGGCGGGTGGCGGGGCAGGGCGGCGCGGTACTCACAGGCAGCTCAGCGCGGAGCGGGGGCTGCCCATGGCGCGCGGCCCCGGGGCACCGAGAGCCCGGCGGGTCACGCCGTCCCGCGGGCCGCCGCGGGAGGACGCGCTGAGCAGGGCGCGAGCGGAGAGGGTGCGGGTGCGGGAGGCCGGCGGCGATCACGACGCGGCTCCGCGGGTCCCGTGGAACGTCGTGCTCGCCGCGCCGCACCGAATCGCTGTGCGCCGCTGCCGGAGCCGGTGGCCGCTGGCTGCTCGGGAGCCGGAGCGGGCGGGAGGGTCACGGGCTGGCGGGGTGGGTGGGGAGGTGGGAGGGCGGGGAGGGGTGGGGGCGGGGGGCGCCGCACCGGGCGCGAGGGGGGAGCGCGGGGCGGGCGGCGGGAGCCCGCAGCCCCCGGCTGGGAACTGGGGCCTGGATGCAGCCCGGGGCGGGGGCGGGGCGGCCGGGGAGGGGCGGCCGACGGGTTCGGGATTGAGGGTCTGGGCTAGGGGAGGGGTCTGGGGACCCGCGGGAGGGGCGGGGGCGGCCGGTCTGGGCGCCTCCCCCTATCCCCGGCCTGTCCCCTCGCGCGCTCCCCGGTCCCGGACGCGCGGGGATGGGGGCGCCTAGGGCTGCAAACTCTGCGGGCCGGGAGACCCCGAGCCTGGGCTTCCCCGACCGCCTGGAGCGCCCGAGTCTGGCGGGTCTGGGTCTCCGCCTCCGGGCCCAGCCGCTTCCGCCGCCGGCTACGCAGTGGTCTCCGAGCCACCTACTGTGTGTCCCGCCGGGCCCCTGGGAGCGGCCGCTAACCATGCAGCGAATGGCTGCGCACCCGGCCCTCGCGCAGTGCGTGCCGGTGCCACCCGGACCCCGCTCCCCTGTTTCGGCCGCGTGCCCCGTCCTGTCGGTCTCTCCAGTCTCCTTCACTCTCCCGAGGAGGCCCTGGGAGCCAGAAATGCCTCCCCCTCCCCCCATCC
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Subsets and Splits
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